ClinVar Miner

List of variants in gene DSC2 reported by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_024422.6(DSC2):c.2326A>G (p.Ile776Val) rs1893963 0.17788
NM_024422.6(DSC2):c.111A>G (p.Leu37=) rs12954874 0.10312
NM_024422.6(DSC2):c.351A>G (p.Thr117=) rs117812913 0.00832
NM_024422.6(DSC2):c.1719C>T (p.Asn573=) rs140167653 0.00590
NM_024422.6(DSC2):c.1264-5C>T rs183614856 0.00265
NM_024422.6(DSC2):c.2616C>T (p.Cys872=) rs61731920 0.00194
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val) rs151024019 0.00138
NM_024422.6(DSC2):c.1073C>T (p.Thr358Ile) rs139399951 0.00098
NM_024422.6(DSC2):c.2636A>G (p.Asp879Gly) rs143342988 0.00083
NM_024422.6(DSC2):c.304G>A (p.Glu102Lys) rs144799937 0.00070
NM_024422.6(DSC2):c.172T>G (p.Phe58Val) rs138749562 0.00061
NM_024422.6(DSC2):c.1787C>T (p.Ala596Val) rs148185335 0.00060
NM_024422.6(DSC2):c.1789G>T (p.Val597Phe) rs143040393 0.00060
NM_024422.6(DSC2):c.1914G>C (p.Gln638His) rs147742157 0.00036
NM_024422.6(DSC2):c.1729A>G (p.Ile577Val) rs201845641 0.00025
NM_024422.6(DSC2):c.348A>G (p.Gln116=) rs137941742 0.00025
NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg) rs147109895 0.00023
NM_024422.6(DSC2):c.2546A>C (p.His849Pro) rs184487763 0.00021
NM_024422.6(DSC2):c.907G>A (p.Val303Met) rs145560678 0.00021
NM_024422.6(DSC2):c.2226A>G (p.Thr742=) rs142807209 0.00014
NM_024422.6(DSC2):c.82G>T (p.Ala28Ser) rs139979318 0.00008
NM_024422.6(DSC2):c.2259G>A (p.Ala753=) rs201086521 0.00005
NM_024422.6(DSC2):c.1018A>G (p.Thr340Ala) rs368299411 0.00003
NM_024422.6(DSC2):c.321G>T (p.Lys107Asn) rs140856220 0.00003
NM_024422.6(DSC2):c.363G>T (p.Lys121Asn) rs762877422 0.00002
NM_024422.6(DSC2):c.1110T>C (p.Asp370=) rs1567977994 0.00001
NM_024422.6(DSC2):c.144T>G (p.Leu48=) rs1598592489 0.00001
NM_024422.6(DSC2):c.149G>A (p.Gly50Asp) rs397517391 0.00001
NM_024422.6(DSC2):c.154+9G>A rs562001495 0.00001
NM_024422.6(DSC2):c.176C>T (p.Thr59Ile) rs544457730 0.00001
NM_024422.6(DSC2):c.2125+1del rs794728072 0.00001
NM_024422.6(DSC2):c.2258C>T (p.Ala753Val) rs1217851416 0.00001
NM_024422.6(DSC2):c.2430G>A (p.Arg810=) rs755276378 0.00001
NM_024422.6(DSC2):c.425G>C (p.Cys142Ser) rs1478081073 0.00001
NM_024422.6(DSC2):c.475-4C>T rs1431130615 0.00001
NM_024422.6(DSC2):c.561T>C (p.Tyr187=) rs749063028 0.00001
NM_024422.6(DSC2):c.608G>A (p.Arg203His) rs758527425 0.00001
NM_024422.6(DSC2):c.1281A>C (p.Glu427Asp) rs1238451971
NM_024422.6(DSC2):c.1350A>G (p.Arg450=) rs144242114
NM_024422.6(DSC2):c.1707C>T (p.Asp569=) rs201517977
NM_024422.6(DSC2):c.1787C>G (p.Ala596Gly) rs148185335
NM_024422.6(DSC2):c.1913_1916del (p.Gln638fs) rs1452512048
NM_024422.6(DSC2):c.2112_2116del (p.Phe708fs) rs1555637555
NM_024422.6(DSC2):c.2393G>A (p.Arg798Gln) rs61731921
NM_024422.6(DSC2):c.2502T>C (p.Leu834=) rs1598570166
NM_024422.6(DSC2):c.2509-111_2509-110del rs786205428
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs) rs200056085
NM_024422.6(DSC2):c.70-11del rs572309510
NM_024422.6(DSC2):c.702G>A (p.Glu234=) rs397517402
NM_024422.6(DSC2):c.96del (p.Ala31_Cys32insTer) rs397517408

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