ClinVar Miner

List of variants in gene KCNH2 reported as likely pathogenic by Integrated Genetics/Laboratory Corporation of America

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Total variants: 9
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NM_000238.4(KCNH2):c.2860C>T (p.Arg954Cys) rs141401803
NM_000238.4(KCNH2):c.3092del (p.Gly1031fs)
NM_000238.4(KCNH2):c.3100_3107delinsGGC (p.Pro1034fs)
NM_172056.2(KCNH2):c.1280A>C (p.Tyr427Ser) rs199472897
NM_172056.2(KCNH2):c.1888G>A (p.Val630Ile) rs199472958
NM_172056.2(KCNH2):c.2162C>T (p.Pro721Leu) rs199472986
NM_172056.2(KCNH2):c.98A>C (p.Asn33Thr) rs199473487
NM_172057.2(KCNH2):c.1746del (p.Pro583fs) rs1554424403
NM_172057.2(KCNH2):c.2079_2092del (p.Pro694fs) rs1554424044

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