ClinVar Miner

List of variants in gene KCNH2 reported as uncertain significance by Stanford Center for Inherited Cardiovascular Disease, Stanford University

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000238.4(KCNH2):c.442C>T (p.Arg148Trp) rs139544114 0.00062
NM_000238.4(KCNH2):c.2948C>T (p.Thr983Ile) rs149955375 0.00022
NM_000238.4(KCNH2):c.3278C>T (p.Pro1093Leu) rs199473545 0.00007
NM_000238.4(KCNH2):c.422C>T (p.Pro141Leu) rs199472864 0.00007
NM_000238.4(KCNH2):c.2780G>T (p.Trp927Leu) rs794728399 0.00006
NM_000238.4(KCNH2):c.2665T>G (p.Leu889Val) rs765427343 0.00004
NM_000238.4(KCNH2):c.26C>T (p.Ala9Val) rs775317201 0.00001
NM_000238.4(KCNH2):c.652A>G (p.Met218Val) rs199472869 0.00001
NM_000238.4(KCNH2):c.1496T>G (p.Leu499Arg) rs794728370
NM_000238.4(KCNH2):c.1805T>C (p.Leu602Pro) rs876661348
NM_000238.4(KCNH2):c.2390C>A (p.Ala797Asp) rs794728389
NM_000238.4(KCNH2):c.2626G>A (p.Glu876Lys) rs1554424688
NM_000238.4(KCNH2):c.3365C>G (p.Pro1122Arg) rs531460655
NM_000238.4(KCNH2):c.545C>G (p.Ser182Trp) rs1057517742

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