ClinVar Miner

List of variants reported as likely pathogenic for Long QT syndrome 2

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Total variants: 20
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HGVS dbSNP
NM_000238.3(KCNH2):c.1238T>G (p.Leu413Arg) rs199472893
NM_000238.3(KCNH2):c.1352C>T (p.Pro451Leu) rs199472902
NM_000238.3(KCNH2):c.1402dup (p.Leu468fs) rs869025448
NM_000238.3(KCNH2):c.1474C>T (p.His492Tyr) rs199472910
NM_000238.3(KCNH2):c.1525G>A (p.Asp509Asn) rs370637245
NM_000238.3(KCNH2):c.1874T>C (p.Val625Ala) rs199472951
NM_000238.3(KCNH2):c.1876G>A (p.Gly626Ser) rs199472953
NM_000238.3(KCNH2):c.1888G>A (p.Val630Ile) rs199472958
NM_000238.3(KCNH2):c.1952T>G (p.Met651Arg) rs1554425569
NM_000238.3(KCNH2):c.197G>A (p.Cys66Tyr) rs1554430943
NM_000238.3(KCNH2):c.2053C>T (p.Arg685Cys) rs778135438
NM_000238.3(KCNH2):c.245T>C (p.Ile82Thr) rs1563189895
NM_000238.3(KCNH2):c.2509G>A (p.Asp837Asn) rs199473005
NM_000238.3(KCNH2):c.2510A>G (p.Asp837Gly) rs199473004
NM_000238.3(KCNH2):c.2675_2679dup (p.Arg894fs) rs1131692183
NM_000238.3(KCNH2):c.2738C>T (p.Ala913Val) rs77331749
NM_000238.3(KCNH2):c.2843G>A (p.Arg948His) rs199473011
NM_000238.3(KCNH2):c.774dup (p.Asp259fs) rs869025447
NM_000238.3(KCNH2):c.842dup (p.Ala282fs) rs730880374
NM_000238.3(KCNH2):c.92T>A (p.Ile31Asn) rs199472833

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