ClinVar Miner

List of variants in gene DSC2 studied for Cardiovascular phenotype

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Total variants: 61
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HGVS dbSNP
NM_024422.6(DSC2):c.1019C>A (p.Thr340Asn) rs757065157
NM_024422.6(DSC2):c.1034T>C (p.Ile345Thr) rs777688726
NM_024422.6(DSC2):c.1073C>A (p.Thr358Asn) rs139399951
NM_024422.6(DSC2):c.1073C>T (p.Thr358Ile) rs139399951
NM_024422.6(DSC2):c.1081G>A (p.Val361Met) rs751810874
NM_024422.6(DSC2):c.1103C>T (p.Thr368Ile) rs538663626
NM_024422.6(DSC2):c.111A>G (p.Leu37=) rs12954874
NM_024422.6(DSC2):c.1264-5C>T rs183614856
NM_024422.6(DSC2):c.1435C>T (p.Arg479Cys) rs138761522
NM_024422.6(DSC2):c.1452A>G (p.Ala484=) rs1555638690
NM_024422.6(DSC2):c.1521-1G>A rs886039128
NM_024422.6(DSC2):c.1634_1636ATA[1] (p.Asn546del) rs1485939608
NM_024422.6(DSC2):c.1663+4A>G rs369849387
NM_024422.6(DSC2):c.1680G>A (p.Thr560=) rs567202599
NM_024422.6(DSC2):c.1719C>T (p.Asn573=) rs140167653
NM_024422.6(DSC2):c.1729A>G (p.Ile577Val) rs201845641
NM_024422.6(DSC2):c.1766T>C (p.Met589Thr) rs201856473
NM_024422.6(DSC2):c.1775C>T (p.Ala592Val) rs140232809
NM_024422.6(DSC2):c.1787C>T (p.Ala596Val) rs148185335
NM_024422.6(DSC2):c.1789G>T (p.Val597Phe) rs143040393
NM_024422.6(DSC2):c.1901G>T (p.Arg634Leu) rs200475862
NM_024422.6(DSC2):c.2012_2013delinsCT (p.Cys671Ser) rs869025387
NM_024422.6(DSC2):c.2059G>A (p.Gly687Ser) rs199616533
NM_024422.6(DSC2):c.2104T>C (p.Leu702=) rs753742489
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val) rs151024019
NM_024422.6(DSC2):c.2202G>A (p.Gln734=) rs775922060
NM_024422.6(DSC2):c.2244C>T (p.Asp748=) rs886039103
NM_024422.6(DSC2):c.2314G>A (p.Val772Met) rs146029947
NM_024422.6(DSC2):c.2326A>G (p.Ile776Val) rs1893963
NM_024422.6(DSC2):c.2328C>G (p.Ile776Met) rs1789054
NM_024422.6(DSC2):c.2335G>A (p.Gly779Arg) rs139290300
NM_024422.6(DSC2):c.2344G>A (p.Glu782Lys) rs866805043
NM_024422.6(DSC2):c.2353G>A (p.Glu785Lys) rs752873618
NM_024422.6(DSC2):c.2365_2367GGA[1] (p.Gly790del) rs377272752
NM_024422.6(DSC2):c.236T>G (p.Val79Gly) rs886038828
NM_024422.6(DSC2):c.2393G>A (p.Arg798Gln) rs61731921
NM_024422.6(DSC2):c.2430G>A (p.Arg810=) rs755276378
NM_024422.6(DSC2):c.2498G>A (p.Arg833His) rs370325533
NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg) rs147109895
NM_024422.6(DSC2):c.2636A>G (p.Asp879Gly) rs143342988
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs) rs200056085
NM_024422.6(DSC2):c.270G>A (p.Glu90=) rs138643506
NM_024422.6(DSC2):c.304G>A (p.Glu102Lys) rs144799937
NM_024422.6(DSC2):c.321G>T (p.Lys107Asn) rs140856220
NM_024422.6(DSC2):c.325A>C (p.Ile109Leu) rs1256252633
NM_024422.6(DSC2):c.348A>G (p.Gln116=) rs137941742
NM_024422.6(DSC2):c.351A>G (p.Thr117=) rs117812913
NM_024422.6(DSC2):c.370C>T (p.His124Tyr) rs371443698
NM_024422.6(DSC2):c.408A>G (p.Arg136=) rs561653481
NM_024422.6(DSC2):c.475-5T>C rs1555639919
NM_024422.6(DSC2):c.669A>G (p.Pro223=) rs923697621
NM_024422.6(DSC2):c.697A>G (p.Ile233Val) rs886039077
NM_024422.6(DSC2):c.754A>G (p.Ile252Val) rs751996698
NM_024422.6(DSC2):c.802A>G (p.Thr268Ala) rs201015785
NM_024422.6(DSC2):c.82G>T (p.Ala28Ser) rs139979318
NM_024422.6(DSC2):c.857G>T (p.Gly286Val) rs199682735
NM_024422.6(DSC2):c.861_862delinsCT (p.Gln287_Val288delinsHisLeu) rs1555639508
NM_024422.6(DSC2):c.870A>G (p.Pro290=) rs142653119
NM_024422.6(DSC2):c.872C>T (p.Ser291Leu) rs755952123
NM_024422.6(DSC2):c.907G>A (p.Val303Met) rs145560678
NM_024422.6(DSC2):c.943-1G>A rs796756333

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