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Items: 1 to 20 of 162

1.

rs1490803041 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    12:55789125 (GRCh38)
    12:56182909 (GRCh37)
    Canonical SPDI:
    NC_000012.12:55789124:T:C
    Gene:
    SARNP (Varview)
    Functional Consequence:
    non_coding_transcript_variant,coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (GnomAD_exomes)
    C=0.000004/1 (TOPMED)
    C=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1489552392 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A [Show Flanks]
      Chromosome:
      12:55760624 (GRCh38)
      12:56154408 (GRCh37)
      Canonical SPDI:
      NC_000012.12:55760623:T:A
      Gene:
      SARNP (Varview)
      Functional Consequence:
      non_coding_transcript_variant,coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      A=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1486327162 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        12:55760573 (GRCh38)
        12:56154357 (GRCh37)
        Canonical SPDI:
        NC_000012.12:55760572:G:A
        Gene:
        SARNP (Varview)
        Functional Consequence:
        non_coding_transcript_variant,coding_sequence_variant,missense_variant
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        4.

        rs1480995203 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          12:55803694 (GRCh38)
          12:56197478 (GRCh37)
          Canonical SPDI:
          NC_000012.12:55803693:C:A
          Gene:
          SARNP (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,non_coding_transcript_variant
          Validated:
          by frequency
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          5.

          rs1476842893 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            12:55760587 (GRCh38)
            12:56154371 (GRCh37)
            Canonical SPDI:
            NC_000012.12:55760586:T:C
            Gene:
            SARNP (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1462990782 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              12:55760564 (GRCh38)
              12:56154348 (GRCh37)
              Canonical SPDI:
              NC_000012.12:55760563:G:A
              Gene:
              SARNP (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant,non_coding_transcript_variant
              Validated:
              by frequency
              MAF:
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              7.

              rs1462562089 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                12:55796068 (GRCh38)
                12:56189852 (GRCh37)
                Canonical SPDI:
                NC_000012.12:55796067:T:C
                Gene:
                SARNP (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                C=0.000015/4 (TOPMED)
                HGVS:
                8.

                rs1457207174 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  12:55790582 (GRCh38)
                  12:56184366 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:55790581:A:G
                  Gene:
                  SARNP (Varview)
                  Functional Consequence:
                  synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0.000028/1 (ALFA)
                  G=0.000007/1 (GnomAD)
                  G=0.000011/3 (TOPMED)
                  G=0.000015/3 (GnomAD_exomes)
                  HGVS:
                  9.

                  rs1435984623 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A [Show Flanks]
                    Chromosome:
                    12:55789116 (GRCh38)
                    12:56182900 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:55789115:C:A
                    Gene:
                    SARNP (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1435666925 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>A [Show Flanks]
                      Chromosome:
                      12:55800573 (GRCh38)
                      12:56194357 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:55800572:T:A
                      Gene:
                      SARNP (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1429730491 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        12:55760604 (GRCh38)
                        12:56154388 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:55760603:G:A
                        Gene:
                        SARNP (Varview)
                        Functional Consequence:
                        stop_gained,coding_sequence_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1421439234 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          12:55803719 (GRCh38)
                          12:56197503 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:55803718:G:A
                          Gene:
                          SARNP (Varview)
                          Functional Consequence:
                          synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                          Validated:
                          by frequency
                          MAF:
                          A=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          13.

                          rs1417465604 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A [Show Flanks]
                            Chromosome:
                            12:55760576 (GRCh38)
                            12:56154360 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:55760575:C:A
                            Gene:
                            SARNP (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant,non_coding_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            14.

                            rs1413748371 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              12:55760568 (GRCh38)
                              12:56154352 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:55760567:T:G
                              Gene:
                              SARNP (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1412906511 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                12:55796029 (GRCh38)
                                12:56189813 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:55796028:G:C
                                Gene:
                                SARNP (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1397571920 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  12:55796049 (GRCh38)
                                  12:56189833 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:55796048:A:G
                                  Gene:
                                  SARNP (Varview)
                                  Functional Consequence:
                                  synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1387093950 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    12:55803728 (GRCh38)
                                    12:56197512 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:55803727:G:A
                                    Gene:
                                    SARNP (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (GnomAD_exomes)
                                    A=0.000008/2 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1385905517 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      12:55794854 (GRCh38)
                                      12:56188638 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:55794853:G:A
                                      Gene:
                                      SARNP (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      A=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      19.

                                      rs1379349489 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,C [Show Flanks]
                                        Chromosome:
                                        12:55817697 (GRCh38)
                                        12:56211481 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:55817696:G:A,NC_000012.12:55817696:G:C
                                        Gene:
                                        ORMDL2 (Varview), SARNP (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1367411502 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          12:55794846 (GRCh38)
                                          12:56188630 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:55794845:G:A
                                          Gene:
                                          SARNP (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          HGVS:

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