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Items: 1 to 20 of 1283

1.

rs1490858558 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    7:50592419 (GRCh38)
    7:50660116 (GRCh37)
    Canonical SPDI:
    NC_000007.14:50592418:C:T
    Gene:
    GRB10 (Varview)
    Functional Consequence:
    3_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000007/1 (GnomAD)
    T=0.000008/2 (TOPMED)
    T=0.000035/1 (TOMMO)
    C=0.5/1 (SGDP_PRJ)
    HGVS:
    NC_000007.14:g.50592419C>T, NC_000007.13:g.50660116C>T, NG_012305.2:g.206044G>A, NM_001350816.3:c.*533G>A, NM_001350816.2:c.*533G>A, NM_001350816.1:c.*533G>A, NM_001001555.3:c.*533G>A, NM_001001555.2:c.*533G>A, NM_001001550.3:c.*533G>A, NM_001001550.2:c.*533G>A, NM_001001549.3:c.*533G>A, NM_001001549.2:c.*533G>A, NM_001350814.2:c.*533G>A, NM_001350814.1:c.*533G>A, NM_001350815.2:c.*533G>A, NM_001350815.1:c.*533G>A, NM_001371009.1:c.*533G>A, NM_001371008.1:c.*533G>A, NM_005311.4:c.*533G>A, XM_017012029.3:c.*533G>A, XM_017012029.2:c.*533G>A, XM_017012029.1:c.*533G>A, XM_017012030.3:c.*533G>A, XM_017012030.2:c.*533G>A, XM_017012030.1:c.*533G>A, XM_017012031.3:c.*533G>A, XM_017012031.2:c.*533G>A, XM_017012031.1:c.*533G>A, XM_017012061.3:c.*533G>A, XM_017012061.2:c.*533G>A, XM_017012061.1:c.*533G>A, XM_017012062.3:c.*533G>A, XM_017012062.2:c.*533G>A, XM_017012062.1:c.*533G>A, XM_024446726.2:c.*533G>A, XM_024446726.1:c.*533G>A, XM_017012034.2:c.*533G>A, XM_017012034.1:c.*533G>A, XM_024446729.2:c.*533G>A, XM_024446729.1:c.*533G>A, XM_047420254.1:c.*533G>A, XM_047420242.1:c.*533G>A, XM_047420255.1:c.*533G>A, XM_047420253.1:c.*533G>A, XM_047420251.1:c.*533G>A, XM_047420245.1:c.*533G>A, XM_047420234.1:c.*533G>A, XM_047420246.1:c.*533G>A, XM_047420240.1:c.*533G>A, XM_047420247.1:c.*533G>A, XM_047420235.1:c.*533G>A, XM_047420236.1:c.*533G>A, XM_047420244.1:c.*533G>A, XM_047420248.1:c.*533G>A, XM_047420233.1:c.*533G>A, XM_047420249.1:c.*533G>A, XM_017012058.1:c.*533G>A, XM_047420243.1:c.*533G>A, XM_047420238.1:c.*533G>A, XM_047420237.1:c.*533G>A, XM_047420241.1:c.*533G>A, XM_047420232.1:c.*533G>A, XM_047420252.1:c.*533G>A, XM_047420250.1:c.*533G>A, XM_017012045.1:c.*533G>A, XM_047420256.1:c.*533G>A

    2.

    rs1490101153 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      7:50591128 (GRCh38)
      7:50658825 (GRCh37)
      Canonical SPDI:
      NC_000007.14:50591127:T:C
      Gene:
      GRB10 (Varview)
      Functional Consequence:
      3_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (TOPMED)
      C=0.000007/1 (GnomAD)
      HGVS:
      NC_000007.14:g.50591128T>C, NC_000007.13:g.50658825T>C, NG_012305.2:g.207335A>G, NM_001350816.3:c.*1824A>G, NM_001350816.2:c.*1824A>G, NM_001350816.1:c.*1824A>G, NM_001001555.3:c.*1824A>G, NM_001001555.2:c.*1824A>G, NM_001001550.3:c.*1824A>G, NM_001001550.2:c.*1824A>G, NM_001001549.3:c.*1824A>G, NM_001001549.2:c.*1824A>G, NM_001350814.2:c.*1824A>G, NM_001350814.1:c.*1824A>G, NM_001350815.2:c.*1824A>G, NM_001350815.1:c.*1824A>G, NM_001371009.1:c.*1824A>G, NM_001371008.1:c.*1824A>G, NM_005311.4:c.*1824A>G, XM_017012029.3:c.*1824A>G, XM_017012029.2:c.*1824A>G, XM_017012029.1:c.*1824A>G, XM_017012030.3:c.*1824A>G, XM_017012030.2:c.*1824A>G, XM_017012030.1:c.*1824A>G, XM_017012031.3:c.*1824A>G, XM_017012031.2:c.*1824A>G, XM_017012031.1:c.*1824A>G, XM_017012061.3:c.*1824A>G, XM_017012061.2:c.*1824A>G, XM_017012061.1:c.*1824A>G, XM_017012062.3:c.*1824A>G, XM_017012062.2:c.*1824A>G, XM_017012062.1:c.*1824A>G, XM_024446726.2:c.*1824A>G, XM_024446726.1:c.*1824A>G, XM_017012034.2:c.*1824A>G, XM_017012034.1:c.*1824A>G, XM_024446729.2:c.*1824A>G, XM_024446729.1:c.*1824A>G, XM_047420254.1:c.*1824A>G, XM_047420242.1:c.*1824A>G, XM_047420255.1:c.*1824A>G, XM_047420253.1:c.*1824A>G, XM_047420251.1:c.*1824A>G, XM_047420245.1:c.*1824A>G, XM_047420234.1:c.*1824A>G, XM_047420246.1:c.*1824A>G, XM_047420240.1:c.*1824A>G, XM_047420247.1:c.*1824A>G, XM_047420235.1:c.*1824A>G, XM_047420236.1:c.*1824A>G, XM_047420244.1:c.*1824A>G, XM_047420248.1:c.*1824A>G, XM_047420233.1:c.*1824A>G, XM_047420249.1:c.*1824A>G, XM_017012058.1:c.*1824A>G, XM_047420243.1:c.*1824A>G, XM_047420238.1:c.*1824A>G, XM_047420237.1:c.*1824A>G, XM_047420241.1:c.*1824A>G, XM_047420232.1:c.*1824A>G, XM_047420252.1:c.*1824A>G, XM_047420250.1:c.*1824A>G, XM_017012045.1:c.*1824A>G, XM_047420256.1:c.*1824A>G

      3.

      rs1488072591 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A,T [Show Flanks]
        Chromosome:
        7:50605405 (GRCh38)
        7:50673102 (GRCh37)
        Canonical SPDI:
        NC_000007.14:50605404:C:A,NC_000007.14:50605404:C:T
        Gene:
        GRB10 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (GnomAD_exomes)
        A=0.000007/1 (GnomAD)
        HGVS:
        NC_000007.14:g.50605405C>A, NC_000007.14:g.50605405C>T, NC_000007.13:g.50673102C>A, NC_000007.13:g.50673102C>T, NG_012305.2:g.193058G>T, NG_012305.2:g.193058G>A, NM_001350816.3:c.1100G>T, NM_001350816.3:c.1100G>A, NM_001350816.2:c.1256G>T, NM_001350816.2:c.1256G>A, NM_001350816.1:c.1256G>T, NM_001350816.1:c.1256G>A, NM_001001555.3:c.1100G>T, NM_001001555.3:c.1100G>A, NM_001001555.2:c.1100G>T, NM_001001555.2:c.1100G>A, NM_001001550.3:c.1100G>T, NM_001001550.3:c.1100G>A, NM_001001550.2:c.1100G>T, NM_001001550.2:c.1100G>A, NM_001001549.3:c.1136G>T, NM_001001549.3:c.1136G>A, NM_001001549.2:c.1136G>T, NM_001001549.2:c.1136G>A, NM_001350814.2:c.1274G>T, NM_001350814.2:c.1274G>A, NM_001350814.1:c.1274G>T, NM_001350814.1:c.1274G>A, NM_001350815.2:c.1388G>T, NM_001350815.2:c.1388G>A, NM_001350815.1:c.1388G>T, NM_001350815.1:c.1388G>A, NM_001371009.1:c.1421G>T, NM_001371009.1:c.1421G>A, NM_001371008.1:c.1100G>T, NM_001371008.1:c.1100G>A, NM_005311.4:c.1274G>T, NM_005311.4:c.1274G>A, XM_017012029.3:c.1622G>T, XM_017012029.3:c.1622G>A, XM_017012029.2:c.1622G>T, XM_017012029.2:c.1622G>A, XM_017012029.1:c.1622G>T, XM_017012029.1:c.1622G>A, XM_017012030.3:c.1556G>T, XM_017012030.3:c.1556G>A, XM_017012030.2:c.1556G>T, XM_017012030.2:c.1556G>A, XM_017012030.1:c.1556G>T, XM_017012030.1:c.1556G>A, XM_017012031.3:c.1487G>T, XM_017012031.3:c.1487G>A, XM_017012031.2:c.1487G>T, XM_017012031.2:c.1487G>A, XM_017012031.1:c.1487G>T, XM_017012031.1:c.1487G>A, XM_017012061.3:c.1235G>T, XM_017012061.3:c.1235G>A, XM_017012061.2:c.1235G>T, XM_017012061.2:c.1235G>A, XM_017012061.1:c.1235G>T, XM_017012061.1:c.1235G>A, XM_017012062.3:c.1235G>T, XM_017012062.3:c.1235G>A, XM_017012062.2:c.1235G>T, XM_017012062.2:c.1235G>A, XM_017012062.1:c.1235G>T, XM_017012062.1:c.1235G>A, XM_024446726.2:c.1523G>T, XM_024446726.2:c.1523G>A, XM_024446726.1:c.1523G>T, XM_024446726.1:c.1523G>A, XM_017012034.2:c.1409G>T, XM_017012034.2:c.1409G>A, XM_017012034.1:c.1409G>T, XM_017012034.1:c.1409G>A, XM_024446729.2:c.1235G>T, XM_024446729.2:c.1235G>A, XM_024446729.1:c.1235G>T, XM_024446729.1:c.1235G>A, XM_047420254.1:c.1100G>T, XM_047420254.1:c.1100G>A, XM_047420242.1:c.1271G>T, XM_047420242.1:c.1271G>A, XM_047420255.1:c.1100G>T, XM_047420255.1:c.1100G>A, XM_047420253.1:c.1100G>T, XM_047420253.1:c.1100G>A, XM_047420251.1:c.1235G>T, XM_047420251.1:c.1235G>A, XM_047420245.1:c.1235G>T, XM_047420245.1:c.1235G>A, XM_047420234.1:c.1391G>T, XM_047420234.1:c.1391G>A, XM_047420246.1:c.1235G>T, XM_047420246.1:c.1235G>A, XM_047420240.1:c.1391G>T, XM_047420240.1:c.1391G>A, XM_047420247.1:c.1235G>T, XM_047420247.1:c.1235G>A, XM_047420235.1:c.1391G>T, XM_047420235.1:c.1391G>A, XM_047420236.1:c.1391G>T, XM_047420236.1:c.1391G>A, XM_047420244.1:c.1256G>T, XM_047420244.1:c.1256G>A, XM_047420248.1:c.1235G>T, XM_047420248.1:c.1235G>A, XM_047420233.1:c.1391G>T, XM_047420233.1:c.1391G>A, XM_047420249.1:c.1235G>T, XM_047420249.1:c.1235G>A, XM_017012058.1:c.1235G>T, XM_017012058.1:c.1235G>A, XM_047420243.1:c.1256G>T, XM_047420243.1:c.1256G>A, XM_047420238.1:c.1391G>T, XM_047420238.1:c.1391G>A, XM_047420237.1:c.1391G>T, XM_047420237.1:c.1391G>A, XM_047420241.1:c.1274G>T, XM_047420241.1:c.1274G>A, XM_047420232.1:c.1409G>T, XM_047420232.1:c.1409G>A, XM_047420252.1:c.1100G>T, XM_047420252.1:c.1100G>A, XM_047420250.1:c.1235G>T, XM_047420250.1:c.1235G>A, XM_017012045.1:c.1100G>T, XM_017012045.1:c.1100G>A, XM_047420256.1:c.713G>T, XM_047420256.1:c.713G>A, NP_001337745.2:p.Arg367Leu, NP_001337745.2:p.Arg367His, NP_001001555.1:p.Arg367Leu, NP_001001555.1:p.Arg367His, NP_001001550.1:p.Arg367Leu, NP_001001550.1:p.Arg367His, NP_001001549.1:p.Arg379Leu, NP_001001549.1:p.Arg379His, NP_001337743.1:p.Arg425Leu, NP_001337743.1:p.Arg425His, NP_001337744.1:p.Arg463Leu, NP_001337744.1:p.Arg463His, NP_001357938.1:p.Arg474Leu, NP_001357938.1:p.Arg474His, NP_001357937.1:p.Arg367Leu, NP_001357937.1:p.Arg367His, XP_016867518.1:p.Arg541Leu, XP_016867518.1:p.Arg541His, XP_016867519.1:p.Arg519Leu, XP_016867519.1:p.Arg519His, XP_016867520.1:p.Arg496Leu, XP_016867520.1:p.Arg496His, XP_016867550.1:p.Arg412Leu, XP_016867550.1:p.Arg412His, XP_016867551.1:p.Arg412Leu, XP_016867551.1:p.Arg412His, XP_024302494.1:p.Arg508Leu, XP_024302494.1:p.Arg508His, XP_016867523.1:p.Arg470Leu, XP_016867523.1:p.Arg470His, XP_024302497.1:p.Arg412Leu, XP_024302497.1:p.Arg412His, XP_047276210.1:p.Arg367Leu, XP_047276210.1:p.Arg367His, XP_047276198.1:p.Arg424Leu, XP_047276198.1:p.Arg424His, XP_047276211.1:p.Arg367Leu, XP_047276211.1:p.Arg367His, XP_047276209.1:p.Arg367Leu, XP_047276209.1:p.Arg367His, XP_047276207.1:p.Arg412Leu, XP_047276207.1:p.Arg412His, XP_047276201.1:p.Arg412Leu, XP_047276201.1:p.Arg412His, XP_047276190.1:p.Arg464Leu, XP_047276190.1:p.Arg464His, XP_047276202.1:p.Arg412Leu, XP_047276202.1:p.Arg412His, XP_047276196.1:p.Arg464Leu, XP_047276196.1:p.Arg464His, XP_047276203.1:p.Arg412Leu, XP_047276203.1:p.Arg412His, XP_047276191.1:p.Arg464Leu, XP_047276191.1:p.Arg464His, XP_047276192.1:p.Arg464Leu, XP_047276192.1:p.Arg464His, XP_047276200.1:p.Arg419Leu, XP_047276200.1:p.Arg419His, XP_047276204.1:p.Arg412Leu, XP_047276204.1:p.Arg412His, XP_047276189.1:p.Arg464Leu, XP_047276189.1:p.Arg464His, XP_047276205.1:p.Arg412Leu, XP_047276205.1:p.Arg412His, XP_016867547.1:p.Arg412Leu, XP_016867547.1:p.Arg412His, XP_047276199.1:p.Arg419Leu, XP_047276199.1:p.Arg419His, XP_047276194.1:p.Arg464Leu, XP_047276194.1:p.Arg464His, XP_047276193.1:p.Arg464Leu, XP_047276193.1:p.Arg464His, XP_047276197.1:p.Arg425Leu, XP_047276197.1:p.Arg425His, XP_047276188.1:p.Arg470Leu, XP_047276188.1:p.Arg470His, XP_047276208.1:p.Arg367Leu, XP_047276208.1:p.Arg367His, XP_047276206.1:p.Arg412Leu, XP_047276206.1:p.Arg412His, XP_016867534.1:p.Arg367Leu, XP_016867534.1:p.Arg367His, XP_047276212.1:p.Arg238Leu, XP_047276212.1:p.Arg238His

        4.

        rs1486136571 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>G [Show Flanks]
          Chromosome:
          7:50606368 (GRCh38)
          7:50674065 (GRCh37)
          Canonical SPDI:
          NC_000007.14:50606367:T:G
          Gene:
          GRB10 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          G=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000007.14:g.50606368T>G, NC_000007.13:g.50674065T>G, NG_012305.2:g.192095A>C, NM_001350816.3:c.1067A>C, NM_001350816.2:c.1223A>C, NM_001350816.1:c.1223A>C, NM_001001555.3:c.1067A>C, NM_001001555.2:c.1067A>C, NM_001001550.3:c.1067A>C, NM_001001550.2:c.1067A>C, NM_001001549.3:c.1103A>C, NM_001001549.2:c.1103A>C, NM_001350814.2:c.1241A>C, NM_001350814.1:c.1241A>C, NM_001350815.2:c.1355A>C, NM_001350815.1:c.1355A>C, NM_001371009.1:c.1388A>C, NM_001371008.1:c.1067A>C, NM_005311.4:c.1241A>C, XM_017012029.3:c.1589A>C, XM_017012029.2:c.1589A>C, XM_017012029.1:c.1589A>C, XM_017012030.3:c.1523A>C, XM_017012030.2:c.1523A>C, XM_017012030.1:c.1523A>C, XM_017012031.3:c.1454A>C, XM_017012031.2:c.1454A>C, XM_017012031.1:c.1454A>C, XM_017012061.3:c.1202A>C, XM_017012061.2:c.1202A>C, XM_017012061.1:c.1202A>C, XM_017012062.3:c.1202A>C, XM_017012062.2:c.1202A>C, XM_017012062.1:c.1202A>C, XM_024446726.2:c.1490A>C, XM_024446726.1:c.1490A>C, XM_017012034.2:c.1376A>C, XM_017012034.1:c.1376A>C, XM_024446729.2:c.1202A>C, XM_024446729.1:c.1202A>C, XM_047420254.1:c.1067A>C, XM_047420242.1:c.1238A>C, XM_047420255.1:c.1067A>C, XM_047420253.1:c.1067A>C, XM_047420251.1:c.1202A>C, XM_047420245.1:c.1202A>C, XM_047420234.1:c.1358A>C, XM_047420246.1:c.1202A>C, XM_047420240.1:c.1358A>C, XM_047420247.1:c.1202A>C, XM_047420235.1:c.1358A>C, XM_047420236.1:c.1358A>C, XM_047420244.1:c.1223A>C, XM_047420248.1:c.1202A>C, XM_047420233.1:c.1358A>C, XM_047420249.1:c.1202A>C, XM_017012058.1:c.1202A>C, XM_047420243.1:c.1223A>C, XM_047420238.1:c.1358A>C, XM_047420237.1:c.1358A>C, XM_047420241.1:c.1241A>C, XM_047420232.1:c.1376A>C, XM_047420252.1:c.1067A>C, XM_047420250.1:c.1202A>C, XM_017012045.1:c.1067A>C, XM_047420256.1:c.680A>C, NP_001337745.2:p.Lys356Thr, NP_001001555.1:p.Lys356Thr, NP_001001550.1:p.Lys356Thr, NP_001001549.1:p.Lys368Thr, NP_001337743.1:p.Lys414Thr, NP_001337744.1:p.Lys452Thr, NP_001357938.1:p.Lys463Thr, NP_001357937.1:p.Lys356Thr, XP_016867518.1:p.Lys530Thr, XP_016867519.1:p.Lys508Thr, XP_016867520.1:p.Lys485Thr, XP_016867550.1:p.Lys401Thr, XP_016867551.1:p.Lys401Thr, XP_024302494.1:p.Lys497Thr, XP_016867523.1:p.Lys459Thr, XP_024302497.1:p.Lys401Thr, XP_047276210.1:p.Lys356Thr, XP_047276198.1:p.Lys413Thr, XP_047276211.1:p.Lys356Thr, XP_047276209.1:p.Lys356Thr, XP_047276207.1:p.Lys401Thr, XP_047276201.1:p.Lys401Thr, XP_047276190.1:p.Lys453Thr, XP_047276202.1:p.Lys401Thr, XP_047276196.1:p.Lys453Thr, XP_047276203.1:p.Lys401Thr, XP_047276191.1:p.Lys453Thr, XP_047276192.1:p.Lys453Thr, XP_047276200.1:p.Lys408Thr, XP_047276204.1:p.Lys401Thr, XP_047276189.1:p.Lys453Thr, XP_047276205.1:p.Lys401Thr, XP_016867547.1:p.Lys401Thr, XP_047276199.1:p.Lys408Thr, XP_047276194.1:p.Lys453Thr, XP_047276193.1:p.Lys453Thr, XP_047276197.1:p.Lys414Thr, XP_047276188.1:p.Lys459Thr, XP_047276208.1:p.Lys356Thr, XP_047276206.1:p.Lys401Thr, XP_016867534.1:p.Lys356Thr, XP_047276212.1:p.Lys227Thr

          5.

          rs1485910038 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            7:50591205 (GRCh38)
            7:50658902 (GRCh37)
            Canonical SPDI:
            NC_000007.14:50591204:T:C
            Gene:
            GRB10 (Varview)
            Functional Consequence:
            3_prime_UTR_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            C=0.000007/1 (GnomAD)
            HGVS:
            NC_000007.14:g.50591205T>C, NC_000007.13:g.50658902T>C, NG_012305.2:g.207258A>G, NM_001350816.3:c.*1747A>G, NM_001350816.2:c.*1747A>G, NM_001350816.1:c.*1747A>G, NM_001001555.3:c.*1747A>G, NM_001001555.2:c.*1747A>G, NM_001001550.3:c.*1747A>G, NM_001001550.2:c.*1747A>G, NM_001001549.3:c.*1747A>G, NM_001001549.2:c.*1747A>G, NM_001350814.2:c.*1747A>G, NM_001350814.1:c.*1747A>G, NM_001350815.2:c.*1747A>G, NM_001350815.1:c.*1747A>G, NM_001371009.1:c.*1747A>G, NM_001371008.1:c.*1747A>G, NM_005311.4:c.*1747A>G, XM_017012029.3:c.*1747A>G, XM_017012029.2:c.*1747A>G, XM_017012029.1:c.*1747A>G, XM_017012030.3:c.*1747A>G, XM_017012030.2:c.*1747A>G, XM_017012030.1:c.*1747A>G, XM_017012031.3:c.*1747A>G, XM_017012031.2:c.*1747A>G, XM_017012031.1:c.*1747A>G, XM_017012061.3:c.*1747A>G, XM_017012061.2:c.*1747A>G, XM_017012061.1:c.*1747A>G, XM_017012062.3:c.*1747A>G, XM_017012062.2:c.*1747A>G, XM_017012062.1:c.*1747A>G, XM_024446726.2:c.*1747A>G, XM_024446726.1:c.*1747A>G, XM_017012034.2:c.*1747A>G, XM_017012034.1:c.*1747A>G, XM_024446729.2:c.*1747A>G, XM_024446729.1:c.*1747A>G, XM_047420254.1:c.*1747A>G, XM_047420242.1:c.*1747A>G, XM_047420255.1:c.*1747A>G, XM_047420253.1:c.*1747A>G, XM_047420251.1:c.*1747A>G, XM_047420245.1:c.*1747A>G, XM_047420234.1:c.*1747A>G, XM_047420246.1:c.*1747A>G, XM_047420240.1:c.*1747A>G, XM_047420247.1:c.*1747A>G, XM_047420235.1:c.*1747A>G, XM_047420236.1:c.*1747A>G, XM_047420244.1:c.*1747A>G, XM_047420248.1:c.*1747A>G, XM_047420233.1:c.*1747A>G, XM_047420249.1:c.*1747A>G, XM_017012058.1:c.*1747A>G, XM_047420243.1:c.*1747A>G, XM_047420238.1:c.*1747A>G, XM_047420237.1:c.*1747A>G, XM_047420241.1:c.*1747A>G, XM_047420232.1:c.*1747A>G, XM_047420252.1:c.*1747A>G, XM_047420250.1:c.*1747A>G, XM_017012045.1:c.*1747A>G, XM_047420256.1:c.*1747A>G

            6.

            rs1484102168 [Homo sapiens]
              Variant type:
              SNV:
              Alleles:
              ->AG
              Chromosome:
              no mapping
              Canonical SPDI:

              7.

              rs1483299552 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                7:50661926 (GRCh38)
                7:50729623 (GRCh37)
                Canonical SPDI:
                NC_000007.14:50661925:C:T
                Gene:
                GRB10 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                T=0.000007/1 (GnomAD)
                HGVS:
                NC_000007.14:g.50661926C>T, NC_000007.13:g.50729623C>T, NG_012305.2:g.136537G>A, XM_017012029.3:c.739G>A, XM_017012029.2:c.739G>A, XM_017012029.1:c.739G>A, XM_017012030.3:c.673G>A, XM_017012030.2:c.673G>A, XM_017012030.1:c.673G>A, XM_017012061.3:c.352G>A, XM_017012061.2:c.352G>A, XM_017012061.1:c.352G>A, XM_017012062.3:c.352G>A, XM_017012062.2:c.352G>A, XM_017012062.1:c.352G>A, XM_024446726.2:c.640G>A, XM_024446726.1:c.640G>A, XM_017012034.2:c.526G>A, XM_017012034.1:c.526G>A, XM_024446729.2:c.352G>A, XM_024446729.1:c.352G>A, XM_047420251.1:c.352G>A, XM_047420245.1:c.352G>A, XM_047420234.1:c.508G>A, XM_047420246.1:c.352G>A, XM_047420240.1:c.508G>A, XM_047420247.1:c.352G>A, XM_047420235.1:c.508G>A, XM_047420236.1:c.508G>A, XM_047420248.1:c.352G>A, XM_047420233.1:c.508G>A, XM_047420249.1:c.352G>A, XM_017012058.1:c.352G>A, XM_047420238.1:c.508G>A, XM_047420237.1:c.508G>A, XM_047420232.1:c.526G>A, XM_047420250.1:c.352G>A, XP_016867518.1:p.Asp247Asn, XP_016867519.1:p.Asp225Asn, XP_016867550.1:p.Asp118Asn, XP_016867551.1:p.Asp118Asn, XP_024302494.1:p.Asp214Asn, XP_016867523.1:p.Asp176Asn, XP_024302497.1:p.Asp118Asn, XP_047276207.1:p.Asp118Asn, XP_047276201.1:p.Asp118Asn, XP_047276190.1:p.Asp170Asn, XP_047276202.1:p.Asp118Asn, XP_047276196.1:p.Asp170Asn, XP_047276203.1:p.Asp118Asn, XP_047276191.1:p.Asp170Asn, XP_047276192.1:p.Asp170Asn, XP_047276204.1:p.Asp118Asn, XP_047276189.1:p.Asp170Asn, XP_047276205.1:p.Asp118Asn, XP_016867547.1:p.Asp118Asn, XP_047276194.1:p.Asp170Asn, XP_047276193.1:p.Asp170Asn, XP_047276188.1:p.Asp176Asn, XP_047276206.1:p.Asp118Asn

                8.

                rs1483148511 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  7:50605318 (GRCh38)
                  7:50673015 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:50605317:G:A
                  Gene:
                  GRB10 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  A=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000007.14:g.50605318G>A, NC_000007.13:g.50673015G>A, NG_012305.2:g.193145C>T, NM_001350816.3:c.1187C>T, NM_001350816.2:c.1343C>T, NM_001350816.1:c.1343C>T, NM_001001555.3:c.1187C>T, NM_001001555.2:c.1187C>T, NM_001001550.3:c.1187C>T, NM_001001550.2:c.1187C>T, NM_001001549.3:c.1223C>T, NM_001001549.2:c.1223C>T, NM_001350814.2:c.1361C>T, NM_001350814.1:c.1361C>T, NM_001350815.2:c.1475C>T, NM_001350815.1:c.1475C>T, NM_001371009.1:c.1508C>T, NM_001371008.1:c.1187C>T, NM_005311.4:c.1361C>T, XM_017012029.3:c.1709C>T, XM_017012029.2:c.1709C>T, XM_017012029.1:c.1709C>T, XM_017012030.3:c.1643C>T, XM_017012030.2:c.1643C>T, XM_017012030.1:c.1643C>T, XM_017012031.3:c.1574C>T, XM_017012031.2:c.1574C>T, XM_017012031.1:c.1574C>T, XM_017012061.3:c.1322C>T, XM_017012061.2:c.1322C>T, XM_017012061.1:c.1322C>T, XM_017012062.3:c.1322C>T, XM_017012062.2:c.1322C>T, XM_017012062.1:c.1322C>T, XM_024446726.2:c.1610C>T, XM_024446726.1:c.1610C>T, XM_017012034.2:c.1496C>T, XM_017012034.1:c.1496C>T, XM_024446729.2:c.1322C>T, XM_024446729.1:c.1322C>T, XM_047420254.1:c.1187C>T, XM_047420242.1:c.1358C>T, XM_047420255.1:c.1187C>T, XM_047420253.1:c.1187C>T, XM_047420251.1:c.1322C>T, XM_047420245.1:c.1322C>T, XM_047420234.1:c.1478C>T, XM_047420246.1:c.1322C>T, XM_047420240.1:c.1478C>T, XM_047420247.1:c.1322C>T, XM_047420235.1:c.1478C>T, XM_047420236.1:c.1478C>T, XM_047420244.1:c.1343C>T, XM_047420248.1:c.1322C>T, XM_047420233.1:c.1478C>T, XM_047420249.1:c.1322C>T, XM_017012058.1:c.1322C>T, XM_047420243.1:c.1343C>T, XM_047420238.1:c.1478C>T, XM_047420237.1:c.1478C>T, XM_047420241.1:c.1361C>T, XM_047420232.1:c.1496C>T, XM_047420252.1:c.1187C>T, XM_047420250.1:c.1322C>T, XM_017012045.1:c.1187C>T, XM_047420256.1:c.800C>T, NP_001337745.2:p.Ala396Val, NP_001001555.1:p.Ala396Val, NP_001001550.1:p.Ala396Val, NP_001001549.1:p.Ala408Val, NP_001337743.1:p.Ala454Val, NP_001337744.1:p.Ala492Val, NP_001357938.1:p.Ala503Val, NP_001357937.1:p.Ala396Val, XP_016867518.1:p.Ala570Val, XP_016867519.1:p.Ala548Val, XP_016867520.1:p.Ala525Val, XP_016867550.1:p.Ala441Val, XP_016867551.1:p.Ala441Val, XP_024302494.1:p.Ala537Val, XP_016867523.1:p.Ala499Val, XP_024302497.1:p.Ala441Val, XP_047276210.1:p.Ala396Val, XP_047276198.1:p.Ala453Val, XP_047276211.1:p.Ala396Val, XP_047276209.1:p.Ala396Val, XP_047276207.1:p.Ala441Val, XP_047276201.1:p.Ala441Val, XP_047276190.1:p.Ala493Val, XP_047276202.1:p.Ala441Val, XP_047276196.1:p.Ala493Val, XP_047276203.1:p.Ala441Val, XP_047276191.1:p.Ala493Val, XP_047276192.1:p.Ala493Val, XP_047276200.1:p.Ala448Val, XP_047276204.1:p.Ala441Val, XP_047276189.1:p.Ala493Val, XP_047276205.1:p.Ala441Val, XP_016867547.1:p.Ala441Val, XP_047276199.1:p.Ala448Val, XP_047276194.1:p.Ala493Val, XP_047276193.1:p.Ala493Val, XP_047276197.1:p.Ala454Val, XP_047276188.1:p.Ala499Val, XP_047276208.1:p.Ala396Val, XP_047276206.1:p.Ala441Val, XP_016867534.1:p.Ala396Val, XP_047276212.1:p.Ala267Val

                  9.

                  rs1483123067 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G,T [Show Flanks]
                    Chromosome:
                    7:50590797 (GRCh38)
                    7:50658494 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:50590796:C:G,NC_000007.14:50590796:C:T
                    Gene:
                    GRB10 (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000007.14:g.50590797C>G, NC_000007.14:g.50590797C>T, NC_000007.13:g.50658494C>G, NC_000007.13:g.50658494C>T, NG_012305.2:g.207666G>C, NG_012305.2:g.207666G>A, NM_001350816.3:c.*2155G>C, NM_001350816.3:c.*2155G>A, NM_001350816.2:c.*2155G>C, NM_001350816.2:c.*2155G>A, NM_001350816.1:c.*2155G>C, NM_001350816.1:c.*2155G>A, NM_001001555.3:c.*2155G>C, NM_001001555.3:c.*2155G>A, NM_001001555.2:c.*2155G>C, NM_001001555.2:c.*2155G>A, NM_001001550.3:c.*2155G>C, NM_001001550.3:c.*2155G>A, NM_001001550.2:c.*2155G>C, NM_001001550.2:c.*2155G>A, NM_001001549.3:c.*2155G>C, NM_001001549.3:c.*2155G>A, NM_001001549.2:c.*2155G>C, NM_001001549.2:c.*2155G>A, NM_001350814.2:c.*2155G>C, NM_001350814.2:c.*2155G>A, NM_001350814.1:c.*2155G>C, NM_001350814.1:c.*2155G>A, NM_001350815.2:c.*2155G>C, NM_001350815.2:c.*2155G>A, NM_001350815.1:c.*2155G>C, NM_001350815.1:c.*2155G>A, NM_001371009.1:c.*2155G>C, NM_001371009.1:c.*2155G>A, NM_001371008.1:c.*2155G>C, NM_001371008.1:c.*2155G>A, NM_005311.4:c.*2155G>C, NM_005311.4:c.*2155G>A, XM_017012029.3:c.*2155G>C, XM_017012029.3:c.*2155G>A, XM_017012029.2:c.*2155G>C, XM_017012029.2:c.*2155G>A, XM_017012029.1:c.*2155G>C, XM_017012029.1:c.*2155G>A, XM_017012030.3:c.*2155G>C, XM_017012030.3:c.*2155G>A, XM_017012030.2:c.*2155G>C, XM_017012030.2:c.*2155G>A, XM_017012030.1:c.*2155G>C, XM_017012030.1:c.*2155G>A, XM_017012031.3:c.*2155G>C, XM_017012031.3:c.*2155G>A, XM_017012031.2:c.*2155G>C, XM_017012031.2:c.*2155G>A, XM_017012031.1:c.*2155G>C, XM_017012031.1:c.*2155G>A, XM_017012061.3:c.*2155G>C, XM_017012061.3:c.*2155G>A, XM_017012061.2:c.*2155G>C, XM_017012061.2:c.*2155G>A, XM_017012061.1:c.*2155G>C, XM_017012061.1:c.*2155G>A, XM_017012062.3:c.*2155G>C, XM_017012062.3:c.*2155G>A, XM_017012062.2:c.*2155G>C, XM_017012062.2:c.*2155G>A, XM_017012062.1:c.*2155G>C, XM_017012062.1:c.*2155G>A, XM_024446726.2:c.*2155G>C, XM_024446726.2:c.*2155G>A, XM_024446726.1:c.*2155G>C, XM_024446726.1:c.*2155G>A, XM_017012034.2:c.*2155G>C, XM_017012034.2:c.*2155G>A, XM_017012034.1:c.*2155G>C, XM_017012034.1:c.*2155G>A, XM_024446729.2:c.*2155G>C, XM_024446729.2:c.*2155G>A, XM_024446729.1:c.*2155G>C, XM_024446729.1:c.*2155G>A, XM_047420254.1:c.*2155G>C, XM_047420254.1:c.*2155G>A, XM_047420242.1:c.*2155G>C, XM_047420242.1:c.*2155G>A, XM_047420255.1:c.*2155G>C, XM_047420255.1:c.*2155G>A, XM_047420253.1:c.*2155G>C, XM_047420253.1:c.*2155G>A, XM_047420251.1:c.*2155G>C, XM_047420251.1:c.*2155G>A, XM_047420245.1:c.*2155G>C, XM_047420245.1:c.*2155G>A, XM_047420234.1:c.*2155G>C, XM_047420234.1:c.*2155G>A, XM_047420246.1:c.*2155G>C, XM_047420246.1:c.*2155G>A, XM_047420240.1:c.*2155G>C, XM_047420240.1:c.*2155G>A, XM_047420247.1:c.*2155G>C, XM_047420247.1:c.*2155G>A, XM_047420235.1:c.*2155G>C, XM_047420235.1:c.*2155G>A, XM_047420236.1:c.*2155G>C, XM_047420236.1:c.*2155G>A, XM_047420244.1:c.*2155G>C, XM_047420244.1:c.*2155G>A, XM_047420248.1:c.*2155G>C, XM_047420248.1:c.*2155G>A, XM_047420233.1:c.*2155G>C, XM_047420233.1:c.*2155G>A, XM_047420249.1:c.*2155G>C, XM_047420249.1:c.*2155G>A, XM_017012058.1:c.*2155G>C, XM_017012058.1:c.*2155G>A, XM_047420243.1:c.*2155G>C, XM_047420243.1:c.*2155G>A, XM_047420238.1:c.*2155G>C, XM_047420238.1:c.*2155G>A, XM_047420237.1:c.*2155G>C, XM_047420237.1:c.*2155G>A, XM_047420241.1:c.*2155G>C, XM_047420241.1:c.*2155G>A, XM_047420232.1:c.*2155G>C, XM_047420232.1:c.*2155G>A, XM_047420252.1:c.*2155G>C, XM_047420252.1:c.*2155G>A, XM_047420250.1:c.*2155G>C, XM_047420250.1:c.*2155G>A, XM_017012045.1:c.*2155G>C, XM_017012045.1:c.*2155G>A, XM_047420256.1:c.*2155G>C, XM_047420256.1:c.*2155G>A

                    10.

                    rs1482863838 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      7:50595516 (GRCh38)
                      7:50663213 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:50595515:C:T
                      Gene:
                      GRB10 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      HGVS:
                      NC_000007.14:g.50595516C>T, NC_000007.13:g.50663213C>T, NG_012305.2:g.202947G>A, NM_001350816.3:c.1385G>A, NM_001350816.2:c.1541G>A, NM_001350816.1:c.1541G>A, NM_001001555.3:c.1385G>A, NM_001001555.2:c.1385G>A, NM_001001550.3:c.1385G>A, NM_001001550.2:c.1385G>A, NM_001001549.3:c.1421G>A, NM_001001549.2:c.1421G>A, NM_001350814.2:c.1559G>A, NM_001350814.1:c.1559G>A, NM_001350815.2:c.1673G>A, NM_001350815.1:c.1673G>A, NM_001371009.1:c.1706G>A, NM_001371008.1:c.1385G>A, NM_005311.4:c.1559G>A, XM_017012029.3:c.1907G>A, XM_017012029.2:c.1907G>A, XM_017012029.1:c.1907G>A, XM_017012030.3:c.1841G>A, XM_017012030.2:c.1841G>A, XM_017012030.1:c.1841G>A, XM_017012031.3:c.1772G>A, XM_017012031.2:c.1772G>A, XM_017012031.1:c.1772G>A, XM_017012061.3:c.1520G>A, XM_017012061.2:c.1520G>A, XM_017012061.1:c.1520G>A, XM_017012062.3:c.1520G>A, XM_017012062.2:c.1520G>A, XM_017012062.1:c.1520G>A, XM_024446726.2:c.1808G>A, XM_024446726.1:c.1808G>A, XM_017012034.2:c.1694G>A, XM_017012034.1:c.1694G>A, XM_024446729.2:c.1520G>A, XM_024446729.1:c.1520G>A, XM_047420254.1:c.1385G>A, XM_047420242.1:c.1556G>A, XM_047420255.1:c.1385G>A, XM_047420253.1:c.1385G>A, XM_047420251.1:c.1520G>A, XM_047420245.1:c.1520G>A, XM_047420234.1:c.1676G>A, XM_047420246.1:c.1520G>A, XM_047420240.1:c.1676G>A, XM_047420247.1:c.1520G>A, XM_047420235.1:c.1676G>A, XM_047420236.1:c.1676G>A, XM_047420244.1:c.1541G>A, XM_047420248.1:c.1520G>A, XM_047420233.1:c.1676G>A, XM_047420249.1:c.1520G>A, XM_017012058.1:c.1520G>A, XM_047420243.1:c.1541G>A, XM_047420238.1:c.1676G>A, XM_047420237.1:c.1676G>A, XM_047420241.1:c.1559G>A, XM_047420232.1:c.1694G>A, XM_047420252.1:c.1385G>A, XM_047420250.1:c.1520G>A, XM_017012045.1:c.1385G>A, XM_047420256.1:c.998G>A, NP_001337745.2:p.Arg462His, NP_001001555.1:p.Arg462His, NP_001001550.1:p.Arg462His, NP_001001549.1:p.Arg474His, NP_001337743.1:p.Arg520His, NP_001337744.1:p.Arg558His, NP_001357938.1:p.Arg569His, NP_001357937.1:p.Arg462His, XP_016867518.1:p.Arg636His, XP_016867519.1:p.Arg614His, XP_016867520.1:p.Arg591His, XP_016867550.1:p.Arg507His, XP_016867551.1:p.Arg507His, XP_024302494.1:p.Arg603His, XP_016867523.1:p.Arg565His, XP_024302497.1:p.Arg507His, XP_047276210.1:p.Arg462His, XP_047276198.1:p.Arg519His, XP_047276211.1:p.Arg462His, XP_047276209.1:p.Arg462His, XP_047276207.1:p.Arg507His, XP_047276201.1:p.Arg507His, XP_047276190.1:p.Arg559His, XP_047276202.1:p.Arg507His, XP_047276196.1:p.Arg559His, XP_047276203.1:p.Arg507His, XP_047276191.1:p.Arg559His, XP_047276192.1:p.Arg559His, XP_047276200.1:p.Arg514His, XP_047276204.1:p.Arg507His, XP_047276189.1:p.Arg559His, XP_047276205.1:p.Arg507His, XP_016867547.1:p.Arg507His, XP_047276199.1:p.Arg514His, XP_047276194.1:p.Arg559His, XP_047276193.1:p.Arg559His, XP_047276197.1:p.Arg520His, XP_047276188.1:p.Arg565His, XP_047276208.1:p.Arg462His, XP_047276206.1:p.Arg507His, XP_016867534.1:p.Arg462His, XP_047276212.1:p.Arg333His

                      11.

                      rs1482788761 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        7:50705144 (GRCh38)
                        7:50772841 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:50705143:G:A
                        Gene:
                        GRB10 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000007/1 (GnomAD)
                        HGVS:

                        12.

                        rs1481784866 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          7:50592836 (GRCh38)
                          7:50660533 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:50592835:C:T
                          Gene:
                          GRB10 (Varview)
                          Functional Consequence:
                          3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000007.14:g.50592836C>T, NC_000007.13:g.50660533C>T, NG_012305.2:g.205627G>A, NM_001350816.3:c.*116G>A, NM_001350816.2:c.*116G>A, NM_001350816.1:c.*116G>A, NM_001001555.3:c.*116G>A, NM_001001555.2:c.*116G>A, NM_001001550.3:c.*116G>A, NM_001001550.2:c.*116G>A, NM_001001549.3:c.*116G>A, NM_001001549.2:c.*116G>A, NM_001350814.2:c.*116G>A, NM_001350814.1:c.*116G>A, NM_001350815.2:c.*116G>A, NM_001350815.1:c.*116G>A, NM_001371009.1:c.*116G>A, NM_001371008.1:c.*116G>A, NM_005311.4:c.*116G>A, XM_017012029.3:c.*116G>A, XM_017012029.2:c.*116G>A, XM_017012029.1:c.*116G>A, XM_017012030.3:c.*116G>A, XM_017012030.2:c.*116G>A, XM_017012030.1:c.*116G>A, XM_017012031.3:c.*116G>A, XM_017012031.2:c.*116G>A, XM_017012031.1:c.*116G>A, XM_017012061.3:c.*116G>A, XM_017012061.2:c.*116G>A, XM_017012061.1:c.*116G>A, XM_017012062.3:c.*116G>A, XM_017012062.2:c.*116G>A, XM_017012062.1:c.*116G>A, XM_024446726.2:c.*116G>A, XM_024446726.1:c.*116G>A, XM_017012034.2:c.*116G>A, XM_017012034.1:c.*116G>A, XM_024446729.2:c.*116G>A, XM_024446729.1:c.*116G>A, XM_047420254.1:c.*116G>A, XM_047420242.1:c.*116G>A, XM_047420255.1:c.*116G>A, XM_047420253.1:c.*116G>A, XM_047420251.1:c.*116G>A, XM_047420245.1:c.*116G>A, XM_047420234.1:c.*116G>A, XM_047420246.1:c.*116G>A, XM_047420240.1:c.*116G>A, XM_047420247.1:c.*116G>A, XM_047420235.1:c.*116G>A, XM_047420236.1:c.*116G>A, XM_047420244.1:c.*116G>A, XM_047420248.1:c.*116G>A, XM_047420233.1:c.*116G>A, XM_047420249.1:c.*116G>A, XM_017012058.1:c.*116G>A, XM_047420243.1:c.*116G>A, XM_047420238.1:c.*116G>A, XM_047420237.1:c.*116G>A, XM_047420241.1:c.*116G>A, XM_047420232.1:c.*116G>A, XM_047420252.1:c.*116G>A, XM_047420250.1:c.*116G>A, XM_017012045.1:c.*116G>A, XM_047420256.1:c.*116G>A

                          13.

                          rs1479797882 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A [Show Flanks]
                            Chromosome:
                            7:50592064 (GRCh38)
                            7:50659761 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:50592063:C:A
                            Gene:
                            GRB10 (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000014/2 (GnomAD)
                            HGVS:
                            NC_000007.14:g.50592064C>A, NC_000007.13:g.50659761C>A, NG_012305.2:g.206399G>T, NM_001350816.3:c.*888G>T, NM_001350816.2:c.*888G>T, NM_001350816.1:c.*888G>T, NM_001001555.3:c.*888G>T, NM_001001555.2:c.*888G>T, NM_001001550.3:c.*888G>T, NM_001001550.2:c.*888G>T, NM_001001549.3:c.*888G>T, NM_001001549.2:c.*888G>T, NM_001350814.2:c.*888G>T, NM_001350814.1:c.*888G>T, NM_001350815.2:c.*888G>T, NM_001350815.1:c.*888G>T, NM_001371009.1:c.*888G>T, NM_001371008.1:c.*888G>T, NM_005311.4:c.*888G>T, XM_017012029.3:c.*888G>T, XM_017012029.2:c.*888G>T, XM_017012029.1:c.*888G>T, XM_017012030.3:c.*888G>T, XM_017012030.2:c.*888G>T, XM_017012030.1:c.*888G>T, XM_017012031.3:c.*888G>T, XM_017012031.2:c.*888G>T, XM_017012031.1:c.*888G>T, XM_017012061.3:c.*888G>T, XM_017012061.2:c.*888G>T, XM_017012061.1:c.*888G>T, XM_017012062.3:c.*888G>T, XM_017012062.2:c.*888G>T, XM_017012062.1:c.*888G>T, XM_024446726.2:c.*888G>T, XM_024446726.1:c.*888G>T, XM_017012034.2:c.*888G>T, XM_017012034.1:c.*888G>T, XM_024446729.2:c.*888G>T, XM_024446729.1:c.*888G>T, XM_047420254.1:c.*888G>T, XM_047420242.1:c.*888G>T, XM_047420255.1:c.*888G>T, XM_047420253.1:c.*888G>T, XM_047420251.1:c.*888G>T, XM_047420245.1:c.*888G>T, XM_047420234.1:c.*888G>T, XM_047420246.1:c.*888G>T, XM_047420240.1:c.*888G>T, XM_047420247.1:c.*888G>T, XM_047420235.1:c.*888G>T, XM_047420236.1:c.*888G>T, XM_047420244.1:c.*888G>T, XM_047420248.1:c.*888G>T, XM_047420233.1:c.*888G>T, XM_047420249.1:c.*888G>T, XM_017012058.1:c.*888G>T, XM_047420243.1:c.*888G>T, XM_047420238.1:c.*888G>T, XM_047420237.1:c.*888G>T, XM_047420241.1:c.*888G>T, XM_047420232.1:c.*888G>T, XM_047420252.1:c.*888G>T, XM_047420250.1:c.*888G>T, XM_017012045.1:c.*888G>T, XM_047420256.1:c.*888G>T

                            14.

                            rs1478775756 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              7:50590822 (GRCh38)
                              7:50658519 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:50590821:G:A
                              Gene:
                              GRB10 (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0.000142/2 (ALFA)
                              A=0.000007/1 (GnomAD)
                              A=0.000023/6 (TOPMED)
                              A=0.000035/1 (TOMMO)
                              HGVS:
                              NC_000007.14:g.50590822G>A, NC_000007.13:g.50658519G>A, NG_012305.2:g.207641C>T, NM_001350816.3:c.*2130C>T, NM_001350816.2:c.*2130C>T, NM_001350816.1:c.*2130C>T, NM_001001555.3:c.*2130C>T, NM_001001555.2:c.*2130C>T, NM_001001550.3:c.*2130C>T, NM_001001550.2:c.*2130C>T, NM_001001549.3:c.*2130C>T, NM_001001549.2:c.*2130C>T, NM_001350814.2:c.*2130C>T, NM_001350814.1:c.*2130C>T, NM_001350815.2:c.*2130C>T, NM_001350815.1:c.*2130C>T, NM_001371009.1:c.*2130C>T, NM_001371008.1:c.*2130C>T, NM_005311.4:c.*2130C>T, XM_017012029.3:c.*2130C>T, XM_017012029.2:c.*2130C>T, XM_017012029.1:c.*2130C>T, XM_017012030.3:c.*2130C>T, XM_017012030.2:c.*2130C>T, XM_017012030.1:c.*2130C>T, XM_017012031.3:c.*2130C>T, XM_017012031.2:c.*2130C>T, XM_017012031.1:c.*2130C>T, XM_017012061.3:c.*2130C>T, XM_017012061.2:c.*2130C>T, XM_017012061.1:c.*2130C>T, XM_017012062.3:c.*2130C>T, XM_017012062.2:c.*2130C>T, XM_017012062.1:c.*2130C>T, XM_024446726.2:c.*2130C>T, XM_024446726.1:c.*2130C>T, XM_017012034.2:c.*2130C>T, XM_017012034.1:c.*2130C>T, XM_024446729.2:c.*2130C>T, XM_024446729.1:c.*2130C>T, XM_047420254.1:c.*2130C>T, XM_047420242.1:c.*2130C>T, XM_047420255.1:c.*2130C>T, XM_047420253.1:c.*2130C>T, XM_047420251.1:c.*2130C>T, XM_047420245.1:c.*2130C>T, XM_047420234.1:c.*2130C>T, XM_047420246.1:c.*2130C>T, XM_047420240.1:c.*2130C>T, XM_047420247.1:c.*2130C>T, XM_047420235.1:c.*2130C>T, XM_047420236.1:c.*2130C>T, XM_047420244.1:c.*2130C>T, XM_047420248.1:c.*2130C>T, XM_047420233.1:c.*2130C>T, XM_047420249.1:c.*2130C>T, XM_017012058.1:c.*2130C>T, XM_047420243.1:c.*2130C>T, XM_047420238.1:c.*2130C>T, XM_047420237.1:c.*2130C>T, XM_047420241.1:c.*2130C>T, XM_047420232.1:c.*2130C>T, XM_047420252.1:c.*2130C>T, XM_047420250.1:c.*2130C>T, XM_017012045.1:c.*2130C>T, XM_047420256.1:c.*2130C>T

                              15.

                              rs1477949512 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                7:50616240 (GRCh38)
                                7:50683937 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:50616239:G:C
                                Gene:
                                GRB10 (Varview)
                                Functional Consequence:
                                intron_variant,coding_sequence_variant,synonymous_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000007/1 (GnomAD)
                                C=0.000008/2 (TOPMED)
                                HGVS:
                                NC_000007.14:g.50616240G>C, NC_000007.13:g.50683937G>C, NG_012305.2:g.182223C>G, NM_001350816.3:c.780C>G, NM_001350816.2:c.936C>G, NM_001350816.1:c.936C>G, NM_001001555.3:c.780C>G, NM_001001555.2:c.780C>G, NM_001001550.3:c.780C>G, NM_001001550.2:c.780C>G, NM_001350814.2:c.954C>G, NM_001350814.1:c.954C>G, NM_001350815.2:c.1068C>G, NM_001350815.1:c.1068C>G, NM_001371009.1:c.1101C>G, NM_001371008.1:c.780C>G, NM_005311.4:c.954C>G, XM_017012029.3:c.1302C>G, XM_017012029.2:c.1302C>G, XM_017012029.1:c.1302C>G, XM_017012030.3:c.1236C>G, XM_017012030.2:c.1236C>G, XM_017012030.1:c.1236C>G, XM_017012031.3:c.1167C>G, XM_017012031.2:c.1167C>G, XM_017012031.1:c.1167C>G, XM_017012061.3:c.915C>G, XM_017012061.2:c.915C>G, XM_017012061.1:c.915C>G, XM_017012062.3:c.915C>G, XM_017012062.2:c.915C>G, XM_017012062.1:c.915C>G, XM_024446726.2:c.1203C>G, XM_024446726.1:c.1203C>G, XM_017012034.2:c.1089C>G, XM_017012034.1:c.1089C>G, XM_024446729.2:c.915C>G, XM_024446729.1:c.915C>G, XM_047420254.1:c.780C>G, XM_047420242.1:c.951C>G, XM_047420255.1:c.780C>G, XM_047420253.1:c.780C>G, XM_047420251.1:c.915C>G, XM_047420245.1:c.915C>G, XM_047420234.1:c.1071C>G, XM_047420246.1:c.915C>G, XM_047420240.1:c.1071C>G, XM_047420247.1:c.915C>G, XM_047420235.1:c.1071C>G, XM_047420236.1:c.1071C>G, XM_047420244.1:c.936C>G, XM_047420248.1:c.915C>G, XM_047420233.1:c.1071C>G, XM_047420249.1:c.915C>G, XM_017012058.1:c.915C>G, XM_047420243.1:c.936C>G, XM_047420238.1:c.1071C>G, XM_047420237.1:c.1071C>G, XM_047420241.1:c.954C>G, XM_047420232.1:c.1089C>G, XM_047420252.1:c.780C>G, XM_047420250.1:c.915C>G, XM_017012045.1:c.780C>G, XM_047420256.1:c.393C>G

                                16.

                                rs1477630287 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>G [Show Flanks]
                                  Chromosome:
                                  7:50592980 (GRCh38)
                                  7:50660677 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:50592979:T:G
                                  Gene:
                                  GRB10 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  G=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000007.14:g.50592980T>G, NC_000007.13:g.50660677T>G, NG_012305.2:g.205483A>C, NM_001350816.3:c.1583A>C, NM_001350816.2:c.1739A>C, NM_001350816.1:c.1739A>C, NM_001001555.3:c.1583A>C, NM_001001555.2:c.1583A>C, NM_001001550.3:c.1583A>C, NM_001001550.2:c.1583A>C, NM_001001549.3:c.1619A>C, NM_001001549.2:c.1619A>C, NM_001350814.2:c.1757A>C, NM_001350814.1:c.1757A>C, NM_001350815.2:c.1871A>C, NM_001350815.1:c.1871A>C, NM_001371009.1:c.1904A>C, NM_001371008.1:c.1583A>C, NM_005311.4:c.1757A>C, XM_017012029.3:c.2105A>C, XM_017012029.2:c.2105A>C, XM_017012029.1:c.2105A>C, XM_017012030.3:c.2039A>C, XM_017012030.2:c.2039A>C, XM_017012030.1:c.2039A>C, XM_017012031.3:c.1970A>C, XM_017012031.2:c.1970A>C, XM_017012031.1:c.1970A>C, XM_017012061.3:c.1718A>C, XM_017012061.2:c.1718A>C, XM_017012061.1:c.1718A>C, XM_017012062.3:c.1718A>C, XM_017012062.2:c.1718A>C, XM_017012062.1:c.1718A>C, XM_024446726.2:c.2006A>C, XM_024446726.1:c.2006A>C, XM_017012034.2:c.1892A>C, XM_017012034.1:c.1892A>C, XM_024446729.2:c.1718A>C, XM_024446729.1:c.1718A>C, XM_047420254.1:c.1583A>C, XM_047420242.1:c.1754A>C, XM_047420255.1:c.1583A>C, XM_047420253.1:c.1583A>C, XM_047420251.1:c.1718A>C, XM_047420245.1:c.1718A>C, XM_047420234.1:c.1874A>C, XM_047420246.1:c.1718A>C, XM_047420240.1:c.1874A>C, XM_047420247.1:c.1718A>C, XM_047420235.1:c.1874A>C, XM_047420236.1:c.1874A>C, XM_047420244.1:c.1739A>C, XM_047420248.1:c.1718A>C, XM_047420233.1:c.1874A>C, XM_047420249.1:c.1718A>C, XM_017012058.1:c.1718A>C, XM_047420243.1:c.1739A>C, XM_047420238.1:c.1874A>C, XM_047420237.1:c.1874A>C, XM_047420241.1:c.1757A>C, XM_047420232.1:c.1892A>C, XM_047420252.1:c.1583A>C, XM_047420250.1:c.1718A>C, XM_017012045.1:c.1583A>C, XM_047420256.1:c.1196A>C, NP_001337745.2:p.Lys528Thr, NP_001001555.1:p.Lys528Thr, NP_001001550.1:p.Lys528Thr, NP_001001549.1:p.Lys540Thr, NP_001337743.1:p.Lys586Thr, NP_001337744.1:p.Lys624Thr, NP_001357938.1:p.Lys635Thr, NP_001357937.1:p.Lys528Thr, XP_016867518.1:p.Lys702Thr, XP_016867519.1:p.Lys680Thr, XP_016867520.1:p.Lys657Thr, XP_016867550.1:p.Lys573Thr, XP_016867551.1:p.Lys573Thr, XP_024302494.1:p.Lys669Thr, XP_016867523.1:p.Lys631Thr, XP_024302497.1:p.Lys573Thr, XP_047276210.1:p.Lys528Thr, XP_047276198.1:p.Lys585Thr, XP_047276211.1:p.Lys528Thr, XP_047276209.1:p.Lys528Thr, XP_047276207.1:p.Lys573Thr, XP_047276201.1:p.Lys573Thr, XP_047276190.1:p.Lys625Thr, XP_047276202.1:p.Lys573Thr, XP_047276196.1:p.Lys625Thr, XP_047276203.1:p.Lys573Thr, XP_047276191.1:p.Lys625Thr, XP_047276192.1:p.Lys625Thr, XP_047276200.1:p.Lys580Thr, XP_047276204.1:p.Lys573Thr, XP_047276189.1:p.Lys625Thr, XP_047276205.1:p.Lys573Thr, XP_016867547.1:p.Lys573Thr, XP_047276199.1:p.Lys580Thr, XP_047276194.1:p.Lys625Thr, XP_047276193.1:p.Lys625Thr, XP_047276197.1:p.Lys586Thr, XP_047276188.1:p.Lys631Thr, XP_047276208.1:p.Lys528Thr, XP_047276206.1:p.Lys573Thr, XP_016867534.1:p.Lys528Thr, XP_047276212.1:p.Lys399Thr

                                  17.

                                  rs1477454714 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    7:50604362 (GRCh38)
                                    7:50672059 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:50604361:T:G
                                    Gene:
                                    GRB10 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0.000071/1 (ALFA)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000007.14:g.50604362T>G, NC_000007.13:g.50672059T>G, NG_012305.2:g.194101A>C, NM_001350816.3:c.1231A>C, NM_001350816.2:c.1387A>C, NM_001350816.1:c.1387A>C, NM_001001555.3:c.1231A>C, NM_001001555.2:c.1231A>C, NM_001001550.3:c.1231A>C, NM_001001550.2:c.1231A>C, NM_001001549.3:c.1267A>C, NM_001001549.2:c.1267A>C, NM_001350814.2:c.1405A>C, NM_001350814.1:c.1405A>C, NM_001350815.2:c.1519A>C, NM_001350815.1:c.1519A>C, NM_001371009.1:c.1552A>C, NM_001371008.1:c.1231A>C, NM_005311.4:c.1405A>C, XM_017012029.3:c.1753A>C, XM_017012029.2:c.1753A>C, XM_017012029.1:c.1753A>C, XM_017012030.3:c.1687A>C, XM_017012030.2:c.1687A>C, XM_017012030.1:c.1687A>C, XM_017012031.3:c.1618A>C, XM_017012031.2:c.1618A>C, XM_017012031.1:c.1618A>C, XM_017012061.3:c.1366A>C, XM_017012061.2:c.1366A>C, XM_017012061.1:c.1366A>C, XM_017012062.3:c.1366A>C, XM_017012062.2:c.1366A>C, XM_017012062.1:c.1366A>C, XM_024446726.2:c.1654A>C, XM_024446726.1:c.1654A>C, XM_017012034.2:c.1540A>C, XM_017012034.1:c.1540A>C, XM_024446729.2:c.1366A>C, XM_024446729.1:c.1366A>C, XM_047420254.1:c.1231A>C, XM_047420242.1:c.1402A>C, XM_047420255.1:c.1231A>C, XM_047420253.1:c.1231A>C, XM_047420251.1:c.1366A>C, XM_047420245.1:c.1366A>C, XM_047420234.1:c.1522A>C, XM_047420246.1:c.1366A>C, XM_047420240.1:c.1522A>C, XM_047420247.1:c.1366A>C, XM_047420235.1:c.1522A>C, XM_047420236.1:c.1522A>C, XM_047420244.1:c.1387A>C, XM_047420248.1:c.1366A>C, XM_047420233.1:c.1522A>C, XM_047420249.1:c.1366A>C, XM_017012058.1:c.1366A>C, XM_047420243.1:c.1387A>C, XM_047420238.1:c.1522A>C, XM_047420237.1:c.1522A>C, XM_047420241.1:c.1405A>C, XM_047420232.1:c.1540A>C, XM_047420252.1:c.1231A>C, XM_047420250.1:c.1366A>C, XM_017012045.1:c.1231A>C, XM_047420256.1:c.844A>C, NP_001337745.2:p.Met411Leu, NP_001001555.1:p.Met411Leu, NP_001001550.1:p.Met411Leu, NP_001001549.1:p.Met423Leu, NP_001337743.1:p.Met469Leu, NP_001337744.1:p.Met507Leu, NP_001357938.1:p.Met518Leu, NP_001357937.1:p.Met411Leu, XP_016867518.1:p.Met585Leu, XP_016867519.1:p.Met563Leu, XP_016867520.1:p.Met540Leu, XP_016867550.1:p.Met456Leu, XP_016867551.1:p.Met456Leu, XP_024302494.1:p.Met552Leu, XP_016867523.1:p.Met514Leu, XP_024302497.1:p.Met456Leu, XP_047276210.1:p.Met411Leu, XP_047276198.1:p.Met468Leu, XP_047276211.1:p.Met411Leu, XP_047276209.1:p.Met411Leu, XP_047276207.1:p.Met456Leu, XP_047276201.1:p.Met456Leu, XP_047276190.1:p.Met508Leu, XP_047276202.1:p.Met456Leu, XP_047276196.1:p.Met508Leu, XP_047276203.1:p.Met456Leu, XP_047276191.1:p.Met508Leu, XP_047276192.1:p.Met508Leu, XP_047276200.1:p.Met463Leu, XP_047276204.1:p.Met456Leu, XP_047276189.1:p.Met508Leu, XP_047276205.1:p.Met456Leu, XP_016867547.1:p.Met456Leu, XP_047276199.1:p.Met463Leu, XP_047276194.1:p.Met508Leu, XP_047276193.1:p.Met508Leu, XP_047276197.1:p.Met469Leu, XP_047276188.1:p.Met514Leu, XP_047276208.1:p.Met411Leu, XP_047276206.1:p.Met456Leu, XP_016867534.1:p.Met411Leu, XP_047276212.1:p.Met282Leu

                                    18.

                                    rs1477084642 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>T [Show Flanks]
                                      Chromosome:
                                      7:50592609 (GRCh38)
                                      7:50660306 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:50592608:A:T
                                      Gene:
                                      GRB10 (Varview)
                                      Functional Consequence:
                                      3_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000007.14:g.50592609A>T, NC_000007.13:g.50660306A>T, NG_012305.2:g.205854T>A, NM_001350816.3:c.*343T>A, NM_001350816.2:c.*343T>A, NM_001350816.1:c.*343T>A, NM_001001555.3:c.*343T>A, NM_001001555.2:c.*343T>A, NM_001001550.3:c.*343T>A, NM_001001550.2:c.*343T>A, NM_001001549.3:c.*343T>A, NM_001001549.2:c.*343T>A, NM_001350814.2:c.*343T>A, NM_001350814.1:c.*343T>A, NM_001350815.2:c.*343T>A, NM_001350815.1:c.*343T>A, NM_001371009.1:c.*343T>A, NM_001371008.1:c.*343T>A, NM_005311.4:c.*343T>A, XM_017012029.3:c.*343T>A, XM_017012029.2:c.*343T>A, XM_017012029.1:c.*343T>A, XM_017012030.3:c.*343T>A, XM_017012030.2:c.*343T>A, XM_017012030.1:c.*343T>A, XM_017012031.3:c.*343T>A, XM_017012031.2:c.*343T>A, XM_017012031.1:c.*343T>A, XM_017012061.3:c.*343T>A, XM_017012061.2:c.*343T>A, XM_017012061.1:c.*343T>A, XM_017012062.3:c.*343T>A, XM_017012062.2:c.*343T>A, XM_017012062.1:c.*343T>A, XM_024446726.2:c.*343T>A, XM_024446726.1:c.*343T>A, XM_017012034.2:c.*343T>A, XM_017012034.1:c.*343T>A, XM_024446729.2:c.*343T>A, XM_024446729.1:c.*343T>A, XM_047420254.1:c.*343T>A, XM_047420242.1:c.*343T>A, XM_047420255.1:c.*343T>A, XM_047420253.1:c.*343T>A, XM_047420251.1:c.*343T>A, XM_047420245.1:c.*343T>A, XM_047420234.1:c.*343T>A, XM_047420246.1:c.*343T>A, XM_047420240.1:c.*343T>A, XM_047420247.1:c.*343T>A, XM_047420235.1:c.*343T>A, XM_047420236.1:c.*343T>A, XM_047420244.1:c.*343T>A, XM_047420248.1:c.*343T>A, XM_047420233.1:c.*343T>A, XM_047420249.1:c.*343T>A, XM_017012058.1:c.*343T>A, XM_047420243.1:c.*343T>A, XM_047420238.1:c.*343T>A, XM_047420237.1:c.*343T>A, XM_047420241.1:c.*343T>A, XM_047420232.1:c.*343T>A, XM_047420252.1:c.*343T>A, XM_047420250.1:c.*343T>A, XM_017012045.1:c.*343T>A, XM_047420256.1:c.*343T>A

                                      19.

                                      rs1477083539 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        7:50626969 (GRCh38)
                                        7:50694666 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:50626968:C:G
                                        Gene:
                                        GRB10 (Varview)
                                        Functional Consequence:
                                        missense_variant,5_prime_UTR_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000007/1 (GnomAD)
                                        G=0.000008/2 (TOPMED)
                                        HGVS:
                                        NC_000007.14:g.50626969C>G, NC_000007.13:g.50694666C>G, NG_012305.2:g.171494G>C, NM_001350816.3:c.340G>C, NM_001350816.2:c.496G>C, NM_001350816.1:c.496G>C, NM_001001555.3:c.340G>C, NM_001001555.2:c.340G>C, NM_001001550.3:c.340G>C, NM_001001550.2:c.340G>C, NM_001001549.3:c.514G>C, NM_001001549.2:c.514G>C, NM_001350814.2:c.514G>C, NM_001350814.1:c.514G>C, NM_001350815.2:c.628G>C, NM_001350815.1:c.628G>C, NM_001371009.1:c.661G>C, NM_001371008.1:c.340G>C, NM_005311.4:c.514G>C, XM_017012029.3:c.862G>C, XM_017012029.2:c.862G>C, XM_017012029.1:c.862G>C, XM_017012030.3:c.796G>C, XM_017012030.2:c.796G>C, XM_017012030.1:c.796G>C, XM_017012031.3:c.727G>C, XM_017012031.2:c.727G>C, XM_017012031.1:c.727G>C, XM_017012061.3:c.475G>C, XM_017012061.2:c.475G>C, XM_017012061.1:c.475G>C, XM_017012062.3:c.475G>C, XM_017012062.2:c.475G>C, XM_017012062.1:c.475G>C, XM_024446726.2:c.763G>C, XM_024446726.1:c.763G>C, XM_017012034.2:c.649G>C, XM_017012034.1:c.649G>C, XM_024446729.2:c.475G>C, XM_024446729.1:c.475G>C, XM_047420254.1:c.340G>C, XM_047420242.1:c.511G>C, XM_047420255.1:c.340G>C, XM_047420253.1:c.340G>C, XM_047420251.1:c.475G>C, XM_047420245.1:c.475G>C, XM_047420234.1:c.631G>C, XM_047420246.1:c.475G>C, XM_047420240.1:c.631G>C, XM_047420247.1:c.475G>C, XM_047420235.1:c.631G>C, XM_047420236.1:c.631G>C, XM_047420244.1:c.496G>C, XM_047420248.1:c.475G>C, XM_047420233.1:c.631G>C, XM_047420249.1:c.475G>C, XM_017012058.1:c.475G>C, XM_047420243.1:c.496G>C, XM_047420238.1:c.631G>C, XM_047420237.1:c.631G>C, XM_047420241.1:c.514G>C, XM_047420232.1:c.649G>C, XM_047420252.1:c.340G>C, XM_047420250.1:c.475G>C, XM_017012045.1:c.340G>C, XM_047420256.1:c.-48G>C, NP_001337745.2:p.Val114Leu, NP_001001555.1:p.Val114Leu, NP_001001550.1:p.Val114Leu, NP_001001549.1:p.Val172Leu, NP_001337743.1:p.Val172Leu, NP_001337744.1:p.Val210Leu, NP_001357938.1:p.Val221Leu, NP_001357937.1:p.Val114Leu, XP_016867518.1:p.Val288Leu, XP_016867519.1:p.Val266Leu, XP_016867520.1:p.Val243Leu, XP_016867550.1:p.Val159Leu, XP_016867551.1:p.Val159Leu, XP_024302494.1:p.Val255Leu, XP_016867523.1:p.Val217Leu, XP_024302497.1:p.Val159Leu, XP_047276210.1:p.Val114Leu, XP_047276198.1:p.Val171Leu, XP_047276211.1:p.Val114Leu, XP_047276209.1:p.Val114Leu, XP_047276207.1:p.Val159Leu, XP_047276201.1:p.Val159Leu, XP_047276190.1:p.Val211Leu, XP_047276202.1:p.Val159Leu, XP_047276196.1:p.Val211Leu, XP_047276203.1:p.Val159Leu, XP_047276191.1:p.Val211Leu, XP_047276192.1:p.Val211Leu, XP_047276200.1:p.Val166Leu, XP_047276204.1:p.Val159Leu, XP_047276189.1:p.Val211Leu, XP_047276205.1:p.Val159Leu, XP_016867547.1:p.Val159Leu, XP_047276199.1:p.Val166Leu, XP_047276194.1:p.Val211Leu, XP_047276193.1:p.Val211Leu, XP_047276197.1:p.Val172Leu, XP_047276188.1:p.Val217Leu, XP_047276208.1:p.Val114Leu, XP_047276206.1:p.Val159Leu, XP_016867534.1:p.Val114Leu

                                        20.

                                        rs1476319071 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          7:50616312 (GRCh38)
                                          7:50684009 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:50616311:T:C
                                          Gene:
                                          GRB10 (Varview)
                                          Functional Consequence:
                                          intron_variant,coding_sequence_variant,synonymous_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000007.14:g.50616312T>C, NC_000007.13:g.50684009T>C, NG_012305.2:g.182151A>G, NM_001350816.3:c.708A>G, NM_001350816.2:c.864A>G, NM_001350816.1:c.864A>G, NM_001001555.3:c.708A>G, NM_001001555.2:c.708A>G, NM_001001550.3:c.708A>G, NM_001001550.2:c.708A>G, NM_001350814.2:c.882A>G, NM_001350814.1:c.882A>G, NM_001350815.2:c.996A>G, NM_001350815.1:c.996A>G, NM_001371009.1:c.1029A>G, NM_001371008.1:c.708A>G, NM_005311.4:c.882A>G, XM_017012029.3:c.1230A>G, XM_017012029.2:c.1230A>G, XM_017012029.1:c.1230A>G, XM_017012030.3:c.1164A>G, XM_017012030.2:c.1164A>G, XM_017012030.1:c.1164A>G, XM_017012031.3:c.1095A>G, XM_017012031.2:c.1095A>G, XM_017012031.1:c.1095A>G, XM_017012061.3:c.843A>G, XM_017012061.2:c.843A>G, XM_017012061.1:c.843A>G, XM_017012062.3:c.843A>G, XM_017012062.2:c.843A>G, XM_017012062.1:c.843A>G, XM_024446726.2:c.1131A>G, XM_024446726.1:c.1131A>G, XM_017012034.2:c.1017A>G, XM_017012034.1:c.1017A>G, XM_024446729.2:c.843A>G, XM_024446729.1:c.843A>G, XM_047420254.1:c.708A>G, XM_047420242.1:c.879A>G, XM_047420255.1:c.708A>G, XM_047420253.1:c.708A>G, XM_047420251.1:c.843A>G, XM_047420245.1:c.843A>G, XM_047420234.1:c.999A>G, XM_047420246.1:c.843A>G, XM_047420240.1:c.999A>G, XM_047420247.1:c.843A>G, XM_047420235.1:c.999A>G, XM_047420236.1:c.999A>G, XM_047420244.1:c.864A>G, XM_047420248.1:c.843A>G, XM_047420233.1:c.999A>G, XM_047420249.1:c.843A>G, XM_017012058.1:c.843A>G, XM_047420243.1:c.864A>G, XM_047420238.1:c.999A>G, XM_047420237.1:c.999A>G, XM_047420241.1:c.882A>G, XM_047420232.1:c.1017A>G, XM_047420252.1:c.708A>G, XM_047420250.1:c.843A>G, XM_017012045.1:c.708A>G, XM_047420256.1:c.321A>G

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