ClinVar Miner

List of variants in gene DSC2 reported as benign for cardiovascular disorder

Included ClinVar conditions (1486):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_024422.6(DSC2):c.2326A>G (p.Ile776Val) rs1893963 0.18480
NM_024422.6(DSC2):c.111A>G (p.Leu37=) rs12954874 0.10312
NM_024422.6(DSC2):c.*579T>C rs59914360 0.09730
NM_024422.6(DSC2):c.*1096T>C rs74749519 0.01657
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 0.00292
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 0.00104
NM_024422.6(DSC2):c.1789G>T (p.Val597Phe) rs143040393 0.00068
NM_024422.6(DSC2):c.172T>G (p.Phe58Val) rs138749562 0.00066
NM_024422.6(DSC2):c.1787C>T (p.Ala596Val) rs148185335 0.00060
NM_024422.6(DSC2):c.1901G>A (p.Arg634His) rs200475862 0.00052
NM_024422.6(DSC2):c.2497C>T (p.Arg833Cys) rs142410803 0.00045
NM_024422.6(DSC2):c.1914G>C (p.Gln638His) rs147742157 0.00036
NM_024422.6(DSC2):c.174T>C (p.Phe58=) rs150792047 0.00034
NM_024422.6(DSC2):c.1559T>C (p.Ile520Thr) rs561310777 0.00029
NM_024422.6(DSC2):c.631-13dup rs551337657 0.00026
NM_024422.6(DSC2):c.907G>A (p.Val303Met) rs145560678 0.00021
NM_024422.6(DSC2):c.2019C>T (p.Thr673=) rs201469817 0.00015
NM_024422.6(DSC2):c.1788G>A (p.Ala596=) rs146161960 0.00013
NM_024422.6(DSC2):c.2139G>A (p.Thr713=) rs112532429 0.00006
NM_024422.6(DSC2):c.1018A>G (p.Thr340Ala) rs368299411 0.00003
NM_024422.6(DSC2):c.630+19G>A rs750910749 0.00003
NM_024422.6(DSC2):c.1680G>A (p.Thr560=) rs567202599 0.00002
NM_024422.6(DSC2):c.1971C>A (p.Gly657=) rs397517396 0.00001
NM_024422.6(DSC2):c.2125+18T>G rs750103770 0.00001
NM_024422.6(DSC2):c.*133G>A rs139923163
NM_024422.6(DSC2):c.1350A>G (p.Arg450=) rs144242114
NM_024422.6(DSC2):c.1664-17dup
NM_024422.6(DSC2):c.2365GGA[1] (p.Gly790del) rs377272752
NM_024422.6(DSC2):c.2393G>A (p.Arg798Gln) rs61731921
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs) rs200056085
NM_024422.6(DSC2):c.370C>T (p.His124Tyr) rs371443698
NM_024422.6(DSC2):c.630+13del rs763577727
NM_024422.6(DSC2):c.70-11del rs572309510
NM_024422.6(DSC2):c.70-18dup rs572309510
NM_024422.6(DSC2):c.70-20G>A rs374486794
NM_024422.6(DSC2):c.70-8dup rs1048960125
NM_024422.6(DSC2):c.942+13_942+15dup rs5823783
NM_024422.6(DSC2):c.942+23C>A
NM_024422.6(DSC2):c.943-9dup rs1987283946

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