ClinVar Miner

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

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Total variants: 35
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HGVS dbSNP
NM_000238.3(KCNH2):c.1426G>A (p.Val476Ile) rs199472908
NM_000238.3(KCNH2):c.1496T>G (p.Leu499Arg) rs794728370
NM_000238.3(KCNH2):c.1805T>C (p.Leu602Pro) rs876661348
NM_000238.3(KCNH2):c.1847_1855del (p.Tyr616_Thr618del) rs1554425762
NM_000238.3(KCNH2):c.1954_1956delinsCAC (p.Tyr652His) rs794728490
NM_000238.3(KCNH2):c.2144C>T (p.Ala715Val) rs780656919
NM_000238.3(KCNH2):c.2246G>T (p.Gly749Val) rs199472989
NM_000238.3(KCNH2):c.2390C>A (p.Ala797Asp) rs794728389
NM_000238.3(KCNH2):c.2592+3G>A rs906562788
NM_000238.3(KCNH2):c.2651A>G (p.Gln884Arg) rs1563149602
NM_000238.3(KCNH2):c.2653C>T (p.Arg885Cys) rs143512106
NM_000238.3(KCNH2):c.2654G>A (p.Arg885His) rs202194495
NM_000238.3(KCNH2):c.2707G>A (p.Gly903Arg) rs199473669
NM_000238.3(KCNH2):c.2717C>T (p.Ser906Leu) rs199473435
NM_000238.3(KCNH2):c.2738C>T (p.Ala913Val) rs77331749
NM_000238.3(KCNH2):c.2750C>T (p.Pro917Leu) rs76420733
NM_000238.3(KCNH2):c.2771G>C (p.Gly924Ala) rs199473009
NM_000238.3(KCNH2):c.2948C>T (p.Thr983Ile) rs149955375
NM_000238.3(KCNH2):c.3007G>A (p.Asp1003Asn) rs794728402
NM_000238.3(KCNH2):c.3107G>A (p.Gly1036Asp) rs199473022
NM_000238.3(KCNH2):c.3233A>G (p.Tyr1078Cys) rs199473029
NM_000238.3(KCNH2):c.3278C>T (p.Pro1093Leu) rs199473545
NM_000238.3(KCNH2):c.3365C>G (p.Pro1122Arg) rs531460655
NM_000238.3(KCNH2):c.3365C>T (p.Pro1122Leu) rs531460655
NM_000238.3(KCNH2):c.345_347GAA[1] (p.Lys116del) rs864622157
NM_000238.3(KCNH2):c.422C>T (p.Pro141Leu) rs199472864
NM_000238.3(KCNH2):c.442C>T (p.Arg148Trp) rs139544114
NM_000238.3(KCNH2):c.526C>T (p.Arg176Trp) rs36210422
NM_000238.3(KCNH2):c.551_559GCGCGGGCG[1] (p.184_186GAG[1]) rs551056698
NM_000238.3(KCNH2):c.617_618delinsTT (p.Ser206Ile) rs1060500660
NM_000238.3(KCNH2):c.982C>T (p.Arg328Cys) rs199473505
NM_172056.2(KCNH2):c.2456C>A (p.Ala819Glu) rs774109163
NM_172056.2(KCNH2):c.2469del (p.Asn823fs) rs1060499871
NM_172056.2(KCNH2):c.2503del (p.Leu835fs) rs546898924
NM_172057.2(KCNH2):c.2078_2080dup (p.Arg693_Pro694insArg) rs1060499872

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