ClinVar Miner

List of variants in gene KCNH2 reported as uncertain significance for Cardiovascular phenotype

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ClinVar version:
Total variants: 247
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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.2371C>T (p.Arg791Trp) rs138498207 0.00026
NM_000238.4(KCNH2):c.431A>T (p.Asp144Val) rs146284716 0.00016
NM_000238.4(KCNH2):c.3089C>T (p.Pro1030Leu) rs904066540 0.00011
NM_000238.4(KCNH2):c.2681G>A (p.Arg894His) rs199473668 0.00010
NM_000238.4(KCNH2):c.2944G>A (p.Asp982Asn) rs569452580 0.00010
NM_000238.4(KCNH2):c.865G>A (p.Glu289Lys) rs199472880 0.00009
NM_000238.4(KCNH2):c.889C>T (p.Pro297Ser) rs199472882 0.00008
NM_000238.4(KCNH2):c.934C>T (p.Arg312Cys) rs199472885 0.00008
NM_000238.4(KCNH2):c.2659C>T (p.Arg887Cys) rs140279503 0.00006
NM_000238.4(KCNH2):c.2696C>T (p.Thr899Met) rs1480554629 0.00005
NM_000238.4(KCNH2):c.491G>A (p.Arg164His) rs199472866 0.00005
NM_000238.4(KCNH2):c.115T>C (p.Cys39Arg) rs757491162 0.00004
NM_000238.4(KCNH2):c.1181G>A (p.Arg394His) rs781140785 0.00004
NM_000238.4(KCNH2):c.1307C>T (p.Thr436Met) rs199472901 0.00004
NM_000238.4(KCNH2):c.2717C>T (p.Ser906Leu) rs199473435 0.00004
NM_000238.4(KCNH2):c.2793G>A (p.Pro931=) rs200976506 0.00004
NM_000238.4(KCNH2):c.2860C>T (p.Arg954Cys) rs141401803 0.00004
NM_000238.4(KCNH2):c.2863C>G (p.Leu955Val) rs199473012 0.00004
NM_000238.4(KCNH2):c.3109G>A (p.Asp1037Asn) rs199473023 0.00004
NM_000238.4(KCNH2):c.3229G>A (p.Ala1077Thr) rs201382073 0.00004
NM_000238.4(KCNH2):c.823A>C (p.Ser275Arg) rs1268162009 0.00004
NM_000238.4(KCNH2):c.1067G>A (p.Arg356His) rs730880118 0.00003
NM_000238.4(KCNH2):c.1888G>A (p.Val630Ile) rs199472958 0.00003
NM_000238.4(KCNH2):c.2144C>T (p.Ala715Val) rs780656919 0.00003
NM_000238.4(KCNH2):c.2735G>A (p.Arg912Gln) rs958442820 0.00003
NM_000238.4(KCNH2):c.2753G>A (p.Ser918Asn) rs1268921735 0.00003
NM_000238.4(KCNH2):c.2770G>T (p.Gly924Trp) rs794728397 0.00003
NM_000238.4(KCNH2):c.2902C>G (p.Pro968Ala) rs753788508 0.00003
NM_000238.4(KCNH2):c.3072C>T (p.Asn1024=) rs781274793 0.00003
NM_000238.4(KCNH2):c.3224C>T (p.Pro1075Leu) rs199473028 0.00003
NM_000238.4(KCNH2):c.3247A>G (p.Thr1083Ala) rs751559990 0.00003
NM_000238.4(KCNH2):c.3365C>T (p.Pro1122Leu) rs531460655 0.00003
NM_000238.4(KCNH2):c.3430G>A (p.Ala1144Thr) rs199473034 0.00003
NM_000238.4(KCNH2):c.383A>G (p.Asn128Ser) rs200343670 0.00003
NM_000238.4(KCNH2):c.694C>T (p.Arg232Cys) rs956828658 0.00003
NM_000238.4(KCNH2):c.1189C>T (p.Arg397Cys) rs1060500663 0.00002
NM_000238.4(KCNH2):c.1459G>A (p.Gly487Ser) rs562875924 0.00002
NM_000238.4(KCNH2):c.1462C>T (p.Arg488Cys) rs281865155 0.00002
NM_000238.4(KCNH2):c.1742C>T (p.Ser581Leu) rs794728483 0.00002
NM_000238.4(KCNH2):c.2383G>A (p.Val795Ile) rs1002588450 0.00002
NM_000238.4(KCNH2):c.2641T>A (p.Phe881Ile) rs1197425750 0.00002
NM_000238.4(KCNH2):c.2648G>A (p.Arg883Gln) rs748821862 0.00002
NM_000238.4(KCNH2):c.3007G>A (p.Asp1003Asn) rs794728402 0.00002
NM_000238.4(KCNH2):c.3049G>T (p.Ala1017Ser) rs950543448 0.00002
NM_000238.4(KCNH2):c.3104G>A (p.Arg1035Gln) rs761933920 0.00002
NM_000238.4(KCNH2):c.3289G>A (p.Val1097Ile) rs199473030 0.00002
NM_000238.4(KCNH2):c.3457C>T (p.His1153Tyr) rs199473035 0.00002
NM_000238.4(KCNH2):c.398T>C (p.Met133Thr) rs794728353 0.00002
NM_000238.4(KCNH2):c.580G>A (p.Val194Met) rs1293129095 0.00002
NM_000238.4(KCNH2):c.983G>A (p.Arg328His) rs747437736 0.00002
NM_000238.4(KCNH2):c.1128+1810C>T rs972201049 0.00001
NM_000238.4(KCNH2):c.1190G>A (p.Arg397His) rs368817970 0.00001
NM_000238.4(KCNH2):c.138C>G (p.Asp46Glu) rs752503743 0.00001
NM_000238.4(KCNH2):c.1426G>A (p.Val476Ile) rs199472908 0.00001
NM_000238.4(KCNH2):c.1447G>A (p.Val483Ile) rs755834128 0.00001
NM_000238.4(KCNH2):c.1474C>T (p.His492Tyr) rs199472910 0.00001
NM_000238.4(KCNH2):c.1582C>T (p.Arg528Trp) rs864622403 0.00001
NM_000238.4(KCNH2):c.1781G>A (p.Gly594Asp) rs199472931 0.00001
NM_000238.4(KCNH2):c.2046G>C (p.Glu682Asp) rs1338579153 0.00001
NM_000238.4(KCNH2):c.2054G>A (p.Arg685His) rs758751607 0.00001
NM_000238.4(KCNH2):c.2080C>T (p.Arg694Cys) rs765717858 0.00001
NM_000238.4(KCNH2):c.2122A>G (p.Thr708Ala) rs1554425463 0.00001
NM_000238.4(KCNH2):c.2231G>A (p.Arg744Gln) rs1264176305 0.00001
NM_000238.4(KCNH2):c.2332G>A (p.Ala778Thr) rs769076001 0.00001
NM_000238.4(KCNH2):c.2350C>T (p.Arg784Trp) rs12720441 0.00001
NM_000238.4(KCNH2):c.2380G>A (p.Val794Ile) rs565006344 0.00001
NM_000238.4(KCNH2):c.2588G>A (p.Arg863Gln) rs939435672 0.00001
NM_000238.4(KCNH2):c.2606C>T (p.Pro869Leu) rs763031434 0.00001
NM_000238.4(KCNH2):c.2680C>T (p.Arg894Cys) rs199473433 0.00001
NM_000238.4(KCNH2):c.26C>T (p.Ala9Val) rs775317201 0.00001
NM_000238.4(KCNH2):c.2734C>T (p.Arg912Trp) rs577847157 0.00001
NM_000238.4(KCNH2):c.2956C>A (p.Pro986Thr) rs1261949255 0.00001
NM_000238.4(KCNH2):c.3019C>T (p.Arg1007Cys) rs1224504959 0.00001
NM_000238.4(KCNH2):c.3053C>T (p.Pro1018Leu) rs866657878 0.00001
NM_000238.4(KCNH2):c.3079C>A (p.Leu1027Ile) rs794728346 0.00001
NM_000238.4(KCNH2):c.3211A>G (p.Met1071Val) rs555797304 0.00001
NM_000238.4(KCNH2):c.3215C>T (p.Thr1072Met) rs781624566 0.00001
NM_000238.4(KCNH2):c.3251C>T (p.Pro1084Leu) rs762510312 0.00001
NM_000238.4(KCNH2):c.3314T>C (p.Leu1105Ser) rs757147615 0.00001
NM_000238.4(KCNH2):c.3320C>T (p.Ser1107Leu) rs1303580599 0.00001
NM_000238.4(KCNH2):c.3394C>G (p.Pro1132Ala) rs786205422 0.00001
NM_000238.4(KCNH2):c.3400C>T (p.Arg1134Ter) rs965259777 0.00001
NM_000238.4(KCNH2):c.343G>A (p.Val115Met) rs150988911 0.00001
NM_000238.4(KCNH2):c.3448C>A (p.Leu1150Met) rs754883792 0.00001
NM_000238.4(KCNH2):c.3453C>A (p.His1151Gln) rs531426751 0.00001
NM_000238.4(KCNH2):c.3469C>T (p.Pro1157Ser) rs1449906095 0.00001
NM_000238.4(KCNH2):c.38C>A (p.Thr13Asn) rs758978727 0.00001
NM_000238.4(KCNH2):c.449C>T (p.Pro150Leu) rs866485757 0.00001
NM_000238.4(KCNH2):c.473-5C>T rs1181633993 0.00001
NM_000238.4(KCNH2):c.476G>A (p.Arg159His) rs1016201425 0.00001
NM_000238.4(KCNH2):c.478G>T (p.Ala160Ser) rs1210130846 0.00001
NM_000238.4(KCNH2):c.563C>T (p.Ala188Val) rs794728356 0.00001
NM_000238.4(KCNH2):c.652A>G (p.Met218Val) rs199472869 0.00001
NM_000238.4(KCNH2):c.692G>A (p.Arg231Gln) rs1383803455 0.00001
NM_000238.4(KCNH2):c.736G>T (p.Gly246Cys) rs1057520689 0.00001
NM_000238.4(KCNH2):c.773C>T (p.Pro258Leu) rs1367019959 0.00001
NM_000238.4(KCNH2):c.779C>T (p.Ala260Val) rs1228602666 0.00001
NM_000238.4(KCNH2):c.877G>A (p.Ala293Thr) rs794728362 0.00001
NM_000238.4(KCNH2):c.916+3G>A rs1554427591 0.00001
NM_000238.4(KCNH2):c.935G>A (p.Arg312His) rs747313232 0.00001
NM_000238.4(KCNH2):c.976C>T (p.Arg326Cys) rs759079349 0.00001
NM_000238.4(KCNH2):c.1043T>A (p.Phe348Tyr) rs794728363
NM_000238.4(KCNH2):c.104G>C (p.Arg35Pro)
NM_000238.4(KCNH2):c.1123A>G (p.Thr375Ala) rs2116997162
NM_000238.4(KCNH2):c.1128+5G>A
NM_000238.4(KCNH2):c.1226T>A (p.Val409Glu) rs794728367
NM_000238.4(KCNH2):c.1396G>T (p.Asp466Tyr) rs199473511
NM_000238.4(KCNH2):c.1469C>T (p.Ala490Val) rs1801214475
NM_000238.4(KCNH2):c.1511C>A (p.Ala504Asp)
NM_000238.4(KCNH2):c.1525G>A (p.Asp509Asn) rs370637245
NM_000238.4(KCNH2):c.1583G>A (p.Arg528Gln) rs199472914
NM_000238.4(KCNH2):c.1603G>A (p.Val535Met) rs375872367
NM_000238.4(KCNH2):c.1652T>C (p.Phe551Ser) rs1057524535
NM_000238.4(KCNH2):c.1675C>T (p.Leu559Phe) rs794728374
NM_000238.4(KCNH2):c.167G>C (p.Arg56Pro)
NM_000238.4(KCNH2):c.1693G>T (p.Ala565Ser) rs199473518
NM_000238.4(KCNH2):c.1747A>C (p.Ile583Leu) rs199473427
NM_000238.4(KCNH2):c.1781G>T (p.Gly594Val)
NM_000238.4(KCNH2):c.1805T>C (p.Leu602Pro) rs876661348
NM_000238.4(KCNH2):c.1831T>A (p.Tyr611Asn)
NM_000238.4(KCNH2):c.1859G>A (p.Ser620Asn) rs1801161235
NM_000238.4(KCNH2):c.1869C>T (p.Thr623=)
NM_000238.4(KCNH2):c.1871G>A (p.Ser624Asn) rs777410293
NM_000238.4(KCNH2):c.1915A>G (p.Ile639Val)
NM_000238.4(KCNH2):c.1922C>A (p.Ser641Tyr) rs199472971
NM_000238.4(KCNH2):c.1926C>G (p.Ile642Met) rs1801154313
NM_000238.4(KCNH2):c.1943G>T (p.Gly648Val)
NM_000238.4(KCNH2):c.1946-5C>T
NM_000238.4(KCNH2):c.1965C>G (p.Ile655Met) rs774672362
NM_000238.4(KCNH2):c.1969G>A (p.Gly657Ser) rs199472978
NM_000238.4(KCNH2):c.1994G>A (p.Arg665Gln)
NM_000238.4(KCNH2):c.2003C>T (p.Ser668Leu)
NM_000238.4(KCNH2):c.2015G>A (p.Arg672His) rs745370146
NM_000238.4(KCNH2):c.2110G>A (p.Ala704Thr)
NM_000238.4(KCNH2):c.2134G>A (p.Asp712Asn)
NM_000238.4(KCNH2):c.2142C>G (p.Asn714Lys)
NM_000238.4(KCNH2):c.2145+3G>A rs1378166842
NM_000238.4(KCNH2):c.2145G>A (p.Ala715=) rs794728384
NM_000238.4(KCNH2):c.227G>T (p.Arg76Leu) rs868054429
NM_000238.4(KCNH2):c.2296G>A (p.Gly766Arg) rs1057524377
NM_000238.4(KCNH2):c.2329A>G (p.Thr777Ala)
NM_000238.4(KCNH2):c.2343C>G (p.Phe781Leu) rs886039215
NM_000238.4(KCNH2):c.2351G>A (p.Arg784Gln)
NM_000238.4(KCNH2):c.2351G>C (p.Arg784Pro)
NM_000238.4(KCNH2):c.2356T>C (p.Ser786Pro)
NM_000238.4(KCNH2):c.2366T>C (p.Ile789Thr) rs794728388
NM_000238.4(KCNH2):c.2387T>G (p.Val796Gly) rs1554425163
NM_000238.4(KCNH2):c.2390C>A (p.Ala797Asp) rs794728389
NM_000238.4(KCNH2):c.2410A>G (p.Ile804Val)
NM_000238.4(KCNH2):c.2417G>A (p.Gly806Glu) rs199473000
NM_000238.4(KCNH2):c.2435A>G (p.Tyr812Cys)
NM_000238.4(KCNH2):c.2459G>A (p.Gly820Glu)
NM_000238.4(KCNH2):c.2488C>G (p.Leu830Val)
NM_000238.4(KCNH2):c.2525T>C (p.Leu842Pro) rs1554424818
NM_000238.4(KCNH2):c.2564G>A (p.Ser855Asn) rs2116940209
NM_000238.4(KCNH2):c.2593-15_2593-5del
NM_000238.4(KCNH2):c.2594C>T (p.Thr865Ile) rs768059097
NM_000238.4(KCNH2):c.2607G>T (p.Pro869=) rs199828796
NM_000238.4(KCNH2):c.2608G>A (p.Gly870Ser)
NM_000238.4(KCNH2):c.2614C>A (p.Pro872Thr)
NM_000238.4(KCNH2):c.2616C>A (p.Pro872=) rs374296728
NM_000238.4(KCNH2):c.2635G>C (p.Gly879Arg) rs199473040
NM_000238.4(KCNH2):c.2647C>T (p.Arg883Trp) rs201765446
NM_000238.4(KCNH2):c.2654G>A (p.Arg885His) rs202194495
NM_000238.4(KCNH2):c.2666T>C (p.Leu889Ser)
NM_000238.4(KCNH2):c.2668_2670delinsCGCAAG (p.Ser890delinsArgLys)
NM_000238.4(KCNH2):c.2669C>G (p.Ser890Cys)
NM_000238.4(KCNH2):c.2672T>G (p.Phe891Cys)
NM_000238.4(KCNH2):c.2684C>A (p.Thr895Lys) rs199473434
NM_000238.4(KCNH2):c.2690delinsCGGACAC (p.Lys897delinsThrAspThr)
NM_000238.4(KCNH2):c.2696C>G (p.Thr899Arg) rs1480554629
NM_000238.4(KCNH2):c.2768C>A (p.Pro923Gln) rs760408746
NM_000238.4(KCNH2):c.2769_2771delinsAGC (p.Gly924Ala) rs1800969882
NM_000238.4(KCNH2):c.2770G>A (p.Gly924Arg) rs794728397
NM_000238.4(KCNH2):c.2771G>A (p.Gly924Glu) rs199473009
NM_000238.4(KCNH2):c.2774G>C (p.Gly925Ala) rs794728398
NM_000238.4(KCNH2):c.2774G>T (p.Gly925Val) rs794728398
NM_000238.4(KCNH2):c.2781G>T (p.Trp927Cys) rs866768546
NM_000238.4(KCNH2):c.2782G>C (p.Gly928Arg)
NM_000238.4(KCNH2):c.2804C>T (p.Pro935Leu)
NM_000238.4(KCNH2):c.284A>C (p.Glu95Ala) rs794728414
NM_000238.4(KCNH2):c.2853C>A (p.Ser951Arg) rs1443792370
NM_000238.4(KCNH2):c.2899C>T (p.Pro967Ser) rs1057450060
NM_000238.4(KCNH2):c.2908G>A (p.Gly970Arg) rs1800959537
NM_000238.4(KCNH2):c.2962T>G (p.Ser988Ala) rs747237810
NM_000238.4(KCNH2):c.296A>G (p.Tyr99Cys) rs199472854
NM_000238.4(KCNH2):c.298C>G (p.Arg100Gly) rs121912515
NM_000238.4(KCNH2):c.299G>C (p.Arg100Pro)
NM_000238.4(KCNH2):c.302A>G (p.Lys101Arg) rs2117062159
NM_000238.4(KCNH2):c.3049G>A (p.Ala1017Thr)
NM_000238.4(KCNH2):c.3061A>C (p.Ser1021Arg)
NM_000238.4(KCNH2):c.3092_3105delinsTC (p.Gly1031_Arg1035delinsVal)
NM_000238.4(KCNH2):c.3105_3107dup (p.Gly1036dup) rs794728469
NM_000238.4(KCNH2):c.3105_3112delinsAC (p.Gly1036_Val1038delinsLeu)
NM_000238.4(KCNH2):c.3112G>T (p.Val1038Leu) rs199473544
NM_000238.4(KCNH2):c.3140G>A (p.Arg1047His) rs36210421
NM_000238.4(KCNH2):c.314G>A (p.Cys105Tyr)
NM_000238.4(KCNH2):c.3153G>T (p.Arg1051Ser) rs1800920453
NM_000238.4(KCNH2):c.3163C>G (p.Arg1055Gly)
NM_000238.4(KCNH2):c.326T>A (p.Leu109Gln)
NM_000238.4(KCNH2):c.3311C>T (p.Thr1104Ile)
NM_000238.4(KCNH2):c.3344T>C (p.Met1115Thr)
NM_000238.4(KCNH2):c.3392G>A (p.Gly1131Asp)
NM_000238.4(KCNH2):c.3410C>A (p.Ser1137Tyr) rs1413026629
NM_000238.4(KCNH2):c.3445C>T (p.Pro1149Ser)
NM_000238.4(KCNH2):c.345GAA[1] (p.Lys116del) rs864622157
NM_000238.4(KCNH2):c.3460G>C (p.Gly1154Arg)
NM_000238.4(KCNH2):c.3478T>C (p.Ter1160Gln)
NM_000238.4(KCNH2):c.371T>C (p.Met124Thr) rs199472862
NM_000238.4(KCNH2):c.374T>G (p.Phe125Cys) rs199473499
NM_000238.4(KCNH2):c.387C>G (p.Phe129Leu) rs764831888
NM_000238.4(KCNH2):c.473-3C>T
NM_000238.4(KCNH2):c.47A>G (p.Asp16Gly)
NM_000238.4(KCNH2):c.521C>T (p.Thr174Met)
NM_000238.4(KCNH2):c.551GCGCGGGCG[3] (p.Gly189_Ala190insGlyAlaGly) rs551056698
NM_000238.4(KCNH2):c.553G>A (p.Ala185Thr) rs2117006639
NM_000238.4(KCNH2):c.567_575dup (p.Ala193_Val194insProGlyAla) rs1370496092
NM_000238.4(KCNH2):c.571C>G (p.Pro191Ala)
NM_000238.4(KCNH2):c.607G>A (p.Ala203Thr) rs199472868
NM_000238.4(KCNH2):c.617_618delinsTT (p.Ser206Ile) rs1060500660
NM_000238.4(KCNH2):c.629T>A (p.Leu210Gln)
NM_000238.4(KCNH2):c.663C>A (p.His221Gln)
NM_000238.4(KCNH2):c.682G>C (p.Ala228Pro) rs989191027
NM_000238.4(KCNH2):c.695G>T (p.Arg232Leu) rs886039160
NM_000238.4(KCNH2):c.712G>T (p.Gly238Cys) rs199473501
NM_000238.4(KCNH2):c.722C>T (p.Pro241Leu) rs199472871
NM_000238.4(KCNH2):c.729C>A (p.Ser243Arg)
NM_000238.4(KCNH2):c.730G>A (p.Ala244Thr)
NM_000238.4(KCNH2):c.731C>G (p.Ala244Gly) rs748762712
NM_000238.4(KCNH2):c.752C>T (p.Pro251Leu) rs1801446130
NM_000238.4(KCNH2):c.77-5C>T rs72549419
NM_000238.4(KCNH2):c.854C>T (p.Ala285Val) rs947793868
NM_000238.4(KCNH2):c.859G>A (p.Asp287Asn)
NM_000238.4(KCNH2):c.865G>C (p.Glu289Gln)
NM_000238.4(KCNH2):c.868G>C (p.Ala290Pro) rs532891158
NM_000238.4(KCNH2):c.872T>C (p.Met291Thr) rs199472881
NM_000238.4(KCNH2):c.883G>T (p.Val295Leu)
NM_000238.4(KCNH2):c.893C>T (p.Pro298Leu)
NM_000238.4(KCNH2):c.901C>A (p.Arg301Ser)
NM_000238.4(KCNH2):c.916+1G>A
NM_000238.4(KCNH2):c.923T>G (p.Met308Arg) rs372559632
NM_000238.4(KCNH2):c.941G>A (p.Gly314Asp) rs1801414464
NM_000238.4(KCNH2):c.980A>G (p.Tyr327Cys) rs886039013
NM_000238.4(KCNH2):c.985A>G (p.Thr329Ala) rs946110595
NM_000238.4(KCNH2):c.98A>C (p.Asn33Thr) rs199473487
NM_172057.2(KCNH2):c.2078_2080dup (p.Arg693_Pro694insArg) rs1060499872

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