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1.

rs1491554135 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CA>- [Show Flanks]
    Chromosome:
    20:43573489 (GRCh38)
    20:42202129 (GRCh37)
    Canonical SPDI:
    NC_000020.11:43573488:CA:
    Gene:
    SGK2 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0./0 (ALFA)
    HGVS:
    2.

    rs1491516029 has merged into rs11467250 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      GTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
      Chromosome:
      20:43571087 (GRCh38)
      20:42199727 (GRCh37)
      Canonical SPDI:
      NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
      Gene:
      SGK2 (Varview)
      Functional Consequence:
      intron_variant
      Clinical significance:
      benign
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      GTGTGTGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
      GTGT=0.27476/1376 (1000Genomes)
      GTGT=0.28204/1087 (ALSPAC)
      HGVS:
      NC_000020.11:g.43571065GT[11], NC_000020.11:g.43571065GT[12], NC_000020.11:g.43571065GT[13], NC_000020.11:g.43571065GT[14], NC_000020.11:g.43571065GT[15], NC_000020.11:g.43571065GT[16], NC_000020.11:g.43571065GT[17], NC_000020.11:g.43571065GT[18], NC_000020.11:g.43571065GT[20], NC_000020.11:g.43571065GT[21], NC_000020.11:g.43571065GT[22], NC_000020.11:g.43571065GT[23], NC_000020.11:g.43571065GT[24], NC_000020.11:g.43571065GT[25], NC_000020.11:g.43571065GT[26], NC_000020.11:g.43571065GT[27], NC_000020.11:g.43571065GT[28], NC_000020.11:g.43571065GT[29], NC_000020.11:g.43571065GT[30], NC_000020.10:g.42199705GT[11], NC_000020.10:g.42199705GT[12], NC_000020.10:g.42199705GT[13], NC_000020.10:g.42199705GT[14], NC_000020.10:g.42199705GT[15], NC_000020.10:g.42199705GT[16], NC_000020.10:g.42199705GT[17], NC_000020.10:g.42199705GT[18], NC_000020.10:g.42199705GT[20], NC_000020.10:g.42199705GT[21], NC_000020.10:g.42199705GT[22], NC_000020.10:g.42199705GT[23], NC_000020.10:g.42199705GT[24], NC_000020.10:g.42199705GT[25], NC_000020.10:g.42199705GT[26], NC_000020.10:g.42199705GT[27], NC_000020.10:g.42199705GT[28], NC_000020.10:g.42199705GT[29], NC_000020.10:g.42199705GT[30], NG_029448.2:g.17071GT[11], NG_029448.2:g.17071GT[12], NG_029448.2:g.17071GT[13], NG_029448.2:g.17071GT[14], NG_029448.2:g.17071GT[15], NG_029448.2:g.17071GT[16], NG_029448.2:g.17071GT[17], NG_029448.2:g.17071GT[18], NG_029448.2:g.17071GT[20], NG_029448.2:g.17071GT[21], NG_029448.2:g.17071GT[22], NG_029448.2:g.17071GT[23], NG_029448.2:g.17071GT[24], NG_029448.2:g.17071GT[25], NG_029448.2:g.17071GT[26], NG_029448.2:g.17071GT[27], NG_029448.2:g.17071GT[28], NG_029448.2:g.17071GT[29], NG_029448.2:g.17071GT[30]
      3.

      rs1491348076 has merged into rs5841510 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
        Chromosome:
        20:43561401 (GRCh38)
        20:42190041 (GRCh37)
        Canonical SPDI:
        NC_000020.11:43561386:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:43561386:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:43561386:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:43561386:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:43561386:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:43561386:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:43561386:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:43561386:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:43561386:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:43561386:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:43561386:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:43561386:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
        Gene:
        SGK2 (Varview)
        Functional Consequence:
        intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTTTTTTTTTTTT=0./0 (ALFA)
        HGVS:
        NC_000020.11:g.43561401_43561408del, NC_000020.11:g.43561402_43561408del, NC_000020.11:g.43561403_43561408del, NC_000020.11:g.43561404_43561408del, NC_000020.11:g.43561405_43561408del, NC_000020.11:g.43561406_43561408del, NC_000020.11:g.43561407_43561408del, NC_000020.11:g.43561408del, NC_000020.11:g.43561408dup, NC_000020.11:g.43561407_43561408dup, NC_000020.11:g.43561406_43561408dup, NC_000020.11:g.43561405_43561408dup, NC_000020.10:g.42190041_42190048del, NC_000020.10:g.42190042_42190048del, NC_000020.10:g.42190043_42190048del, NC_000020.10:g.42190044_42190048del, NC_000020.10:g.42190045_42190048del, NC_000020.10:g.42190046_42190048del, NC_000020.10:g.42190047_42190048del, NC_000020.10:g.42190048del, NC_000020.10:g.42190048dup, NC_000020.10:g.42190047_42190048dup, NC_000020.10:g.42190046_42190048dup, NC_000020.10:g.42190045_42190048dup, NG_029448.2:g.7407_7414del, NG_029448.2:g.7408_7414del, NG_029448.2:g.7409_7414del, NG_029448.2:g.7410_7414del, NG_029448.2:g.7411_7414del, NG_029448.2:g.7412_7414del, NG_029448.2:g.7413_7414del, NG_029448.2:g.7414del, NG_029448.2:g.7414dup, NG_029448.2:g.7413_7414dup, NG_029448.2:g.7412_7414dup, NG_029448.2:g.7411_7414dup
        4.

        rs1491276477 has merged into rs764803627 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAAAAAAAAAAAA>-,AA,AAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
          Chromosome:
          20:43580736 (GRCh38)
          20:42209376 (GRCh37)
          Canonical SPDI:
          NC_000020.11:43580727:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000020.11:43580727:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:43580727:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:43580727:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:43580727:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:43580727:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:43580727:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:43580727:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:43580727:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:43580727:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:43580727:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:43580727:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:43580727:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:43580727:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
          Gene:
          SGK2 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAAAA=0./0 (ALFA)
          HGVS:
          NC_000020.11:g.43580736_43580748del, NC_000020.11:g.43580738_43580748del, NC_000020.11:g.43580739_43580748del, NC_000020.11:g.43580743_43580748del, NC_000020.11:g.43580744_43580748del, NC_000020.11:g.43580745_43580748del, NC_000020.11:g.43580746_43580748del, NC_000020.11:g.43580747_43580748del, NC_000020.11:g.43580748del, NC_000020.11:g.43580748dup, NC_000020.11:g.43580747_43580748dup, NC_000020.11:g.43580746_43580748dup, NC_000020.11:g.43580745_43580748dup, NC_000020.11:g.43580744_43580748dup, NC_000020.10:g.42209376_42209388del, NC_000020.10:g.42209378_42209388del, NC_000020.10:g.42209379_42209388del, NC_000020.10:g.42209383_42209388del, NC_000020.10:g.42209384_42209388del, NC_000020.10:g.42209385_42209388del, NC_000020.10:g.42209386_42209388del, NC_000020.10:g.42209387_42209388del, NC_000020.10:g.42209388del, NC_000020.10:g.42209388dup, NC_000020.10:g.42209387_42209388dup, NC_000020.10:g.42209386_42209388dup, NC_000020.10:g.42209385_42209388dup, NC_000020.10:g.42209384_42209388dup, NG_029448.2:g.26742_26754del, NG_029448.2:g.26744_26754del, NG_029448.2:g.26745_26754del, NG_029448.2:g.26749_26754del, NG_029448.2:g.26750_26754del, NG_029448.2:g.26751_26754del, NG_029448.2:g.26752_26754del, NG_029448.2:g.26753_26754del, NG_029448.2:g.26754del, NG_029448.2:g.26754dup, NG_029448.2:g.26753_26754dup, NG_029448.2:g.26752_26754dup, NG_029448.2:g.26751_26754dup, NG_029448.2:g.26750_26754dup
          5.

          rs1491151091 has merged into rs11467250 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            GTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
            Chromosome:
            20:43571087 (GRCh38)
            20:42199727 (GRCh37)
            Canonical SPDI:
            NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:43571064:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
            Gene:
            SGK2 (Varview)
            Functional Consequence:
            intron_variant
            Clinical significance:
            benign
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            GTGTGTGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
            GTGT=0.27476/1376 (1000Genomes)
            GTGT=0.28204/1087 (ALSPAC)
            HGVS:
            NC_000020.11:g.43571065GT[11], NC_000020.11:g.43571065GT[12], NC_000020.11:g.43571065GT[13], NC_000020.11:g.43571065GT[14], NC_000020.11:g.43571065GT[15], NC_000020.11:g.43571065GT[16], NC_000020.11:g.43571065GT[17], NC_000020.11:g.43571065GT[18], NC_000020.11:g.43571065GT[20], NC_000020.11:g.43571065GT[21], NC_000020.11:g.43571065GT[22], NC_000020.11:g.43571065GT[23], NC_000020.11:g.43571065GT[24], NC_000020.11:g.43571065GT[25], NC_000020.11:g.43571065GT[26], NC_000020.11:g.43571065GT[27], NC_000020.11:g.43571065GT[28], NC_000020.11:g.43571065GT[29], NC_000020.11:g.43571065GT[30], NC_000020.10:g.42199705GT[11], NC_000020.10:g.42199705GT[12], NC_000020.10:g.42199705GT[13], NC_000020.10:g.42199705GT[14], NC_000020.10:g.42199705GT[15], NC_000020.10:g.42199705GT[16], NC_000020.10:g.42199705GT[17], NC_000020.10:g.42199705GT[18], NC_000020.10:g.42199705GT[20], NC_000020.10:g.42199705GT[21], NC_000020.10:g.42199705GT[22], NC_000020.10:g.42199705GT[23], NC_000020.10:g.42199705GT[24], NC_000020.10:g.42199705GT[25], NC_000020.10:g.42199705GT[26], NC_000020.10:g.42199705GT[27], NC_000020.10:g.42199705GT[28], NC_000020.10:g.42199705GT[29], NC_000020.10:g.42199705GT[30], NG_029448.2:g.17071GT[11], NG_029448.2:g.17071GT[12], NG_029448.2:g.17071GT[13], NG_029448.2:g.17071GT[14], NG_029448.2:g.17071GT[15], NG_029448.2:g.17071GT[16], NG_029448.2:g.17071GT[17], NG_029448.2:g.17071GT[18], NG_029448.2:g.17071GT[20], NG_029448.2:g.17071GT[21], NG_029448.2:g.17071GT[22], NG_029448.2:g.17071GT[23], NG_029448.2:g.17071GT[24], NG_029448.2:g.17071GT[25], NG_029448.2:g.17071GT[26], NG_029448.2:g.17071GT[27], NG_029448.2:g.17071GT[28], NG_029448.2:g.17071GT[29], NG_029448.2:g.17071GT[30]
            6.

            rs1490936661 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              20:43559875 (GRCh38)
              20:42188515 (GRCh37)
              Canonical SPDI:
              NC_000020.11:43559874:C:G
              Gene:
              SGK2 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000019/5 (TOPMED)
              G=0.000021/3 (GnomAD)
              HGVS:
              7.

              rs1490923857 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                AG>- [Show Flanks]
                Chromosome:
                20:43558858 (GRCh38)
                20:42187498 (GRCh37)
                Canonical SPDI:
                NC_000020.11:43558853:AGAGAG:AGAG
                Gene:
                SGK2 (Varview)
                Functional Consequence:
                upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                AGAG=0.000071/1 (ALFA)
                -=0.000049/13 (TOPMED)
                -=0.000086/12 (GnomAD)
                HGVS:
                8.

                rs1490756608 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  20:43558727 (GRCh38)
                  20:42187367 (GRCh37)
                  Canonical SPDI:
                  NC_000020.11:43558726:G:T
                  Gene:
                  SGK2 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  T=0.000014/2 (GnomAD)
                  HGVS:
                  9.

                  rs1490434058 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    20:43557965 (GRCh38)
                    20:42186605 (GRCh37)
                    Canonical SPDI:
                    NC_000020.11:43557964:C:T
                    Gene:
                    SGK2 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000011/3 (TOPMED)
                    T=0.000021/3 (GnomAD)
                    HGVS:
                    10.

                    rs1490220612 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,T [Show Flanks]
                      Chromosome:
                      20:43571214 (GRCh38)
                      20:42199854 (GRCh37)
                      Canonical SPDI:
                      NC_000020.11:43571213:C:A,NC_000020.11:43571213:C:T
                      Gene:
                      SGK2 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000007/1 (GnomAD)
                      T=0.000035/1 (TOMMO)
                      HGVS:
                      11.

                      rs1490091877 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        20:43579926 (GRCh38)
                        20:42208566 (GRCh37)
                        Canonical SPDI:
                        NC_000020.11:43579925:G:T
                        Gene:
                        SGK2 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1490061976 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          20:43565112 (GRCh38)
                          20:42193752 (GRCh37)
                          Canonical SPDI:
                          NC_000020.11:43565111:A:G
                          Gene:
                          SGK2 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1489902999 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A,G [Show Flanks]
                            Chromosome:
                            20:43581326 (GRCh38)
                            20:42209966 (GRCh37)
                            Canonical SPDI:
                            NC_000020.11:43581325:T:A,NC_000020.11:43581325:T:G
                            Gene:
                            SGK2 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1489900053 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              20:43565503 (GRCh38)
                              20:42194143 (GRCh37)
                              Canonical SPDI:
                              NC_000020.11:43565502:C:T
                              Gene:
                              SGK2 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1489807378 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,T [Show Flanks]
                                Chromosome:
                                20:43571977 (GRCh38)
                                20:42200617 (GRCh37)
                                Canonical SPDI:
                                NC_000020.11:43571976:G:A,NC_000020.11:43571976:G:T
                                Gene:
                                SGK2 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.00034/1 (KOREAN)
                                HGVS:
                                16.

                                rs1489720061 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>G [Show Flanks]
                                  Chromosome:
                                  20:43574912 (GRCh38)
                                  20:42203552 (GRCh37)
                                  Canonical SPDI:
                                  NC_000020.11:43574911:T:G
                                  Gene:
                                  SGK2 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (GnomAD_exomes)
                                  G=0.000007/1 (GnomAD)
                                  G=0.000015/4 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1489716597 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    20:43572577 (GRCh38)
                                    20:42201217 (GRCh37)
                                    Canonical SPDI:
                                    NC_000020.11:43572576:T:G
                                    Gene:
                                    SGK2 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0.000071/1 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1489587024 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ->ATGTGTGTGT [Show Flanks]
                                      Chromosome:
                                      20:43571083 (GRCh38)
                                      20:42199724 (GRCh37)
                                      Canonical SPDI:
                                      NC_000020.11:43571083:TGTGTGTGT:TGTGTGTGTATGTGTGTGT
                                      Gene:
                                      SGK2 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      HGVS:
                                      19.

                                      rs1489482120 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        20:43572175 (GRCh38)
                                        20:42200815 (GRCh37)
                                        Canonical SPDI:
                                        NC_000020.11:43572174:T:G
                                        Gene:
                                        SGK2 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by cluster
                                        MAF:
                                        G=0.000013/2 (GnomAD_exomes)
                                        HGVS:
                                        20.

                                        rs1489473866 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          20:43583926 (GRCh38)
                                          20:42212566 (GRCh37)
                                          Canonical SPDI:
                                          NC_000020.11:43583925:C:T
                                          Gene:
                                          SGK2 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000007/1 (GnomAD)
                                          T=0.000011/3 (TOPMED)
                                          HGVS:

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