ClinVar Miner

List of variants in gene KCNH2 reported as uncertain significance by Mendelics

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) rs36210422 0.00061
NM_000238.4(KCNH2):c.2944G>A (p.Asp982Asn) rs569452580 0.00010
NM_000238.4(KCNH2):c.2674C>T (p.Arg892Cys) rs201627778 0.00006
NM_000238.4(KCNH2):c.2684C>T (p.Thr895Met) rs199473434 0.00005
NM_000238.4(KCNH2):c.274C>T (p.Arg92Cys) rs563611707 0.00005
NM_000238.4(KCNH2):c.2843G>A (p.Arg948His) rs199473011 0.00003
NM_000238.4(KCNH2):c.3224C>T (p.Pro1075Leu) rs199473028 0.00003
NM_000238.4(KCNH2):c.3095G>A (p.Arg1032Gln) rs199473020 0.00001
NM_000238.4(KCNH2):c.2654G>A (p.Arg885His) rs202194495
NM_000238.4(KCNH2):c.2771G>A (p.Gly924Glu) rs199473009
NM_000238.4(KCNH2):c.453dup (p.Thr152fs) rs761863251

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