ClinVar Miner

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

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Gene type:
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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000238.4(KCNH2):c.1539C>T (p.Phe513=) rs1805120 0.25427
NM_000238.4(KCNH2):c.*15G>A rs41313746 0.01245
NM_000238.4(KCNH2):c.1558-5C>T rs114186001 0.00642
NM_000238.4(KCNH2):c.3152+12C>A rs72549420 0.00293
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.1129-18C>T rs78794789 0.00156
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.1528C>T (p.Leu510=) rs75648145 0.00085
NM_000238.4(KCNH2):c.51C>G (p.Thr17=) rs144338227 0.00083
NM_000238.4(KCNH2):c.2617G>A (p.Gly873Ser) rs41314354 0.00079
NM_000238.4(KCNH2):c.2145+16C>T rs41314369 0.00078
NM_000238.4(KCNH2):c.568G>A (p.Ala190Thr) rs150817714 0.00076
NM_000238.4(KCNH2):c.3366G>A (p.Pro1122=) rs371473271 0.00029
NM_000238.4(KCNH2):c.1635C>T (p.Tyr545=) rs200692436 0.00009
NM_000238.4(KCNH2):c.2331C>T (p.Thr777=) rs41307292 0.00002
NM_000238.4(KCNH2):c.1320G>T (p.Pro440=) rs144926928
NM_000238.4(KCNH2):c.3140G>T (p.Arg1047Leu) rs36210421
NM_000238.4(KCNH2):c.3331-13GT[2] rs41313749
NM_000238.4(KCNH2):c.551GCGCGGGCG[1] (p.184GAG[1]) rs551056698

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