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Items: 1 to 20 of 3655

1.
2.

rs1490443176 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A,C,G [Show Flanks]
    Chromosome:
    16:9763382 (GRCh38)
    16:9857239 (GRCh37)
    Canonical SPDI:
    NC_000016.10:9763381:T:A,NC_000016.10:9763381:T:C,NC_000016.10:9763381:T:G
    Gene:
    GRIN2A (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,stop_gained,synonymous_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0.000111/1 (ALFA)
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000016.10:g.9763382T>A, NC_000016.10:g.9763382T>C, NC_000016.10:g.9763382T>G, NC_000016.9:g.9857239T>A, NC_000016.9:g.9857239T>C, NC_000016.9:g.9857239T>G, NG_011812.2:g.424373A>T, NG_011812.2:g.424373A>G, NG_011812.2:g.424373A>C, NM_000833.5:c.4162A>T, NM_000833.5:c.4162A>G, NM_000833.5:c.4162A>C, NM_000833.4:c.4162A>T, NM_000833.4:c.4162A>G, NM_000833.4:c.4162A>C, NM_000833.3:c.4162A>T, NM_000833.3:c.4162A>G, NM_000833.3:c.4162A>C, NM_001134407.3:c.4162A>T, NM_001134407.3:c.4162A>G, NM_001134407.3:c.4162A>C, NM_001134407.2:c.4162A>T, NM_001134407.2:c.4162A>G, NM_001134407.2:c.4162A>C, NM_001134407.1:c.4162A>T, NM_001134407.1:c.4162A>G, NM_001134407.1:c.4162A>C, NM_001134408.2:c.3819A>T, NM_001134408.2:c.3819A>G, NM_001134408.2:c.3819A>C, NM_001134408.1:c.3819A>T, NM_001134408.1:c.3819A>G, NM_001134408.1:c.3819A>C, XM_017023172.2:c.4318A>T, XM_017023172.2:c.4318A>G, XM_017023172.2:c.4318A>C, XM_017023172.1:c.4318A>T, XM_017023172.1:c.4318A>G, XM_017023172.1:c.4318A>C, XM_017023173.2:c.3975A>T, XM_017023173.2:c.3975A>G, XM_017023173.2:c.3975A>C, XM_017023173.1:c.3975A>T, XM_017023173.1:c.3975A>G, XM_017023173.1:c.3975A>C, XM_047433993.1:c.4162A>T, XM_047433993.1:c.4162A>G, XM_047433993.1:c.4162A>C, XM_047433994.1:c.3819A>T, XM_047433994.1:c.3819A>G, XM_047433994.1:c.3819A>C, NP_000824.1:p.Lys1388Ter, NP_000824.1:p.Lys1388Glu, NP_000824.1:p.Lys1388Gln, NP_001127879.1:p.Lys1388Ter, NP_001127879.1:p.Lys1388Glu, NP_001127879.1:p.Lys1388Gln, XP_016878661.1:p.Lys1440Ter, XP_016878661.1:p.Lys1440Glu, XP_016878661.1:p.Lys1440Gln, XP_047289949.1:p.Lys1388Ter, XP_047289949.1:p.Lys1388Glu, XP_047289949.1:p.Lys1388Gln
    3.

    rs1490371319 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A,C,G [Show Flanks]
      Chromosome:
      16:9764092 (GRCh38)
      16:9857949 (GRCh37)
      Canonical SPDI:
      NC_000016.10:9764091:T:A,NC_000016.10:9764091:T:C,NC_000016.10:9764091:T:G
      Gene:
      GRIN2A (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      G=0.000004/1 (GnomAD_exomes)
      C=0.000004/1 (TOPMED)
      HGVS:
      NC_000016.10:g.9764092T>A, NC_000016.10:g.9764092T>C, NC_000016.10:g.9764092T>G, NC_000016.9:g.9857949T>A, NC_000016.9:g.9857949T>C, NC_000016.9:g.9857949T>G, NG_011812.2:g.423663A>T, NG_011812.2:g.423663A>G, NG_011812.2:g.423663A>C, NM_000833.5:c.3452A>T, NM_000833.5:c.3452A>G, NM_000833.5:c.3452A>C, NM_000833.4:c.3452A>T, NM_000833.4:c.3452A>G, NM_000833.4:c.3452A>C, NM_000833.3:c.3452A>T, NM_000833.3:c.3452A>G, NM_000833.3:c.3452A>C, NM_001134407.3:c.3452A>T, NM_001134407.3:c.3452A>G, NM_001134407.3:c.3452A>C, NM_001134407.2:c.3452A>T, NM_001134407.2:c.3452A>G, NM_001134407.2:c.3452A>C, NM_001134407.1:c.3452A>T, NM_001134407.1:c.3452A>G, NM_001134407.1:c.3452A>C, NM_001134408.2:c.3452A>T, NM_001134408.2:c.3452A>G, NM_001134408.2:c.3452A>C, NM_001134408.1:c.3452A>T, NM_001134408.1:c.3452A>G, NM_001134408.1:c.3452A>C, XM_017023172.2:c.3608A>T, XM_017023172.2:c.3608A>G, XM_017023172.2:c.3608A>C, XM_017023172.1:c.3608A>T, XM_017023172.1:c.3608A>G, XM_017023172.1:c.3608A>C, XM_017023173.2:c.3608A>T, XM_017023173.2:c.3608A>G, XM_017023173.2:c.3608A>C, XM_017023173.1:c.3608A>T, XM_017023173.1:c.3608A>G, XM_017023173.1:c.3608A>C, XM_047433993.1:c.3452A>T, XM_047433993.1:c.3452A>G, XM_047433993.1:c.3452A>C, XM_047433994.1:c.3452A>T, XM_047433994.1:c.3452A>G, XM_047433994.1:c.3452A>C, NP_000824.1:p.Tyr1151Phe, NP_000824.1:p.Tyr1151Cys, NP_000824.1:p.Tyr1151Ser, NP_001127879.1:p.Tyr1151Phe, NP_001127879.1:p.Tyr1151Cys, NP_001127879.1:p.Tyr1151Ser, NP_001127880.1:p.Tyr1151Phe, NP_001127880.1:p.Tyr1151Cys, NP_001127880.1:p.Tyr1151Ser, XP_016878661.1:p.Tyr1203Phe, XP_016878661.1:p.Tyr1203Cys, XP_016878661.1:p.Tyr1203Ser, XP_016878662.1:p.Tyr1203Phe, XP_016878662.1:p.Tyr1203Cys, XP_016878662.1:p.Tyr1203Ser, XP_047289949.1:p.Tyr1151Phe, XP_047289949.1:p.Tyr1151Cys, XP_047289949.1:p.Tyr1151Ser, XP_047289950.1:p.Tyr1151Phe, XP_047289950.1:p.Tyr1151Cys, XP_047289950.1:p.Tyr1151Ser
      5.

      rs1490083478 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        16:9754555 (GRCh38)
        16:9848412 (GRCh37)
        Canonical SPDI:
        NC_000016.10:9754554:C:G
        Gene:
        GRIN2A (Varview)
        Functional Consequence:
        3_prime_UTR_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        G=0.000007/1 (GnomAD)
        HGVS:
        6.

        rs1490076616 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          16:9758148 (GRCh38)
          16:9852005 (GRCh37)
          Canonical SPDI:
          NC_000016.10:9758147:T:C
          Gene:
          GRIN2A (Varview)
          Functional Consequence:
          3_prime_UTR_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000011/3 (TOPMED)
          C=0.000014/2 (GnomAD)
          HGVS:
          7.
          8.

          rs1489860803 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            16:9754859 (GRCh38)
            16:9848716 (GRCh37)
            Canonical SPDI:
            NC_000016.10:9754858:G:C
            Gene:
            GRIN2A (Varview)
            Functional Consequence:
            3_prime_UTR_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000011/3 (TOPMED)
            C=0.000021/3 (GnomAD)
            HGVS:
            10.

            rs1489261681 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,C [Show Flanks]
              Chromosome:
              16:9849882 (GRCh38)
              16:9943739 (GRCh37)
              Canonical SPDI:
              NC_000016.10:9849881:G:A,NC_000016.10:9849881:G:C
              Gene:
              GRIN2A (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Clinical significance:
              not-provided
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              HGVS:
              NC_000016.10:g.9849882G>A, NC_000016.10:g.9849882G>C, NC_000016.9:g.9943739G>A, NC_000016.9:g.9943739G>C, NG_011812.2:g.337873C>T, NG_011812.2:g.337873C>G, NM_000833.5:c.1202C>T, NM_000833.5:c.1202C>G, NM_000833.4:c.1202C>T, NM_000833.4:c.1202C>G, NM_000833.3:c.1202C>T, NM_000833.3:c.1202C>G, NM_001134407.3:c.1202C>T, NM_001134407.3:c.1202C>G, NM_001134407.2:c.1202C>T, NM_001134407.2:c.1202C>G, NM_001134407.1:c.1202C>T, NM_001134407.1:c.1202C>G, NM_001134408.2:c.1202C>T, NM_001134408.2:c.1202C>G, NM_001134408.1:c.1202C>T, NM_001134408.1:c.1202C>G, XM_017023172.2:c.1358C>T, XM_017023172.2:c.1358C>G, XM_017023172.1:c.1358C>T, XM_017023172.1:c.1358C>G, XM_017023173.2:c.1358C>T, XM_017023173.2:c.1358C>G, XM_017023173.1:c.1358C>T, XM_017023173.1:c.1358C>G, XM_047433993.1:c.1202C>T, XM_047433993.1:c.1202C>G, XM_047433994.1:c.1202C>T, XM_047433994.1:c.1202C>G, NP_000824.1:p.Pro401Leu, NP_000824.1:p.Pro401Arg, NP_001127879.1:p.Pro401Leu, NP_001127879.1:p.Pro401Arg, NP_001127880.1:p.Pro401Leu, NP_001127880.1:p.Pro401Arg, XP_016878661.1:p.Pro453Leu, XP_016878661.1:p.Pro453Arg, XP_016878662.1:p.Pro453Leu, XP_016878662.1:p.Pro453Arg, XP_047289949.1:p.Pro401Leu, XP_047289949.1:p.Pro401Arg, XP_047289950.1:p.Pro401Leu, XP_047289950.1:p.Pro401Arg
              14.

              rs1488438490 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                16:9754466 (GRCh38)
                16:9848323 (GRCh37)
                Canonical SPDI:
                NC_000016.10:9754465:G:A
                Gene:
                GRIN2A (Varview)
                Functional Consequence:
                3_prime_UTR_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000026/7 (TOPMED)
                A=0.00005/7 (GnomAD)
                HGVS:
                15.
                16.

                rs1488292248 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,G,T [Show Flanks]
                  Chromosome:
                  16:9755316 (GRCh38)
                  16:9849173 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:9755315:C:A,NC_000016.10:9755315:C:G,NC_000016.10:9755315:C:T
                  Gene:
                  GRIN2A (Varview)
                  Functional Consequence:
                  3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  HGVS:
                  NC_000016.10:g.9755316C>A, NC_000016.10:g.9755316C>G, NC_000016.10:g.9755316C>T, NC_000016.9:g.9849173C>A, NC_000016.9:g.9849173C>G, NC_000016.9:g.9849173C>T, NG_011812.2:g.432439G>T, NG_011812.2:g.432439G>C, NG_011812.2:g.432439G>A, NM_000833.5:c.*7833G>T, NM_000833.5:c.*7833G>C, NM_000833.5:c.*7833G>A, NM_000833.4:c.*7833G>T, NM_000833.4:c.*7833G>C, NM_000833.4:c.*7833G>A, NM_000833.3:c.*7833G>T, NM_000833.3:c.*7833G>C, NM_000833.3:c.*7833G>A, NM_001134407.3:c.*7833G>T, NM_001134407.3:c.*7833G>C, NM_001134407.3:c.*7833G>A, NM_001134407.2:c.*7833G>T, NM_001134407.2:c.*7833G>C, NM_001134407.2:c.*7833G>A, NM_001134407.1:c.*7833G>T, NM_001134407.1:c.*7833G>C, NM_001134407.1:c.*7833G>A, NM_001134408.2:c.*8039G>T, NM_001134408.2:c.*8039G>C, NM_001134408.2:c.*8039G>A, XM_017023172.2:c.*7833G>T, XM_017023172.2:c.*7833G>C, XM_017023172.2:c.*7833G>A, XM_017023172.1:c.*7833G>T, XM_017023172.1:c.*7833G>C, XM_017023172.1:c.*7833G>A, XM_017023173.2:c.*8039G>T, XM_017023173.2:c.*8039G>C, XM_017023173.2:c.*8039G>A, XM_017023173.1:c.*8039G>T, XM_017023173.1:c.*8039G>C, XM_017023173.1:c.*8039G>A, XM_047433993.1:c.*7833G>T, XM_047433993.1:c.*7833G>C, XM_047433993.1:c.*7833G>A, XM_047433994.1:c.*8039G>T, XM_047433994.1:c.*8039G>C, XM_047433994.1:c.*8039G>A
                  17.
                  18.

                  rs1487682603 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G,T [Show Flanks]
                    Chromosome:
                    16:9763825 (GRCh38)
                    16:9857682 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:9763824:A:G,NC_000016.10:9763824:A:T
                    Gene:
                    GRIN2A (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_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_000016.10:g.9763825A>G, NC_000016.10:g.9763825A>T, NC_000016.9:g.9857682A>G, NC_000016.9:g.9857682A>T, NG_011812.2:g.423930T>C, NG_011812.2:g.423930T>A, NM_000833.5:c.3719T>C, NM_000833.5:c.3719T>A, NM_000833.4:c.3719T>C, NM_000833.4:c.3719T>A, NM_000833.3:c.3719T>C, NM_000833.3:c.3719T>A, NM_001134407.3:c.3719T>C, NM_001134407.3:c.3719T>A, NM_001134407.2:c.3719T>C, NM_001134407.2:c.3719T>A, NM_001134407.1:c.3719T>C, NM_001134407.1:c.3719T>A, NM_001134408.2:c.3719T>C, NM_001134408.2:c.3719T>A, NM_001134408.1:c.3719T>C, NM_001134408.1:c.3719T>A, XM_017023172.2:c.3875T>C, XM_017023172.2:c.3875T>A, XM_017023172.1:c.3875T>C, XM_017023172.1:c.3875T>A, XM_017023173.2:c.3875T>C, XM_017023173.2:c.3875T>A, XM_017023173.1:c.3875T>C, XM_017023173.1:c.3875T>A, XM_047433993.1:c.3719T>C, XM_047433993.1:c.3719T>A, XM_047433994.1:c.3719T>C, XM_047433994.1:c.3719T>A, NP_000824.1:p.Leu1240Pro, NP_000824.1:p.Leu1240Gln, NP_001127879.1:p.Leu1240Pro, NP_001127879.1:p.Leu1240Gln, NP_001127880.1:p.Leu1240Pro, NP_001127880.1:p.Leu1240Gln, XP_016878661.1:p.Leu1292Pro, XP_016878661.1:p.Leu1292Gln, XP_016878662.1:p.Leu1292Pro, XP_016878662.1:p.Leu1292Gln, XP_047289949.1:p.Leu1240Pro, XP_047289949.1:p.Leu1240Gln, XP_047289950.1:p.Leu1240Pro, XP_047289950.1:p.Leu1240Gln

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