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Items: 1 to 20 of 2560

1.

rs1491543818 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CA>- [Show Flanks]
    Chromosome:
    5:70928300 (GRCh38)
    5:70224127 (GRCh37)
    Canonical SPDI:
    NC_000005.10:70928299:CA:
    Gene:
    SMN1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0.00599/71 (ALFA)
    -=0.0011/7 (TOMMO)
    HGVS:

    2.

    rs1491438900 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      AT>- [Show Flanks]
      Chromosome:
      5:70923217 (GRCh38)
      5:70219044 (GRCh37)
      Canonical SPDI:
      NC_000005.10:70923216:AT:
      Gene:
      SMN1 (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0.00253/30 (ALFA)
      -=0.00371/21 (TOMMO)
      HGVS:

      3.

      rs1491400693 has merged into rs540123076 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TTTTTT>-,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT [Show Flanks]
        Chromosome:
        5:70920894 (GRCh38)
        5:70216721 (GRCh37)
        Canonical SPDI:
        NC_000005.10:70920886:TTTTTTTTTTTTT:TTTTTTT,NC_000005.10:70920886:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:70920886:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:70920886:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:70920886:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:70920886:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTTTTTTTT=0./0 (ALFA)
        TT=0.00559/28 (1000Genomes)
        HGVS:
        NC_000005.10:g.70920894_70920899del, NC_000005.10:g.70920898_70920899del, NC_000005.10:g.70920899del, NC_000005.10:g.70920899dup, NC_000005.10:g.70920898_70920899dup, NC_000005.10:g.70920897_70920899dup, NC_000005.9:g.70216721_70216726del, NC_000005.9:g.70216725_70216726del, NC_000005.9:g.70216726del, NC_000005.9:g.70216726dup, NC_000005.9:g.70216725_70216726dup, NC_000005.9:g.70216724_70216726dup, NG_008691.1:g.954_959del, NG_008691.1:g.958_959del, NG_008691.1:g.959del, NG_008691.1:g.959dup, NG_008691.1:g.958_959dup, NG_008691.1:g.957_959dup, NW_003315917.2:g.489896T>A, NW_003315917.2:g.489894_489899del, NW_003315917.2:g.489896_489897del, NW_003315917.2:g.489896del, NW_003315917.2:g.489896delinsAA, NW_003315917.2:g.489896delinsAAA, NW_003315917.2:g.489896delinsAAAA, NT_187651.1:g.469323A>T, NT_187651.1:g.469323_469328del, NT_187651.1:g.469323_469324del, NT_187651.1:g.469323del, NT_187651.1:g.469323delinsTT, NT_187651.1:g.469323delinsTTT, NT_187651.1:g.469323delinsTTTT, NW_025791777.1:g.1561185T>A, NW_025791777.1:g.1561183_1561188del, NW_025791777.1:g.1561185_1561186del, NW_025791777.1:g.1561185del, NW_025791777.1:g.1561185delinsAA, NW_025791777.1:g.1561185delinsAAA, NW_025791777.1:g.1561185delinsAAAA

        4.

        rs1491384263 has merged into rs1255859772 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
          Chromosome:
          5:70928323 (GRCh38)
          5:70224150 (GRCh37)
          Canonical SPDI:
          NC_000005.10:70928300:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:70928300:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:70928300:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:70928300:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:70928300:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:70928300:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:70928300:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:70928300:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:70928300:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:70928300:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
          Gene:
          SMN1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAAAAAAAAAAAAAAAAA=0./0 (ALFA)
          HGVS:
          NC_000005.10:g.70928323_70928325del, NC_000005.10:g.70928324_70928325del, NC_000005.10:g.70928325del, NC_000005.10:g.70928325dup, NC_000005.10:g.70928324_70928325dup, NC_000005.10:g.70928323_70928325dup, NC_000005.10:g.70928322_70928325dup, NC_000005.10:g.70928321_70928325dup, NC_000005.10:g.70928318_70928325dup, NC_000005.10:g.70928317_70928325dup, NC_000005.9:g.70224150_70224152del, NC_000005.9:g.70224151_70224152del, NC_000005.9:g.70224152del, NC_000005.9:g.70224152dup, NC_000005.9:g.70224151_70224152dup, NC_000005.9:g.70224150_70224152dup, NC_000005.9:g.70224149_70224152dup, NC_000005.9:g.70224148_70224152dup, NC_000005.9:g.70224145_70224152dup, NC_000005.9:g.70224144_70224152dup, NG_008691.1:g.8383_8385del, NG_008691.1:g.8384_8385del, NG_008691.1:g.8385del, NG_008691.1:g.8385dup, NG_008691.1:g.8384_8385dup, NG_008691.1:g.8383_8385dup, NG_008691.1:g.8382_8385dup, NG_008691.1:g.8381_8385dup, NG_008691.1:g.8378_8385dup, NG_008691.1:g.8377_8385dup, NW_003315917.2:g.482483_482487dup, NW_003315917.2:g.482486_482487dup, NW_003315917.2:g.482485_482487dup, NW_003315917.2:g.482484_482487dup, NW_003315917.2:g.482482_482487dup, NW_003315917.2:g.482481_482487dup, NW_003315917.2:g.482480_482487dup, NW_003315917.2:g.482479_482487dup, NW_003315917.2:g.482478_482487dup, NW_003315917.2:g.482475_482487dup, NW_003315917.2:g.482474_482487dup, NT_187651.1:g.476750_476754dup, NT_187651.1:g.476753_476754dup, NT_187651.1:g.476752_476754dup, NT_187651.1:g.476751_476754dup, NT_187651.1:g.476749_476754dup, NT_187651.1:g.476748_476754dup, NT_187651.1:g.476747_476754dup, NT_187651.1:g.476746_476754dup, NT_187651.1:g.476745_476754dup, NT_187651.1:g.476742_476754dup, NT_187651.1:g.476741_476754dup, NW_025791777.1:g.1553768_1553772dup, NW_025791777.1:g.1553771_1553772dup, NW_025791777.1:g.1553770_1553772dup, NW_025791777.1:g.1553769_1553772dup, NW_025791777.1:g.1553767_1553772dup, NW_025791777.1:g.1553766_1553772dup, NW_025791777.1:g.1553765_1553772dup, NW_025791777.1:g.1553764_1553772dup, NW_025791777.1:g.1553763_1553772dup, NW_025791777.1:g.1553760_1553772dup, NW_025791777.1:g.1553759_1553772dup

          5.

          rs1491382702 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->GCAC [Show Flanks]
            Chromosome:
            5:70924611 (GRCh38)
            5:70220439 (GRCh37)
            Canonical SPDI:
            NC_000005.10:70924611:CAC:CACGCAC
            Gene:
            SMN1 (Varview)
            Functional Consequence:
            upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa
            MAF:
            CACGCAC=0./0 (ALFA)
            CACG=0.00163/5 (GnomAD)
            HGVS:

            6.

            rs1491178413 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->ATT [Show Flanks]
              Chromosome:
              5:70920887 (GRCh38)
              5:70216715 (GRCh37)
              Canonical SPDI:
              NC_000005.10:70920887:TT:TTATT
              Validated:
              by frequency,by alfa
              MAF:
              TTATT=0./0 (ALFA)
              HGVS:

              7.

              rs1491158704 has merged into rs371229060 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ACACACACACACACACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACAC [Show Flanks]
                Chromosome:
                5:70924625 (GRCh38)
                5:70220452 (GRCh37)
                Canonical SPDI:
                NC_000005.10:70924610:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACAC,NC_000005.10:70924610:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACAC,NC_000005.10:70924610:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACAC,NC_000005.10:70924610:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000005.10:70924610:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000005.10:70924610:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000005.10:70924610:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000005.10:70924610:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000005.10:70924610:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000005.10:70924610:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000005.10:70924610:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000005.10:70924610:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000005.10:70924610:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:70924610:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:70924610:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:70924610:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:70924610:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:70924610:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:70924610:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:70924610:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:70924610:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:70924610:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:70924610:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
                Gene:
                SMN1 (Varview)
                Functional Consequence:
                upstream_transcript_variant,2KB_upstream_variant
                Clinical significance:
                benign
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                ACACACACACACACAC=0./0 (ALFA)
                HGVS:
                NC_000005.10:g.70924611AC[7], NC_000005.10:g.70924611AC[8], NC_000005.10:g.70924611AC[9], NC_000005.10:g.70924611AC[10], NC_000005.10:g.70924611AC[11], NC_000005.10:g.70924611AC[12], NC_000005.10:g.70924611AC[13], NC_000005.10:g.70924611AC[14], NC_000005.10:g.70924611AC[16], NC_000005.10:g.70924611AC[17], NC_000005.10:g.70924611AC[18], NC_000005.10:g.70924611AC[19], NC_000005.10:g.70924611AC[21], NC_000005.10:g.70924611AC[22], NC_000005.10:g.70924611AC[23], NC_000005.10:g.70924611AC[24], NC_000005.10:g.70924611AC[25], NC_000005.10:g.70924611AC[26], NC_000005.10:g.70924611AC[27], NC_000005.10:g.70924611AC[28], NC_000005.10:g.70924611AC[29], NC_000005.10:g.70924611AC[30], NC_000005.10:g.70924611AC[31], NC_000005.9:g.70220438AC[7], NC_000005.9:g.70220438AC[8], NC_000005.9:g.70220438AC[9], NC_000005.9:g.70220438AC[10], NC_000005.9:g.70220438AC[11], NC_000005.9:g.70220438AC[12], NC_000005.9:g.70220438AC[13], NC_000005.9:g.70220438AC[14], NC_000005.9:g.70220438AC[16], NC_000005.9:g.70220438AC[17], NC_000005.9:g.70220438AC[18], NC_000005.9:g.70220438AC[19], NC_000005.9:g.70220438AC[21], NC_000005.9:g.70220438AC[22], NC_000005.9:g.70220438AC[23], NC_000005.9:g.70220438AC[24], NC_000005.9:g.70220438AC[25], NC_000005.9:g.70220438AC[26], NC_000005.9:g.70220438AC[27], NC_000005.9:g.70220438AC[28], NC_000005.9:g.70220438AC[29], NC_000005.9:g.70220438AC[30], NC_000005.9:g.70220438AC[31], NG_008691.1:g.4671AC[7], NG_008691.1:g.4671AC[8], NG_008691.1:g.4671AC[9], NG_008691.1:g.4671AC[10], NG_008691.1:g.4671AC[11], NG_008691.1:g.4671AC[12], NG_008691.1:g.4671AC[13], NG_008691.1:g.4671AC[14], NG_008691.1:g.4671AC[16], NG_008691.1:g.4671AC[17], NG_008691.1:g.4671AC[18], NG_008691.1:g.4671AC[19], NG_008691.1:g.4671AC[21], NG_008691.1:g.4671AC[22], NG_008691.1:g.4671AC[23], NG_008691.1:g.4671AC[24], NG_008691.1:g.4671AC[25], NG_008691.1:g.4671AC[26], NG_008691.1:g.4671AC[27], NG_008691.1:g.4671AC[28], NG_008691.1:g.4671AC[29], NG_008691.1:g.4671AC[30], NG_008691.1:g.4671AC[31], NW_003315917.2:g.486137GT[10], NW_003315917.2:g.486137GT[11], NW_003315917.2:g.486137GT[12], NW_003315917.2:g.486137GT[13], NW_003315917.2:g.486137GT[14], NW_003315917.2:g.486137GT[15], NW_003315917.2:g.486137GT[16], NW_003315917.2:g.486137GT[17], NW_003315917.2:g.486137GT[19], NW_003315917.2:g.486137GT[20], NW_003315917.2:g.486137GT[21], NW_003315917.2:g.486137GT[22], NW_003315917.2:g.486137GT[24], NW_003315917.2:g.486137GT[25], NW_003315917.2:g.486137GT[26], NW_003315917.2:g.486137GT[27], NW_003315917.2:g.486137GT[28], NW_003315917.2:g.486137GT[29], NW_003315917.2:g.486137GT[30], NW_003315917.2:g.486137GT[31], NW_003315917.2:g.486137GT[32], NW_003315917.2:g.486137GT[33], NW_003315917.2:g.486137GT[34], NT_187651.1:g.473037AC[11], NT_187651.1:g.473037AC[12], NT_187651.1:g.473037AC[13], NT_187651.1:g.473037AC[14], NT_187651.1:g.473037AC[15], NT_187651.1:g.473037AC[16], NT_187651.1:g.473037AC[17], NT_187651.1:g.473037AC[18], NT_187651.1:g.473037AC[20], NT_187651.1:g.473037AC[21], NT_187651.1:g.473037AC[22], NT_187651.1:g.473037AC[23], NT_187651.1:g.473037AC[25], NT_187651.1:g.473037AC[26], NT_187651.1:g.473037AC[27], NT_187651.1:g.473037AC[28], NT_187651.1:g.473037AC[29], NT_187651.1:g.473037AC[30], NT_187651.1:g.473037AC[31], NT_187651.1:g.473037AC[32], NT_187651.1:g.473037AC[33], NT_187651.1:g.473037AC[34], NT_187651.1:g.473037AC[35], NW_025791777.1:g.1557423GT[11], NW_025791777.1:g.1557423GT[12], NW_025791777.1:g.1557423GT[13], NW_025791777.1:g.1557423GT[14], NW_025791777.1:g.1557423GT[15], NW_025791777.1:g.1557423GT[16], NW_025791777.1:g.1557423GT[17], NW_025791777.1:g.1557423GT[18], NW_025791777.1:g.1557423GT[20], NW_025791777.1:g.1557423GT[21], NW_025791777.1:g.1557423GT[22], NW_025791777.1:g.1557423GT[23], NW_025791777.1:g.1557423GT[25], NW_025791777.1:g.1557423GT[26], NW_025791777.1:g.1557423GT[27], NW_025791777.1:g.1557423GT[28], NW_025791777.1:g.1557423GT[29], NW_025791777.1:g.1557423GT[30], NW_025791777.1:g.1557423GT[31], NW_025791777.1:g.1557423GT[32], NW_025791777.1:g.1557423GT[33], NW_025791777.1:g.1557423GT[34], NW_025791777.1:g.1557423GT[35]

                8.

                rs1491109115 has merged into rs1181154859 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  TTTTTT>-,TTT,TTTTT,TTTTTTT [Show Flanks]
                  Chromosome:
                  5:70923223 (GRCh38)
                  5:70219050 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:70923217:TTTTTTTTTTT:TTTTT,NC_000005.10:70923217:TTTTTTTTTTT:TTTTTTTT,NC_000005.10:70923217:TTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:70923217:TTTTTTTTTTT:TTTTTTTTTTTT
                  Gene:
                  SMN1 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TTTTTTTT=0./0 (ALFA)
                  HGVS:

                  9.

                  rs1490818712 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    5:70951616 (GRCh38)
                    5:70247443 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:70951615:A:G
                    Gene:
                    SMN1 (Varview)
                    Functional Consequence:
                    intron_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000007/1 (GnomAD)
                    HGVS:

                    10.

                    rs1490720171 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      T>- [Show Flanks]
                      Chromosome:
                      5:70951023 (GRCh38)
                      5:70246850 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:70951022:TT:T
                      Gene:
                      SMN1 (Varview)
                      Functional Consequence:
                      intron_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      TT=0./0 (ALFA)
                      HGVS:

                      11.

                      rs1490711434 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        5:70954975 (GRCh38)
                        5:70250802 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:70954974:G:A
                        Gene:
                        SMN1 (Varview)
                        Functional Consequence:
                        intron_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0.000843/10 (ALFA)
                        A=0.000047/5 (GnomAD)
                        HGVS:

                        12.

                        rs1490537518 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          5:70950781 (GRCh38)
                          5:70246608 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:70950780:G:A
                          Gene:
                          SMN1 (Varview)
                          Functional Consequence:
                          intron_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000011/3 (TOPMED)
                          HGVS:

                          13.

                          rs1490399921 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            5:70921587 (GRCh38)
                            5:70217414 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:70921586:G:A
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.00002/2 (GnomAD)
                            HGVS:

                            14.

                            rs1490283815 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              5:70952557 (GRCh38)
                              5:70248384 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:70952556:G:A
                              Gene:
                              SMN1 (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000037/4 (GnomAD)
                              HGVS:

                              15.

                              rs1490157914 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                TCA>- [Show Flanks]
                                Chromosome:
                                5:70928299 (GRCh38)
                                5:70224126 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:70928298:TCA:
                                Gene:
                                SMN1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                -=0./0 (ALFA)
                                HGVS:

                                16.

                                rs1489980659 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A [Show Flanks]
                                  Chromosome:
                                  5:70923794 (GRCh38)
                                  5:70219621 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:70923793:T:A
                                  Gene:
                                  SMN1 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  HGVS:

                                  17.

                                  rs1489425922 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    5:70955008 (GRCh38)
                                    5:70250835 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:70955007:T:C
                                    Gene:
                                    SMN1 (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    C=0.000008/1 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1489321683 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      5:70950093 (GRCh38)
                                      5:70245920 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:70950092:C:T
                                      Gene:
                                      SMN1 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0.000084/1 (ALFA)
                                      T=0.00006/8 (GnomAD)
                                      T=0.000156/1 (1000Genomes)
                                      HGVS:

                                      19.

                                      rs1489283168 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        5:70948249 (GRCh38)
                                        5:70244076 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:70948248:T:G
                                        Gene:
                                        SMN1 (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1489170323 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          5:70921609 (GRCh38)
                                          5:70217436 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:70921608:G:A
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.00001/1 (GnomAD)
                                          HGVS:

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