ClinVar Miner

List of variants studied for obsolete sudden cardiac death

Included ClinVar conditions (1):
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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.1381T>G (p.Leu461Val) rs41313697 0.00352
NM_005477.3(HCN4):c.2275G>A (p.Val759Ile) rs62641689 0.00258
NM_017636.4(TRPM4):c.1575G>A (p.Trp525Ter) rs71352737 0.00168
NM_005751.5(AKAP9):c.5369T>G (p.Val1790Gly) rs151021935 0.00082
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962 0.00048
NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg) rs199473182 0.00034
NM_015141.4(GPD1L):c.520G>A (p.Glu174Lys) rs112122950 0.00034
NM_000335.5(SCN5A):c.5035G>A (p.Ala1679Thr) rs199473294 0.00009
NM_001276345.2(TNNT2):c.720-4G>T rs201753429 0.00009
NM_017636.4(TRPM4):c.1826C>G (p.Ala609Gly) rs547541099 0.00006
NM_000257.4(MYH7):c.3853+1G>A rs202031879 0.00002
NM_001005242.3(PKP2):c.68G>A (p.Gly23Glu) rs746530389 0.00002
NM_002667.5(PLN):c.116T>G (p.Leu39Ter) rs111033560 0.00002
NM_003803.4(MYOM1):c.3190C>T (p.His1064Tyr) rs755409090 0.00002
NM_000218.3(KCNQ1):c.1449C>A (p.Asn483Lys) rs1849966701 0.00001
NM_001148.6(ANK2):c.9173G>A (p.Arg3058His) rs730880048 0.00001
NM_000238.4(KCNH2):c.239C>T (p.Ala80Val) rs199473493
NM_000719.7(CACNA1C):c.5626A>G (p.Lys1876Glu) rs869025368
NM_000719.7(CACNA1C):c.985G>A (p.Gly329Ser) rs786205744
NM_001035.3(RYR2):c.14650A>G (p.Met4884Val) rs1553341966
NM_001040151.2(SCN3B):c.587C>G (p.Ser196Cys) rs777776827
NM_001943.5(DSG2):c.2979G>T (p.Gln993His) rs565904909
NM_006393.3(NEBL):c.2616G>T (p.Lys872Asn) rs869025491
NM_130797.4(DPP6):c.674C>T (p.Pro225Leu) rs869025384

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