ClinVar Miner

List of variants in gene KCNH2 reported by Athena Diagnostics Inc

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_000238.4(KCNH2):c.1956T>C (p.Tyr652=) rs1137617 0.70278
NM_000238.4(KCNH2):c.1692A>G (p.Leu564=) rs1805121 0.51247
NM_000238.4(KCNH2):c.2690A>C (p.Lys897Thr) rs1805123 0.20300
NM_000238.4(KCNH2):c.1809C>T (p.Gly603=) rs41314375 0.01398
NM_000238.4(KCNH2):c.1558-5C>T rs114186001 0.00642
NM_000238.4(KCNH2):c.1128+1784C>T rs371509270 0.00302
NM_000238.4(KCNH2):c.621C>T (p.Ser207=) rs41314417 0.00289
NM_000238.4(KCNH2):c.558C>T (p.Gly186=) rs139533994 0.00228
NM_000238.4(KCNH2):c.3111C>T (p.Asp1037=) rs200799870 0.00134
NM_000238.4(KCNH2):c.1563C>T (p.Ile521=) rs143011005 0.00097
NM_000238.4(KCNH2):c.697G>T (p.Ala233Ser) rs772037564 0.00023
NM_000238.4(KCNH2):c.2692+7C>T rs372023163 0.00013
NM_000238.4(KCNH2):c.422C>T (p.Pro141Leu) rs199472864 0.00007
NM_000238.4(KCNH2):c.2932G>A (p.Glu978Lys) rs141117135 0.00006
NM_000238.4(KCNH2):c.1128+1884G>A rs765679790 0.00004
NM_000238.4(KCNH2):c.1128+7G>A rs200884259 0.00003
NM_000238.4(KCNH2):c.2902C>G (p.Pro968Ala) rs753788508 0.00003
NM_000238.4(KCNH2):c.3153-4C>T rs181119727 0.00003
NM_000238.4(KCNH2):c.1459G>A (p.Gly487Ser) rs562875924 0.00002
NM_000238.4(KCNH2):c.1319C>T (p.Pro440Leu) rs199473509 0.00001
NM_000238.4(KCNH2):c.3215C>T (p.Thr1072Met) rs781624566 0.00001
NM_000238.4(KCNH2):c.1320G>T (p.Pro440=) rs144926928
NM_000238.4(KCNH2):c.302A>G (p.Lys101Arg) rs2117062159
NM_000238.4(KCNH2):c.3140G>T (p.Arg1047Leu) rs36210421
NM_000238.4(KCNH2):c.3185C>T (p.Thr1062Ile) rs761811244
NM_000238.4(KCNH2):c.3331-13GT[2] rs41313749
NM_000238.4(KCNH2):c.551GCGCGGGCG[1] (p.184GAG[1]) rs551056698
NM_000238.4(KCNH2):c.670G>A (p.Gly224Arg) rs794728358
NM_000238.4(KCNH2):c.77-5C>G rs72549419
NM_000238.4(KCNH2):c.872T>G (p.Met291Arg) rs199472881

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