ClinVar Miner

List of variants in gene KCNH1 reported as uncertain significance by Ambry Genetics

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_172362.3(KCNH1):c.2276G>A (p.Arg759Gln) rs141905481 0.00019
NM_172362.3(KCNH1):c.2434G>A (p.Ala812Thr) rs759775665 0.00005
NM_172362.3(KCNH1):c.652A>G (p.Thr218Ala) rs200444441 0.00001
NM_172362.3(KCNH1):c.1274A>T (p.Asp425Val)
NM_172362.3(KCNH1):c.1505T>C (p.Phe502Ser) rs1553345934
NM_172362.3(KCNH1):c.1705G>A (p.Val569Met) rs1553344875
NM_172362.3(KCNH1):c.1714A>C (p.Asn572His)
NM_172362.3(KCNH1):c.2171A>T (p.Lys724Met)
NM_172362.3(KCNH1):c.2212C>T (p.Arg738Trp) rs908699888
NM_172362.3(KCNH1):c.2324A>G (p.His775Arg)
NM_172362.3(KCNH1):c.236C>G (p.Thr79Arg)
NM_172362.3(KCNH1):c.2479G>C (p.Gly827Arg)
NM_172362.3(KCNH1):c.2507G>A (p.Ser836Asn)
NM_172362.3(KCNH1):c.2726A>C (p.Glu909Ala)
NM_172362.3(KCNH1):c.91G>A (p.Val31Met)
NM_172362.3(KCNH1):c.952G>A (p.Val318Ile)

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