ClinVar Miner

List of variants in gene KCNH2 reported as uncertain significance by Blueprint Genetics

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Total variants: 11
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HGVS dbSNP
NM_172056.2(KCNH2):c.1067G>A (p.Arg356His) rs730880118
NM_172056.2(KCNH2):c.2216A>G (p.His739Arg) rs869025446
NM_172056.2(KCNH2):c.2236G>T (p.Ala746Ser) rs751681463
NM_172056.2(KCNH2):c.448C>T (p.Pro150Ser) rs869025445
NM_172056.2(KCNH2):c.473-7C>G rs146570628
NM_172056.2(KCNH2):c.473-7C>T rs146570628
NM_172056.2(KCNH2):c.755G>A (p.Arg252Gln) rs730880117
NM_172056.2(KCNH2):c.77-5C>T rs72549419
NM_172057.2(KCNH2):c.1672+8G>A rs200032281
NM_172057.2(KCNH2):c.1714C>T (p.Arg572Trp) rs577847157
NM_172057.2(KCNH2):c.2330G>A (p.Cys777Tyr) rs730880119

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