ClinVar Miner

Variants in gene KCNH2 with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 83
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HGVS dbSNP gnomAD frequency
NM_000238.4(KCNH2):c.1332G>A (p.Glu444=) rs9770044 0.01204
NM_000238.4(KCNH2):c.1558-5C>T rs114186001 0.00642
NM_000238.4(KCNH2):c.*190C>T rs41313143 0.00377
NM_000238.4(KCNH2):c.542G>A (p.Arg181Gln) rs41308954 0.00317
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.3133C>T (p.Leu1045Phe) rs199473025 0.00098
NM_000238.4(KCNH2):c.1563C>T (p.Ile521=) rs143011005 0.00097
NM_000238.4(KCNH2):c.1581G>A (p.Ala527=) rs150275982 0.00096
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.2398+178C>T rs41314366 0.00080
NM_000238.4(KCNH2):c.2617G>A (p.Gly873Ser) rs41314354 0.00079
NM_000238.4(KCNH2):c.568G>A (p.Ala190Thr) rs150817714 0.00076
NM_000238.4(KCNH2):c.1353G>A (p.Pro451=) rs763446458 0.00067
NM_000238.4(KCNH2):c.982C>T (p.Arg328Cys) rs199473505 0.00063
NM_000238.4(KCNH2):c.442C>T (p.Arg148Trp) rs139544114 0.00062
NM_000238.4(KCNH2):c.1039C>T (p.Pro347Ser) rs138776684 0.00061
NM_000238.4(KCNH2):c.2965+14C>T rs201706355 0.00040
NM_000238.4(KCNH2):c.1128+1865C>T rs200324802 0.00038
NM_000238.4(KCNH2):c.2900C>T (p.Pro967Leu) rs199473016 0.00037
NM_000238.4(KCNH2):c.2454G>A (p.Ser818=) rs72549418 0.00029
NM_000238.4(KCNH2):c.3063C>T (p.Ser1021=) rs199767579 0.00029
NM_000238.4(KCNH2):c.3366G>A (p.Pro1122=) rs371473271 0.00029
NM_000238.4(KCNH2):c.2729C>T (p.Pro910Leu) rs199473436 0.00023
NM_000238.4(KCNH2):c.697G>T (p.Ala233Ser) rs772037564 0.00023
NM_000238.4(KCNH2):c.2398+16C>T rs201873431 0.00022
NM_000238.4(KCNH2):c.441C>T (p.His147=) rs143479939 0.00021
NM_000238.4(KCNH2):c.1923C>T (p.Ser641=) rs142249065 0.00019
NM_000238.4(KCNH2):c.1128+1811G>A rs41313083 0.00018
NM_000238.4(KCNH2):c.3321G>A (p.Ser1107=) rs189457419 0.00017
NM_000238.4(KCNH2):c.3348G>A (p.Ala1116=) rs376180501 0.00012
NM_000238.4(KCNH2):c.3390A>G (p.Glu1130=) rs41313068 0.00010
NM_000238.4(KCNH2):c.1284G>A (p.Ser428=) rs371864051 0.00009
NM_000238.4(KCNH2):c.1635C>T (p.Tyr545=) rs200692436 0.00009
NM_000238.4(KCNH2):c.1800C>T (p.Ser600=) rs143518632 0.00009
NM_000238.4(KCNH2):c.2145+9A>T rs371749379 0.00009
NM_000238.4(KCNH2):c.2398+179G>A rs373927190 0.00009
NM_000238.4(KCNH2):c.3228C>T (p.Pro1076=) rs41312087 0.00009
NM_000238.4(KCNH2):c.1437C>T (p.Asn479=) rs188818227 0.00008
NM_000238.4(KCNH2):c.2904G>A (p.Pro968=) rs75005975 0.00008
NM_000238.4(KCNH2):c.2376C>T (p.Gly792=) rs745993706 0.00007
NM_000238.4(KCNH2):c.422C>T (p.Pro141Leu) rs199472864 0.00007
NM_000238.4(KCNH2):c.1683G>A (p.Ala561=) rs140366118 0.00006
NM_000238.4(KCNH2):c.3048C>T (p.Pro1016=) rs770968269 0.00006
NM_000238.4(KCNH2):c.3216G>A (p.Thr1072=) rs200182770 0.00006
NM_000238.4(KCNH2):c.342C>T (p.Pro114=) rs532959204 0.00006
NM_000238.4(KCNH2):c.2361C>T (p.Ile787=) rs147635827 0.00004
NM_000238.4(KCNH2):c.2994C>T (p.Phe998=) rs368954514 0.00004
NM_000238.4(KCNH2):c.3164G>A (p.Arg1055Gln) rs41307270 0.00004
NM_000238.4(KCNH2):c.783G>A (p.Ser261=) rs769470521 0.00004
NM_000238.4(KCNH2):c.1887C>T (p.Asn629=) rs41307295 0.00003
NM_000238.4(KCNH2):c.2607G>A (p.Pro869=) rs199828796 0.00003
NM_000238.4(KCNH2):c.3153-4C>T rs181119727 0.00003
NM_000238.4(KCNH2):c.1149C>T (p.Asp383=) rs201995634 0.00002
NM_000238.4(KCNH2):c.1558-6C>T rs777107971 0.00002
NM_000238.4(KCNH2):c.1572G>A (p.Leu524=) rs372089646 0.00002
NM_000238.4(KCNH2):c.2331C>T (p.Thr777=) rs41307292 0.00002
NM_000238.4(KCNH2):c.351C>T (p.Asn117=) rs757132095 0.00002
NM_000238.4(KCNH2):c.817C>A (p.Arg273=) rs552583527 0.00002
NM_000238.4(KCNH2):c.939C>T (p.Ser313=) rs778439539 0.00002
NM_000238.4(KCNH2):c.1035C>T (p.Gly345=) rs576125279 0.00001
NM_000238.4(KCNH2):c.2133C>T (p.Ile711=) rs562349092 0.00001
NM_000238.4(KCNH2):c.276C>T (p.Arg92=) rs753629014 0.00001
NM_000238.4(KCNH2):c.2778G>A (p.Pro926=) rs898987242 0.00001
NM_000238.4(KCNH2):c.473-6C>T rs751673669 0.00001
NM_000238.4(KCNH2):c.930A>G (p.Pro310=) rs745496986 0.00001
NM_000238.4(KCNH2):c.-29GGCCCGCCC[1] rs754605400
NM_000238.4(KCNH2):c.1056C>T (p.Pro352=) rs1554427342
NM_000238.4(KCNH2):c.1320G>T (p.Pro440=) rs144926928
NM_000238.4(KCNH2):c.1680C>T (p.Ile560=) rs372725107
NM_000238.4(KCNH2):c.2217C>T (p.His739=) rs2116950393
NM_000238.4(KCNH2):c.2398+105del rs546898924
NM_000238.4(KCNH2):c.2692+7C>G rs372023163
NM_000238.4(KCNH2):c.300G>T (p.Arg100=) rs761176105
NM_000238.4(KCNH2):c.3090G>C (p.Pro1030=) rs778604642
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
NM_000238.4(KCNH2):c.77-5C>G rs72549419

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