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Items: 1 to 20 of 772

1.

rs1489893812 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,T [Show Flanks]
    Chromosome:
    11:127000668 (GRCh38)
    11:126870564 (GRCh37)
    Canonical SPDI:
    NC_000011.10:127000667:C:A,NC_000011.10:127000667:C:T
    Gene:
    KIRREL3 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    A=0.000014/2 (GnomAD)
    HGVS:

    2.

    rs1489567467 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      11:126445066 (GRCh38)
      11:126314961 (GRCh37)
      Canonical SPDI:
      NC_000011.10:126445065:G:A
      Gene:
      KIRREL3 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000021/3 (GnomAD)
      A=0.000064/17 (TOPMED)
      HGVS:
      NC_000011.10:g.126445066G>A, NC_000011.9:g.126314961G>A, NG_012971.2:g.560804C>T, NG_012971.1:g.560806C>T, NM_032531.4:c.1165C>T, NM_032531.3:c.1165C>T, NM_001301097.1:c.1165C>T, NM_001161707.1:c.1165C>T, NG_053025.1:g.94422G>A, XM_011543030.4:c.1183C>T, XM_011543030.3:c.1183C>T, XM_011543030.2:c.1183C>T, XM_011543030.1:c.1183C>T, XM_011543032.4:c.1183C>T, XM_011543032.3:c.1183C>T, XM_011543032.2:c.1183C>T, XM_011543032.1:c.1183C>T, XM_011543027.3:c.1165C>T, XM_011543027.2:c.1165C>T, XM_011543027.1:c.1165C>T, XM_011543026.3:c.1183C>T, XM_011543026.2:c.1183C>T, XM_011543026.1:c.1183C>T, XM_017018419.2:c.1165C>T, XM_017018419.1:c.1165C>T, XM_047427715.1:c.598C>T, NP_115920.1:p.Arg389Cys, NP_001288026.1:p.Arg389Cys, NP_001155179.1:p.Arg389Cys, XP_011541332.1:p.Arg395Cys, XP_011541334.1:p.Arg395Cys, XP_011541329.1:p.Arg389Cys, XP_011541328.1:p.Arg395Cys, XP_016873908.1:p.Arg389Cys, XP_047283671.1:p.Arg200Cys

      3.

      rs1489192914 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A,T [Show Flanks]
        Chromosome:
        11:126440461 (GRCh38)
        11:126310356 (GRCh37)
        Canonical SPDI:
        NC_000011.10:126440460:C:A,NC_000011.10:126440460:C:T
        Gene:
        KIRREL3 (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000007/1 (GnomAD)
        HGVS:
        NC_000011.10:g.126440461C>A, NC_000011.10:g.126440461C>T, NC_000011.9:g.126310356C>A, NC_000011.9:g.126310356C>T, NG_012971.2:g.565409G>T, NG_012971.2:g.565409G>A, NG_012971.1:g.565411G>T, NG_012971.1:g.565411G>A, NM_032531.4:c.1341G>T, NM_032531.4:c.1341G>A, NM_032531.3:c.1341G>T, NM_032531.3:c.1341G>A, NM_001301097.1:c.1341G>T, NM_001301097.1:c.1341G>A, NM_001161707.1:c.1341G>T, NM_001161707.1:c.1341G>A, NG_053025.1:g.89817C>A, NG_053025.1:g.89817C>T, XM_011543030.4:c.1359G>T, XM_011543030.4:c.1359G>A, XM_011543030.3:c.1359G>T, XM_011543030.3:c.1359G>A, XM_011543030.2:c.1359G>T, XM_011543030.2:c.1359G>A, XM_011543030.1:c.1359G>T, XM_011543030.1:c.1359G>A, XM_011543032.4:c.1359G>T, XM_011543032.4:c.1359G>A, XM_011543032.3:c.1359G>T, XM_011543032.3:c.1359G>A, XM_011543032.2:c.1359G>T, XM_011543032.2:c.1359G>A, XM_011543032.1:c.1359G>T, XM_011543032.1:c.1359G>A, XM_011543027.3:c.1341G>T, XM_011543027.3:c.1341G>A, XM_011543027.2:c.1341G>T, XM_011543027.2:c.1341G>A, XM_011543027.1:c.1341G>T, XM_011543027.1:c.1341G>A, XM_011543026.3:c.1359G>T, XM_011543026.3:c.1359G>A, XM_011543026.2:c.1359G>T, XM_011543026.2:c.1359G>A, XM_011543026.1:c.1359G>T, XM_011543026.1:c.1359G>A, XM_017018419.2:c.1341G>T, XM_017018419.2:c.1341G>A, XM_017018419.1:c.1341G>T, XM_017018419.1:c.1341G>A, XM_047427715.1:c.774G>T, XM_047427715.1:c.774G>A

        4.

        rs1486830593 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          11:126445084 (GRCh38)
          11:126314979 (GRCh37)
          Canonical SPDI:
          NC_000011.10:126445083:G:A
          Gene:
          KIRREL3 (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant
          Validated:
          by frequency
          MAF:
          A=0.000008/2 (GnomAD_exomes)
          HGVS:

          5.

          rs1486276481 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            11:126463209 (GRCh38)
            11:126333104 (GRCh37)
            Canonical SPDI:
            NC_000011.10:126463208:G:A
            Gene:
            KIRREL3 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            Validated:
            by frequency
            MAF:
            A=0.000004/1 (GnomAD_exomes)
            HGVS:

            6.

            rs1485830590 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,C [Show Flanks]
              Chromosome:
              11:126456413 (GRCh38)
              11:126326308 (GRCh37)
              Canonical SPDI:
              NC_000011.10:126456412:G:A,NC_000011.10:126456412:G:C
              Gene:
              KIRREL3 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant,synonymous_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0.000028/1 (ALFA)
              C=0.000004/1 (TOPMED)
              C=0.000005/1 (GnomAD_exomes)
              C=0.000008/1 (GnomAD)
              HGVS:
              NC_000011.10:g.126456413G>A, NC_000011.10:g.126456413G>C, NC_000011.9:g.126326308G>A, NC_000011.9:g.126326308G>C, NG_012971.2:g.549457C>T, NG_012971.2:g.549457C>G, NG_012971.1:g.549459C>T, NG_012971.1:g.549459C>G, NM_032531.4:c.784C>T, NM_032531.4:c.784C>G, NM_032531.3:c.784C>T, NM_032531.3:c.784C>G, NM_001301097.1:c.784C>T, NM_001301097.1:c.784C>G, NM_001161707.1:c.784C>T, NM_001161707.1:c.784C>G, NG_053025.1:g.105769G>A, NG_053025.1:g.105769G>C, XM_011543030.4:c.802C>T, XM_011543030.4:c.802C>G, XM_011543030.3:c.802C>T, XM_011543030.3:c.802C>G, XM_011543030.2:c.802C>T, XM_011543030.2:c.802C>G, XM_011543030.1:c.802C>T, XM_011543030.1:c.802C>G, XM_011543032.4:c.802C>T, XM_011543032.4:c.802C>G, XM_011543032.3:c.802C>T, XM_011543032.3:c.802C>G, XM_011543032.2:c.802C>T, XM_011543032.2:c.802C>G, XM_011543032.1:c.802C>T, XM_011543032.1:c.802C>G, XM_011543027.3:c.784C>T, XM_011543027.3:c.784C>G, XM_011543027.2:c.784C>T, XM_011543027.2:c.784C>G, XM_011543027.1:c.784C>T, XM_011543027.1:c.784C>G, XM_011543026.3:c.802C>T, XM_011543026.3:c.802C>G, XM_011543026.2:c.802C>T, XM_011543026.2:c.802C>G, XM_011543026.1:c.802C>T, XM_011543026.1:c.802C>G, XM_017018419.2:c.784C>T, XM_017018419.2:c.784C>G, XM_017018419.1:c.784C>T, XM_017018419.1:c.784C>G, XM_047427715.1:c.217C>T, XM_047427715.1:c.217C>G, NP_115920.1:p.Leu262Val, NP_001288026.1:p.Leu262Val, NP_001155179.1:p.Leu262Val, XP_011541332.1:p.Leu268Val, XP_011541334.1:p.Leu268Val, XP_011541329.1:p.Leu262Val, XP_011541328.1:p.Leu268Val, XP_016873908.1:p.Leu262Val, XP_047283671.1:p.Leu73Val

              7.

              rs1485698805 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                11:126521330 (GRCh38)
                11:126391225 (GRCh37)
                Canonical SPDI:
                NC_000011.10:126521329:G:A
                Gene:
                KIRREL3 (Varview)
                Functional Consequence:
                missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000014/2 (GnomAD)
                HGVS:
                NC_000011.10:g.126521330G>A, NC_000011.9:g.126391225G>A, NG_012971.2:g.484540C>T, NG_012971.1:g.484542C>T, NM_032531.4:c.418C>T, NM_032531.3:c.418C>T, NM_001301097.1:c.418C>T, NM_001161707.1:c.418C>T, XM_011543030.4:c.436C>T, XM_011543030.3:c.436C>T, XM_011543030.2:c.436C>T, XM_011543030.1:c.436C>T, XM_011543032.4:c.436C>T, XM_011543032.3:c.436C>T, XM_011543032.2:c.436C>T, XM_011543032.1:c.436C>T, XM_011543027.3:c.418C>T, XM_011543027.2:c.418C>T, XM_011543027.1:c.418C>T, XM_011543026.3:c.436C>T, XM_011543026.2:c.436C>T, XM_011543026.1:c.436C>T, XM_017018419.2:c.418C>T, XM_017018419.1:c.418C>T, NP_115920.1:p.Arg140Cys, NP_001288026.1:p.Arg140Cys, NP_001155179.1:p.Arg140Cys, XP_011541332.1:p.Arg146Cys, XP_011541334.1:p.Arg146Cys, XP_011541329.1:p.Arg140Cys, XP_011541328.1:p.Arg146Cys, XP_016873908.1:p.Arg140Cys

                8.

                rs1482443589 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  11:127000578 (GRCh38)
                  11:126870474 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:127000577:C:G
                  Gene:
                  KIRREL3 (Varview)
                  Functional Consequence:
                  5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000007/1 (GnomAD)
                  G=0.000008/2 (TOPMED)
                  HGVS:

                  9.

                  rs1481922612 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    11:126431064 (GRCh38)
                    11:126300959 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:126431063:T:C
                    Gene:
                    KIRREL3 (Varview)
                    Functional Consequence:
                    intron_variant,3_prime_UTR_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    HGVS:

                    10.

                    rs1479935392 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,T [Show Flanks]
                      Chromosome:
                      11:126431193 (GRCh38)
                      11:126301088 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:126431192:G:A,NC_000011.10:126431192:G:T
                      Gene:
                      KIRREL3 (Varview)
                      Functional Consequence:
                      intron_variant,3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      HGVS:

                      11.

                      rs1479062612 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        11:126562836 (GRCh38)
                        11:126432731 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:126562835:T:G
                        Gene:
                        KIRREL3 (Varview), KIRREL3-AS1 (Varview)
                        Functional Consequence:
                        intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0./0 (GnomAD)
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000011.10:g.126562836T>G, NC_000011.9:g.126432731T>G, NG_012971.2:g.443034A>C, NG_012971.1:g.443036A>C, NM_032531.4:c.132A>C, NM_032531.3:c.132A>C, NM_001301097.1:c.132A>C, NM_001161707.1:c.132A>C, XM_011543030.4:c.150A>C, XM_011543030.3:c.150A>C, XM_011543030.2:c.150A>C, XM_011543030.1:c.150A>C, XM_011543032.4:c.150A>C, XM_011543032.3:c.150A>C, XM_011543032.2:c.150A>C, XM_011543032.1:c.150A>C, XM_011543027.3:c.132A>C, XM_011543027.2:c.132A>C, XM_011543027.1:c.132A>C, XM_011543026.3:c.150A>C, XM_011543026.2:c.150A>C, XM_011543026.1:c.150A>C, XM_017018419.2:c.132A>C, XM_017018419.1:c.132A>C, NP_115920.1:p.Glu44Asp, NP_001288026.1:p.Glu44Asp, NP_001155179.1:p.Glu44Asp, XP_011541332.1:p.Glu50Asp, XP_011541334.1:p.Glu50Asp, XP_011541329.1:p.Glu44Asp, XP_011541328.1:p.Glu50Asp, XP_016873908.1:p.Glu44Asp

                        12.

                        rs1477574164 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          11:127000550 (GRCh38)
                          11:126870446 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:127000549:T:C
                          Gene:
                          KIRREL3 (Varview)
                          Functional Consequence:
                          5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000008/2 (TOPMED)
                          HGVS:

                          13.

                          rs1477498026 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            11:126526671 (GRCh38)
                            11:126396566 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:126526670:G:A
                            Gene:
                            KIRREL3 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
                            HGVS:

                            14.

                            rs1475581550 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C [Show Flanks]
                              Chromosome:
                              11:127000705 (GRCh38)
                              11:126870601 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:127000704:G:C
                              Gene:
                              KIRREL3 (Varview)
                              Functional Consequence:
                              5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0.000224/1 (ALFA)
                              C=0.000007/1 (GnomAD)
                              C=0.000223/1 (Estonian)
                              HGVS:

                              15.

                              rs1475257959 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                11:126446789 (GRCh38)
                                11:126316684 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:126446788:G:A
                                Gene:
                                KIRREL3 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                HGVS:

                                16.

                                rs1473256132 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G,T [Show Flanks]
                                  Chromosome:
                                  11:126463230 (GRCh38)
                                  11:126333125 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:126463229:C:G,NC_000011.10:126463229:C:T
                                  Gene:
                                  KIRREL3 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant,synonymous_variant
                                  Clinical significance:
                                  uncertain-significance
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000008/2 (TOPMED)
                                  G=0.000035/1 (TOMMO)
                                  HGVS:
                                  NC_000011.10:g.126463230C>G, NC_000011.10:g.126463230C>T, NC_000011.9:g.126333125C>G, NC_000011.9:g.126333125C>T, NG_012971.2:g.542640G>C, NG_012971.2:g.542640G>A, NG_012971.1:g.542642G>C, NG_012971.1:g.542642G>A, NM_032531.4:c.669G>C, NM_032531.4:c.669G>A, NM_032531.3:c.669G>C, NM_032531.3:c.669G>A, NM_001301097.1:c.669G>C, NM_001301097.1:c.669G>A, NM_001161707.1:c.669G>C, NM_001161707.1:c.669G>A, XM_011543030.4:c.687G>C, XM_011543030.4:c.687G>A, XM_011543030.3:c.687G>C, XM_011543030.3:c.687G>A, XM_011543030.2:c.687G>C, XM_011543030.2:c.687G>A, XM_011543030.1:c.687G>C, XM_011543030.1:c.687G>A, XM_011543032.4:c.687G>C, XM_011543032.4:c.687G>A, XM_011543032.3:c.687G>C, XM_011543032.3:c.687G>A, XM_011543032.2:c.687G>C, XM_011543032.2:c.687G>A, XM_011543032.1:c.687G>C, XM_011543032.1:c.687G>A, XM_011543027.3:c.669G>C, XM_011543027.3:c.669G>A, XM_011543027.2:c.669G>C, XM_011543027.2:c.669G>A, XM_011543027.1:c.669G>C, XM_011543027.1:c.669G>A, XM_011543026.3:c.687G>C, XM_011543026.3:c.687G>A, XM_011543026.2:c.687G>C, XM_011543026.2:c.687G>A, XM_011543026.1:c.687G>C, XM_011543026.1:c.687G>A, XM_017018419.2:c.669G>C, XM_017018419.2:c.669G>A, XM_017018419.1:c.669G>C, XM_017018419.1:c.669G>A, XM_047427715.1:c.102G>C, XM_047427715.1:c.102G>A, NP_115920.1:p.Gln223His, NP_001288026.1:p.Gln223His, NP_001155179.1:p.Gln223His, XP_011541332.1:p.Gln229His, XP_011541334.1:p.Gln229His, XP_011541329.1:p.Gln223His, XP_011541328.1:p.Gln229His, XP_016873908.1:p.Gln223His, XP_047283671.1:p.Gln34His

                                  17.

                                  rs1473086511 has merged into rs753746325 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    G>-,GG [Show Flanks]
                                    Chromosome:
                                    11:126440542 (GRCh38)
                                    11:126310437 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:126440541:GGGGGG:GGGGG,NC_000011.10:126440541:GGGGGG:GGGGGGG
                                    Gene:
                                    KIRREL3 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,frameshift_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    GGGGG=0.000043/1 (ALFA)
                                    -=0.000005/1 (GnomAD_exomes)
                                    -=0.000007/1 (GnomAD)
                                    -=0.000008/2 (TOPMED)
                                    -=0.000022/1 (ExAC)
                                    HGVS:
                                    NC_000011.10:g.126440547del, NC_000011.10:g.126440547dup, NC_000011.9:g.126310442del, NC_000011.9:g.126310442dup, NG_012971.2:g.565328del, NG_012971.2:g.565328dup, NG_012971.1:g.565330del, NG_012971.1:g.565330dup, NM_032531.4:c.1260del, NM_032531.4:c.1260dup, NM_032531.3:c.1260del, NM_032531.3:c.1260dup, NM_001301097.1:c.1260del, NM_001301097.1:c.1260dup, NM_001161707.1:c.1260del, NM_001161707.1:c.1260dup, NG_053025.1:g.89903del, NG_053025.1:g.89903dup, XM_011543030.4:c.1278del, XM_011543030.4:c.1278dup, XM_011543030.3:c.1278del, XM_011543030.3:c.1278dup, XM_011543030.2:c.1278del, XM_011543030.2:c.1278dup, XM_011543030.1:c.1278del, XM_011543030.1:c.1278dup, XM_011543032.4:c.1278del, XM_011543032.4:c.1278dup, XM_011543032.3:c.1278del, XM_011543032.3:c.1278dup, XM_011543032.2:c.1278del, XM_011543032.2:c.1278dup, XM_011543032.1:c.1278del, XM_011543032.1:c.1278dup, XM_011543027.3:c.1260del, XM_011543027.3:c.1260dup, XM_011543027.2:c.1260del, XM_011543027.2:c.1260dup, XM_011543027.1:c.1260del, XM_011543027.1:c.1260dup, XM_011543026.3:c.1278del, XM_011543026.3:c.1278dup, XM_011543026.2:c.1278del, XM_011543026.2:c.1278dup, XM_011543026.1:c.1278del, XM_011543026.1:c.1278dup, XM_017018419.2:c.1260del, XM_017018419.2:c.1260dup, XM_017018419.1:c.1260del, XM_017018419.1:c.1260dup, XM_047427715.1:c.693del, XM_047427715.1:c.693dup, NP_115920.1:p.Ile421fs, NP_115920.1:p.Ile421fs, NP_001288026.1:p.Ile421fs, NP_001288026.1:p.Ile421fs, NP_001155179.1:p.Ile421fs, NP_001155179.1:p.Ile421fs, XP_011541332.1:p.Ile427fs, XP_011541332.1:p.Ile427fs, XP_011541334.1:p.Ile427fs, XP_011541334.1:p.Ile427fs, XP_011541329.1:p.Ile421fs, XP_011541329.1:p.Ile421fs, XP_011541328.1:p.Ile427fs, XP_011541328.1:p.Ile427fs, XP_016873908.1:p.Ile421fs, XP_016873908.1:p.Ile421fs, XP_047283671.1:p.Ile232fs, XP_047283671.1:p.Ile232fs

                                    18.

                                    rs1471379357 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      11:126431262 (GRCh38)
                                      11:126301157 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:126431261:A:G
                                      Gene:
                                      KIRREL3 (Varview)
                                      Functional Consequence:
                                      intron_variant,3_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      HGVS:

                                      19.

                                      rs1468180534 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C [Show Flanks]
                                        Chromosome:
                                        11:126430966 (GRCh38)
                                        11:126300861 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:126430965:A:C
                                        Gene:
                                        KIRREL3 (Varview)
                                        Functional Consequence:
                                        intron_variant,3_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000011/3 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1467502757 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          11:126526682 (GRCh38)
                                          11:126396577 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:126526681:C:G
                                          Gene:
                                          KIRREL3 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000006/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000011.10:g.126526682C>G, NC_000011.9:g.126396577C>G, NG_012971.2:g.479188G>C, NG_012971.1:g.479190G>C, NM_032531.4:c.139G>C, NM_032531.3:c.139G>C, NM_001301097.1:c.139G>C, NM_001161707.1:c.139G>C, XM_011543030.4:c.157G>C, XM_011543030.3:c.157G>C, XM_011543030.2:c.157G>C, XM_011543030.1:c.157G>C, XM_011543032.4:c.157G>C, XM_011543032.3:c.157G>C, XM_011543032.2:c.157G>C, XM_011543032.1:c.157G>C, XM_011543027.3:c.139G>C, XM_011543027.2:c.139G>C, XM_011543027.1:c.139G>C, XM_011543026.3:c.157G>C, XM_011543026.2:c.157G>C, XM_011543026.1:c.157G>C, XM_017018419.2:c.139G>C, XM_017018419.1:c.139G>C, NP_115920.1:p.Val47Leu, NP_001288026.1:p.Val47Leu, NP_001155179.1:p.Val47Leu, XP_011541332.1:p.Val53Leu, XP_011541334.1:p.Val53Leu, XP_011541329.1:p.Val47Leu, XP_011541328.1:p.Val53Leu, XP_016873908.1:p.Val47Leu

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