ClinVar Miner

List of variants in gene KCNH2 reported as uncertain significance by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val) rs77331749 0.00056
NM_000238.4(KCNH2):c.3107G>A (p.Gly1036Asp) rs199473022 0.00013
NM_000238.4(KCNH2):c.865G>A (p.Glu289Lys) rs199472880 0.00009
NM_000238.4(KCNH2):c.934C>T (p.Arg312Cys) rs199472885 0.00008
NM_000238.4(KCNH2):c.2750C>T (p.Pro917Leu) rs76420733 0.00005
NM_000238.4(KCNH2):c.823A>C (p.Ser275Arg) rs1268162009 0.00004
NM_000238.4(KCNH2):c.2792C>T (p.Pro931Leu) rs749759697 0.00003
NM_000238.4(KCNH2):c.2843G>A (p.Arg948His) rs199473011 0.00003
NM_000238.4(KCNH2):c.3094C>T (p.Arg1032Trp) rs373394254 0.00003
NM_000238.4(KCNH2):c.1459G>A (p.Gly487Ser) rs562875924 0.00002
NM_000238.4(KCNH2):c.3289G>A (p.Val1097Ile) rs199473030 0.00002
NM_000238.4(KCNH2):c.188C>A (p.Pro63His) rs766379103 0.00001
NM_000238.4(KCNH2):c.1946-8G>A rs1384850938 0.00001
NM_000238.4(KCNH2):c.2660G>A (p.Arg887His) rs199473432 0.00001
NM_000238.4(KCNH2):c.3394C>G (p.Pro1132Ala) rs786205422 0.00001
NM_000238.4(KCNH2):c.773C>T (p.Pro258Leu) rs1367019959 0.00001
NM_000238.4(KCNH2):c.-9G>A rs1287855282
NM_000238.4(KCNH2):c.1519C>T (p.Pro507Ser) rs794728371
NM_000238.4(KCNH2):c.1591C>T (p.Arg531Trp) rs199472915
NM_000238.4(KCNH2):c.235G>A (p.Ala79Thr) rs794728494
NM_000238.4(KCNH2):c.2437G>A (p.Ala813Thr) rs1801032078
NM_000238.4(KCNH2):c.2482T>C (p.Cys828Arg) rs1801029729
NM_000238.4(KCNH2):c.2651A>G (p.Gln884Arg) rs1563149602
NM_000238.4(KCNH2):c.2653C>T (p.Arg885Cys) rs143512106
NM_000238.4(KCNH2):c.3087_3096delinsGC (p.Ser1029fs) rs1554424085
NM_000238.4(KCNH2):c.499C>G (p.Leu167Val) rs1801462947
NM_000238.4(KCNH2):c.551GCGCGGGCG[4] (p.Gly189_Ala190insGlyAlaGlyGlyAlaGly) rs551056698

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