ClinVar Miner

List of variants in gene SKI studied for Cardiovascular phenotype

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Total variants: 71
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HGVS dbSNP
NM_003036.4(SKI):c.1033G>A (p.Ala345Thr) rs150934009
NM_003036.4(SKI):c.1152C>T (p.Pro384=) rs200160702
NM_003036.4(SKI):c.1163C>T (p.Ala388Val) rs75280988
NM_003036.4(SKI):c.1196C>T (p.Ala399Val) rs141862996
NM_003036.4(SKI):c.1258G>A (p.Ala420Thr) rs771862077
NM_003036.4(SKI):c.1263C>G (p.Leu421=) rs773045410
NM_003036.4(SKI):c.1263C>T (p.Leu421=) rs773045410
NM_003036.4(SKI):c.1264G>A (p.Ala422Thr) rs760579911
NM_003036.4(SKI):c.1302G>A (p.Pro434=) rs111459205
NM_003036.4(SKI):c.1309G>A (p.Ala437Thr) rs544709718
NM_003036.4(SKI):c.1311C>T (p.Ala437=) rs140889128
NM_003036.4(SKI):c.1338C>T (p.Leu446=) rs148632347
NM_003036.4(SKI):c.1384C>G (p.Pro462Ala) rs199797772
NM_003036.4(SKI):c.1410C>T (p.Pro470=) rs150985728
NM_003036.4(SKI):c.1426G>A (p.Glu476Lys) rs1553200926
NM_003036.4(SKI):c.1446G>A (p.Ala482=) rs114345135
NM_003036.4(SKI):c.1474+1G>A rs112549942
NM_003036.4(SKI):c.147G>A (p.Lys49=) rs1043627749
NM_003036.4(SKI):c.1480T>A (p.Ser494Thr) rs781304969
NM_003036.4(SKI):c.1527C>T (p.Ser509=) rs111935632
NM_003036.4(SKI):c.1548G>A (p.Pro516=) rs1239990628
NM_003036.4(SKI):c.1568C>T (p.Ser523Leu) rs730880212
NM_003036.4(SKI):c.1593T>C (p.Pro531=) rs144279718
NM_003036.4(SKI):c.1619C>T (p.Ala540Val) rs764786977
NM_003036.4(SKI):c.1632C>T (p.His544=) rs373914574
NM_003036.4(SKI):c.1797G>A (p.Lys599=) rs767488534
NM_003036.4(SKI):c.1834C>T (p.Leu612=) rs35833638
NM_003036.4(SKI):c.185C>G (p.Ala62Gly) rs28384811
NM_003036.4(SKI):c.1866G>A (p.Glu622=) rs748886393
NM_003036.4(SKI):c.1871_1873AGA[2] (p.Lys626del) rs863223726
NM_003036.4(SKI):c.1877A>T (p.Lys626Met) rs774106502
NM_003036.4(SKI):c.1887G>A (p.Glu629=) rs771953750
NM_003036.4(SKI):c.1906C>T (p.Arg636Cys) rs143354709
NM_003036.4(SKI):c.1923G>T (p.Leu641=) rs199666240
NM_003036.4(SKI):c.1942C>G (p.Arg648Gly) rs555623960
NM_003036.4(SKI):c.1974C>T (p.Arg658=) rs201895384
NM_003036.4(SKI):c.2007C>G (p.Asp669Glu) rs750838146
NM_003036.4(SKI):c.2007C>T (p.Asp669=) rs750838146
NM_003036.4(SKI):c.2052G>T (p.Leu684=) rs1271020892
NM_003036.4(SKI):c.2058C>T (p.Ala686=) rs1171554207
NM_003036.4(SKI):c.2168C>A (p.Ala723Asp) rs1264586139
NM_003036.4(SKI):c.216C>T (p.Pro72=) rs756778048
NM_003036.4(SKI):c.2184G>C (p.Pro728=) rs543584871
NM_003036.4(SKI):c.227T>C (p.Leu76Pro) rs753070477
NM_003036.4(SKI):c.240_242GCC[5] (p.Pro84dup) rs746731483
NM_003036.4(SKI):c.258G>T (p.Leu86=) rs780679449
NM_003036.4(SKI):c.294C>T (p.Thr98=) rs115746142
NM_003036.4(SKI):c.29G>A (p.Cys10Tyr) rs1553189820
NM_003036.4(SKI):c.311T>C (p.Val104Ala) rs886039149
NM_003036.4(SKI):c.360C>T (p.Arg120=) rs375024753
NM_003036.4(SKI):c.384C>T (p.Asn128=) rs768420010
NM_003036.4(SKI):c.393G>A (p.Leu131=) rs748004059
NM_003036.4(SKI):c.417C>T (p.Ile139=) rs144874401
NM_003036.4(SKI):c.456C>G (p.Arg152=) rs149898447
NM_003036.4(SKI):c.456C>T (p.Arg152=) rs149898447
NM_003036.4(SKI):c.516C>G (p.Pro172=) rs182513685
NM_003036.4(SKI):c.547G>A (p.Glu183Lys) rs1290478159
NM_003036.4(SKI):c.593C>T (p.Pro198Leu) rs1371410513
NM_003036.4(SKI):c.615C>T (p.Ala205=) rs1553189974
NM_003036.4(SKI):c.625C>A (p.Leu209Met) rs771298442
NM_003036.4(SKI):c.664C>G (p.His222Asp) rs1553189999
NM_003036.4(SKI):c.726C>T (p.Ala242=) rs139227600
NM_003036.4(SKI):c.798C>T (p.Ala266=) rs149642284
NM_003036.4(SKI):c.799C>T (p.Leu267=) rs140178396
NM_003036.4(SKI):c.844C>A (p.Arg282=) rs753783431
NM_003036.4(SKI):c.8C>T (p.Ala3Val) rs1553189801
NM_003036.4(SKI):c.918C>T (p.Asp306=) rs776475482
NM_003036.4(SKI):c.948G>A (p.Lys316=) rs368128582
NM_003036.4(SKI):c.964C>T (p.Pro322Ser) rs779317743
NM_003036.4(SKI):c.975C>T (p.Ser325=) rs753145672
NM_003036.4(SKI):c.99C>G (p.Gly33=) rs200019352

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