ClinVar Miner

List of variants in gene KCNH1 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_172362.3(KCNH1):c.1911T>C (p.Ile637=) rs111629488 0.00446
NM_172362.3(KCNH1):c.2604G>A (p.Ala868=) rs1135318 0.00217
NM_172362.3(KCNH1):c.2455T>A (p.Ser819Thr) rs139659266 0.00174
NM_172362.3(KCNH1):c.2823C>T (p.Asn941=) rs143091808 0.00080
NM_172362.3(KCNH1):c.2768A>C (p.Gln923Pro) rs140939826 0.00058
NM_172362.3(KCNH1):c.79_79+3dup rs777147129 0.00053
NM_172362.3(KCNH1):c.2532C>T (p.Cys844=) rs200699122 0.00024
NM_172362.3(KCNH1):c.2327C>G (p.Ala776Gly) rs138931464 0.00020
NM_172362.3(KCNH1):c.2162T>C (p.Met721Thr) rs140043333 0.00008
NM_172362.3(KCNH1):c.1740G>A (p.Pro580=) rs145789974 0.00005
NM_172362.3(KCNH1):c.2603C>T (p.Ala868Val) rs773735492 0.00004
NM_172362.3(KCNH1):c.544T>A (p.Ser182Thr) rs749800577 0.00004
NM_172362.3(KCNH1):c.2143C>T (p.Arg715Cys) rs116424709 0.00001
NM_172362.3(KCNH1):c.2739G>A (p.Ser913=) rs776900309 0.00001
NM_172362.3(KCNH1):c.943G>A (p.Val315Met) rs769601481 0.00001
NM_172362.3(KCNH1):c.9G>A (p.Met3Ile) rs752274336 0.00001
NM_172362.3(KCNH1):c.1088_1094del (p.Arg363fs) rs1553360094
NM_172362.3(KCNH1):c.1172A>G (p.His391Arg)
NM_172362.3(KCNH1):c.1383C>A (p.Leu461=)
NM_172362.3(KCNH1):c.1478C>A (p.Thr493Asn) rs1574266171
NM_172362.3(KCNH1):c.173C>A (p.Ala58Glu) rs1691367220
NM_172362.3(KCNH1):c.1814G>A (p.Gly605Glu)
NM_172362.3(KCNH1):c.2337C>G (p.Asn779Lys)
NM_172362.3(KCNH1):c.2414C>T (p.Thr805Ile)
NM_172362.3(KCNH1):c.2614G>C (p.Ala872Pro) rs2149000798
NM_172362.3(KCNH1):c.2684G>A (p.Gly895Asp)
NM_172362.3(KCNH1):c.284T>G (p.Phe95Cys) rs1571649012
NM_172362.3(KCNH1):c.700T>C (p.Leu234=)

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