ClinVar Miner

List of variants in gene KCNH1 studied for Zimmermann-Laband syndrome 1

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_172362.3(KCNH1):c.2136T>C (p.Asp712=) rs1135317 0.72895
NM_002238.3(KCNH1):c.[1066G>C;974C>A]
NM_172362.3(KCNH1):c.1034G>C (p.Gly345Ala) rs1558526097
NM_172362.3(KCNH1):c.1055C>A (p.Ser352Tyr) rs730882172
NM_172362.3(KCNH1):c.1070G>A (p.Arg357Gln) rs886041300
NM_172362.3(KCNH1):c.1123G>A (p.Gly375Arg) rs730882174
NM_172362.3(KCNH1):c.1123G>C (p.Gly375Arg)
NM_172362.3(KCNH1):c.1135C>G (p.Leu379Val) rs730882176
NM_172362.3(KCNH1):c.1147G>C (p.Val383Leu) rs730882173
NM_172362.3(KCNH1):c.137A>G (p.Asn46Ser)
NM_172362.3(KCNH1):c.1480A>G (p.Ile494Val) rs727502819
NM_172362.3(KCNH1):c.1486G>A (p.Gly496Arg) rs730882175
NM_172362.3(KCNH1):c.1559G>A (p.Arg520Gln) rs1684483227
NM_172362.3(KCNH1):c.1717C>T (p.Arg573Cys) rs1684345922
NM_172362.3(KCNH1):c.1958C>T (p.Thr653Ile) rs1683842802
NM_172362.3(KCNH1):c.2658G>C (p.Lys886Asn)
NM_172362.3(KCNH1):c.2859_2861delinsTAC (p.Glu953_Ile954delinsAspThr) rs1681322266
NM_172362.3(KCNH1):c.80-6del rs56223346

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