ClinVar Miner

List of variants in gene KCNH2 reported as uncertain significance for not specified

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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_000238.4(KCNH2):c.982C>T (p.Arg328Cys) rs199473505 0.00063
NM_000238.4(KCNH2):c.442C>T (p.Arg148Trp) rs139544114 0.00062
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) rs36210422 0.00061
NM_000238.4(KCNH2):c.2707G>A (p.Gly903Arg) rs199473669 0.00028
NM_000238.4(KCNH2):c.2941A>G (p.Ser981Gly) rs76649554 0.00022
NM_000238.4(KCNH2):c.2948C>T (p.Thr983Ile) rs149955375 0.00022
NM_000238.4(KCNH2):c.3107G>A (p.Gly1036Asp) rs199473022 0.00013
NM_000238.4(KCNH2):c.865G>A (p.Glu289Lys) rs199472880 0.00009
NM_000238.4(KCNH2):c.934C>T (p.Arg312Cys) rs199472885 0.00008
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.2750C>T (p.Pro917Leu) rs76420733 0.00005
NM_000238.4(KCNH2):c.2717C>T (p.Ser906Leu) rs199473435 0.00004
NM_000238.4(KCNH2):c.823A>C (p.Ser275Arg) rs1268162009 0.00004
NM_000238.4(KCNH2):c.2144C>T (p.Ala715Val) rs780656919 0.00003
NM_000238.4(KCNH2):c.2792C>T (p.Pro931Leu) rs749759697 0.00003
NM_000238.4(KCNH2):c.2843G>A (p.Arg948His) rs199473011 0.00003
NM_000238.4(KCNH2):c.3094C>T (p.Arg1032Trp) rs373394254 0.00003
NM_000238.4(KCNH2):c.1459G>A (p.Gly487Ser) rs562875924 0.00002
NM_000238.4(KCNH2):c.3007G>A (p.Asp1003Asn) rs794728402 0.00002
NM_000238.4(KCNH2):c.3233A>G (p.Tyr1078Cys) rs199473029 0.00002
NM_000238.4(KCNH2):c.3289G>A (p.Val1097Ile) rs199473030 0.00002
NM_000238.4(KCNH2):c.1426G>A (p.Val476Ile) rs199472908 0.00001
NM_000238.4(KCNH2):c.1946-8G>A rs1384850938 0.00001
NM_000238.4(KCNH2):c.2660G>A (p.Arg887His) rs199473432 0.00001
NM_000238.4(KCNH2):c.3394C>G (p.Pro1132Ala) rs786205422 0.00001
NM_000238.4(KCNH2):c.-9G>A rs1287855282
NM_000238.4(KCNH2):c.1496T>G (p.Leu499Arg) rs794728370
NM_000238.4(KCNH2):c.1591C>T (p.Arg531Trp) rs199472915
NM_000238.4(KCNH2):c.1805T>C (p.Leu602Pro) rs876661348
NM_000238.4(KCNH2):c.2246G>T (p.Gly749Val) rs199472989
NM_000238.4(KCNH2):c.235G>A (p.Ala79Thr) rs794728494
NM_000238.4(KCNH2):c.2390C>A (p.Ala797Asp) rs794728389
NM_000238.4(KCNH2):c.2398+105del rs546898924
NM_000238.4(KCNH2):c.2398+58C>A rs774109163
NM_000238.4(KCNH2):c.2398+71del rs1060499871
NM_000238.4(KCNH2):c.2437G>A (p.Ala813Thr) rs1801032078
NM_000238.4(KCNH2):c.2482T>C (p.Cys828Arg) rs1801029729
NM_000238.4(KCNH2):c.2592+3G>A rs906562788
NM_000238.4(KCNH2):c.2651A>G (p.Gln884Arg) rs1563149602
NM_000238.4(KCNH2):c.2653C>T (p.Arg885Cys) rs143512106
NM_000238.4(KCNH2):c.2654G>A (p.Arg885His) rs202194495
NM_000238.4(KCNH2):c.2771G>C (p.Gly924Ala) rs199473009
NM_000238.4(KCNH2):c.3087_3096delinsGC (p.Ser1029fs) rs1554424085
NM_000238.4(KCNH2):c.3365C>G (p.Pro1122Arg) rs531460655
NM_000238.4(KCNH2):c.345GAA[1] (p.Lys116del) rs864622157
NM_000238.4(KCNH2):c.499C>G (p.Leu167Val) rs1801462947
NM_000238.4(KCNH2):c.551GCGCGGGCG[1] (p.184GAG[1]) rs551056698
NM_000238.4(KCNH2):c.551GCGCGGGCG[4] (p.Gly189_Ala190insGlyAlaGlyGlyAlaGly) rs551056698
NM_000238.4(KCNH2):c.617_618delinsTT (p.Ser206Ile) rs1060500660
NM_172057.2(KCNH2):c.2078_2080dup (p.Arg693_Pro694insArg) rs1060499872

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