ClinVar Miner

List of variants reported as uncertain significance for KCNH1 associated disorder

Included ClinVar conditions (4):
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ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_172362.3(KCNH1):c.2162T>C (p.Met721Thr) rs140043333 0.00008
NM_172362.3(KCNH1):c.2392G>A (p.Val798Ile) rs761754626 0.00006
NM_172362.3(KCNH1):c.1022G>A (p.Arg341Lys) rs755319456 0.00001
NM_172362.3(KCNH1):c.2054C>T (p.Thr685Met) rs1349830428 0.00001
NM_172362.3(KCNH1):c.2482G>A (p.Gly828Arg) rs752232888 0.00001
NM_172362.3(KCNH1):c.1034G>C (p.Gly345Ala) rs1558526097
NM_172362.3(KCNH1):c.115G>T (p.Asp39Tyr)
NM_172362.3(KCNH1):c.1180G>A (p.Ala394Thr) rs2102561634
NM_172362.3(KCNH1):c.1201G>C (p.Gly401Arg)
NM_172362.3(KCNH1):c.137A>G (p.Asn46Ser)
NM_172362.3(KCNH1):c.1493T>C (p.Val498Ala) rs2102406845
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.2020C>T (p.Arg674Trp) rs754794236
NM_172362.3(KCNH1):c.2206C>G (p.Pro736Ala) rs1681345673
NM_172362.3(KCNH1):c.2636C>T (p.Ser879Leu) rs2149000783
NM_172362.3(KCNH1):c.2658G>C (p.Lys886Asn)
NM_172362.3(KCNH1):c.2735A>C (p.His912Pro) rs2149000714
NM_172362.3(KCNH1):c.2788A>G (p.Arg930Gly) rs2149000661
NM_172362.3(KCNH1):c.2859_2861delinsTAC (p.Glu953_Ile954delinsAspThr) rs1681322266
NM_172362.3(KCNH1):c.338T>C (p.Ile113Thr) rs2102473134

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