ClinVar Miner

List of variants reported as not provided for not provided by Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 155
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg) rs1805124 0.24768
NM_000238.4(KCNH2):c.2690A>C (p.Lys897Thr) rs1805123 0.20300
NM_000335.5(SCN5A):c.100C>T (p.Arg34Cys) rs6791924 0.03086
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962 0.02208
NM_000335.5(SCN5A):c.1571C>A (p.Ser524Tyr) rs41313691 0.01184
NM_001148.6(ANK2):c.11218C>A (p.Leu3740Ile) rs35530544 0.01031
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128 0.00841
NM_000218.3(KCNQ1):c.1927G>A (p.Gly643Ser) rs1800172 0.00760
NM_000218.3(KCNQ1):c.1942G>A (p.Val648Ile) rs34150427 0.00734
NM_172201.2(KCNE2):c.25C>G (p.Gln9Glu) rs16991652 0.00468
NM_000218.3(KCNQ1):c.1222C>G (p.Pro408Ala) rs28730756 0.00447
NM_172201.2(KCNE2):c.22A>G (p.Thr8Ala) rs2234916 0.00387
NM_000335.5(SCN5A):c.1441C>T (p.Arg481Trp) rs144511230 0.00372
NM_000335.5(SCN5A):c.1381T>G (p.Leu461Val) rs41313697 0.00352
NM_000238.4(KCNH2):c.542G>A (p.Arg181Gln) rs41308954 0.00317
NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344 0.00222
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu) rs41311117 0.00192
NM_000335.5(SCN5A):c.1852C>T (p.Leu618Phe) rs45488304 0.00178
NM_000335.5(SCN5A):c.3919C>T (p.Leu1307Phe) rs41313031 0.00144
NM_000335.5(SCN5A):c.1967C>T (p.Pro656Leu) rs41313681 0.00115
NM_000335.5(SCN5A):c.6013C>G (p.Pro2005Ala) rs45489199 0.00109
NM_000218.3(KCNQ1):c.619G>A (p.Val207Met) rs75813654 0.00091
NM_000335.5(SCN5A):c.856G>T (p.Ala286Ser) rs61746118 0.00089
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_000335.5(SCN5A):c.3266C>T (p.Pro1089Leu) rs1805125 0.00071
NM_000335.5(SCN5A):c.5504T>C (p.Ile1835Thr) rs45563942 0.00066
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu) rs41276525 0.00065
NM_000238.4(KCNH2):c.982C>T (p.Arg328Cys) rs199473505 0.00063
NM_000335.5(SCN5A):c.5357G>A (p.Ser1786Asn) rs199473316 0.00063
NM_172201.2(KCNE2):c.170T>C (p.Ile57Thr) rs74315448 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.526C>T (p.Arg176Trp) rs36210422 0.00061
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn) rs12720457 0.00053
NM_000335.5(SCN5A):c.895T>A (p.Leu299Met) rs199473087 0.00053
NM_172201.2(KCNE2):c.40G>A (p.Val14Ile) rs142153692 0.00053
NM_000335.5(SCN5A):c.3875T>C (p.Phe1292Ser) rs41311127 0.00048
NM_000335.5(SCN5A):c.5708C>T (p.Ser1903Leu) rs150264233 0.00040
NM_000335.5(SCN5A):c.3748G>A (p.Val1250Met) rs199473600 0.00038
NM_000238.4(KCNH2):c.2900C>T (p.Pro967Leu) rs199473016 0.00037
NM_000218.3(KCNQ1):c.458C>T (p.Thr153Met) rs143709408 0.00036
NM_000719.7(CACNA1C):c.5639G>A (p.Arg1880Gln) rs182208896 0.00036
NM_000335.5(SCN5A):c.5870G>A (p.Arg1957Gln) rs199473331 0.00026
NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln) rs145229963 0.00025
NM_000218.3(KCNQ1):c.1861G>A (p.Gly621Ser) rs199472820 0.00024
NM_000219.6(KCNE1):c.206A>G (p.Lys69Arg) rs149338401 0.00024
NM_000335.5(SCN5A):c.1340C>G (p.Ala447Gly) rs199473113 0.00024
NM_000238.4(KCNH2):c.2729C>T (p.Pro910Leu) rs199473436 0.00023
NM_000238.4(KCNH2):c.707G>T (p.Gly236Val) rs199472870 0.00023
NM_001148.6(ANK2):c.4315G>T (p.Gly1439Cys) rs34591340 0.00023
NM_000238.4(KCNH2):c.2941A>G (p.Ser981Gly) rs76649554 0.00022
NM_000218.3(KCNQ1):c.1352G>A (p.Arg451Gln) rs199472781 0.00020
NM_000219.6(KCNE1):c.112A>G (p.Ser38Gly) rs1805127 0.00019
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys) rs45553235 0.00018
NM_000335.5(SCN5A):c.5901C>G (p.Ile1967Met) rs199473333 0.00018
NM_000219.6(KCNE1):c.325G>A (p.Val109Ile) rs77442996 0.00014
NM_000335.5(SCN5A):c.1425A>C (p.Arg475Ser) rs199473116 0.00014
NM_000218.3(KCNQ1):c.328G>A (p.Val110Ile) rs199472677 0.00009
NM_000238.4(KCNH2):c.3203A>G (p.Gln1068Arg) rs151031345 0.00009
NM_000335.5(SCN5A):c.2066G>A (p.Arg689His) rs199473145 0.00009
NM_000335.5(SCN5A):c.5686C>T (p.Arg1896Trp) rs45465995 0.00009
NM_000218.3(KCNQ1):c.584G>A (p.Arg195Gln) rs138362632 0.00008
NM_000335.5(SCN5A):c.3536C>T (p.Ala1179Val) rs41310765 0.00008
NM_000335.5(SCN5A):c.5882C>T (p.Pro1961Leu) rs199473638 0.00008
NM_000238.4(KCNH2):c.422C>T (p.Pro141Leu) rs199472864 0.00007
NM_000335.5(SCN5A):c.3118G>A (p.Gly1040Arg) rs199473186 0.00007
NM_000238.4(KCNH2):c.2932G>A (p.Glu978Lys) rs141117135 0.00006
NM_000335.5(SCN5A):c.101G>A (p.Arg34His) rs199473046 0.00006
NM_000335.5(SCN5A):c.3047C>T (p.Thr1016Met) rs199473185 0.00006
NM_000335.5(SCN5A):c.3343C>T (p.Arg1115Trp) rs199473196 0.00006
NM_000335.5(SCN5A):c.52C>T (p.Arg18Trp) rs199473044 0.00006
NM_000238.4(KCNH2):c.2750C>T (p.Pro917Leu) rs76420733 0.00005
NM_000335.5(SCN5A):c.1735G>A (p.Gly579Arg) rs199473128 0.00005
NM_000335.5(SCN5A):c.2957G>A (p.Arg986Gln) rs41313667 0.00005
NM_000218.3(KCNQ1):c.385G>A (p.Val129Ile) rs199472683 0.00004
NM_000218.3(KCNQ1):c.889G>A (p.Gly297Ser) rs34320941 0.00004
NM_000238.4(KCNH2):c.3109G>A (p.Asp1037Asn) rs199473023 0.00004
NM_000238.4(KCNH2):c.3164G>A (p.Arg1055Gln) rs41307270 0.00004
NM_000335.5(SCN5A):c.5969G>A (p.Arg1990Gln) rs199473336 0.00004
NM_000218.3(KCNQ1):c.1378G>A (p.Gly460Ser) rs199472783 0.00003
NM_000238.4(KCNH2):c.2624C>T (p.Thr875Met) rs140743924 0.00003
NM_000335.5(SCN5A):c.1703G>A (p.Arg568His) rs199473125 0.00003
NM_000335.5(SCN5A):c.3289G>T (p.Val1097Leu) rs199473191 0.00003
NM_000335.5(SCN5A):c.5752C>T (p.Arg1918Cys) rs199473328 0.00003
NM_000218.3(KCNQ1):c.1321C>T (p.Pro441Ser) rs199473475 0.00002
NM_000218.3(KCNQ1):c.878G>A (p.Arg293His) rs199473465 0.00002
NM_000218.3(KCNQ1):c.898G>A (p.Ala300Thr) rs120074187 0.00002
NM_000238.4(KCNH2):c.2903C>T (p.Pro968Leu) rs199473017 0.00002
NM_000238.4(KCNH2):c.3103C>T (p.Arg1035Trp) rs199473543 0.00002
NM_000238.4(KCNH2):c.3289G>A (p.Val1097Ile) rs199473030 0.00002
NM_000335.5(SCN5A):c.2014G>A (p.Ala672Thr) rs199473140 0.00002
NM_000335.5(SCN5A):c.3242T>C (p.Val1081Ala) rs199473189 0.00002
NM_000335.5(SCN5A):c.3316G>A (p.Glu1106Lys) rs199473193 0.00002
NM_000335.5(SCN5A):c.5960T>G (p.Leu1987Arg) rs145009013 0.00002
NM_000218.3(KCNQ1):c.1556G>A (p.Arg519His) rs199472788 0.00001
NM_000218.3(KCNQ1):c.541C>T (p.Arg181Cys) rs199473395 0.00001
NM_000238.4(KCNH2):c.1099A>T (p.Thr367Ser) rs199472890 0.00001
NM_000238.4(KCNH2):c.2744C>T (p.Ala915Val) rs199473437 0.00001
NM_000238.4(KCNH2):c.2893G>A (p.Gly965Arg) rs199473015 0.00001
NM_000238.4(KCNH2):c.2954A>G (p.Asn985Ser) rs199473541 0.00001
NM_000238.4(KCNH2):c.3355G>C (p.Glu1119Gln) rs199473033 0.00001
NM_000238.4(KCNH2):c.769A>C (p.Asn257His) rs199472875 0.00001
NM_000335.5(SCN5A):c.1345A>G (p.Thr449Ala) rs199473571 0.00001
NM_000335.5(SCN5A):c.1676C>T (p.Thr559Ile) rs199473575 0.00001
NM_000335.5(SCN5A):c.2114C>T (p.Ser705Phe) rs199473148 0.00001
NM_000335.5(SCN5A):c.2497G>A (p.Gly833Arg) rs45475899 0.00001
NM_000335.5(SCN5A):c.2770G>A (p.Val924Ile) rs199473177 0.00001
NM_000335.5(SCN5A):c.2911C>T (p.Arg971Cys) rs61737825 0.00001
NM_000335.5(SCN5A):c.2923C>T (p.Arg975Trp) rs41311135 0.00001
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp) rs137854602 0.00001
NM_000335.5(SCN5A):c.872A>G (p.Asn291Ser) rs199473563 0.00001
NM_001148.6(ANK2):c.5470T>C (p.Ser1824Pro) rs199473344 0.00001
NM_000218.3(KCNQ1):c.1003T>C (p.Phe335Leu) rs199472757
NM_000218.3(KCNQ1):c.1022C>T (p.Ala341Val) rs12720459
NM_000218.3(KCNQ1):c.1283A>G (p.Asp428Gly) rs199472779
NM_000218.3(KCNQ1):c.1343C>G (p.Pro448Arg) rs12720449
NM_000218.3(KCNQ1):c.1451G>C (p.Ser484Thr) rs199473477
NM_000218.3(KCNQ1):c.356G>A (p.Gly119Asp) rs199472680
NM_000218.3(KCNQ1):c.40C>T (p.Arg14Cys) rs199473444
NM_000218.3(KCNQ1):c.579T>A (p.Phe193Leu) rs199473454
NM_000219.6(KCNE1):c.115G>A (p.Asp39Asn) rs199473352
NM_000219.6(KCNE1):c.155G>C (p.Gly52Ala) rs17173509
NM_000219.6(KCNE1):c.202T>A (p.Ser68Thr) rs199473393
NM_000219.6(KCNE1):c.220T>G (p.Ser74Ala) rs199473357
NM_000219.6(KCNE1):c.235A>G (p.Asn79Asp) rs199473358
NM_000219.6(KCNE1):c.242A>T (p.Tyr81Phe) rs199473359
NM_000238.4(KCNH2):c.1332G>T (p.Glu444Asp) rs9770044
NM_000238.4(KCNH2):c.2167T>C (p.Cys723Arg) rs199472987
NM_000238.4(KCNH2):c.221C>T (p.Thr74Met) rs199473422
NM_000238.4(KCNH2):c.2773G>A (p.Gly925Arg) rs199473010
NM_000238.4(KCNH2):c.3140G>T (p.Arg1047Leu) rs36210421
NM_000238.4(KCNH2):c.3173C>A (p.Ala1058Glu) rs41313752
NM_000238.4(KCNH2):c.326T>G (p.Leu109Arg) rs199473498
NM_000238.4(KCNH2):c.3322C>G (p.Leu1108Val) rs199473031
NM_000238.4(KCNH2):c.3460G>A (p.Gly1154Ser) rs199473548
NM_000238.4(KCNH2):c.559G>A (p.Gly187Ser) rs199472867
NM_000238.4(KCNH2):c.607G>A (p.Ala203Thr) rs199472868
NM_000238.4(KCNH2):c.644T>G (p.Val215Gly) rs199473500
NM_000238.4(KCNH2):c.751C>G (p.Pro251Ala) rs199472873
NM_000238.4(KCNH2):c.762C>G (p.His254Gln) rs199473502
NM_000238.4(KCNH2):c.98A>C (p.Asn33Thr) rs199473487
NM_000335.5(SCN5A):c.1126C>T (p.Arg376Cys) rs199473100
NM_000335.5(SCN5A):c.1776C>A (p.Asn592Lys) rs199473130
NM_000335.5(SCN5A):c.1787A>G (p.Asp596Gly) rs199473131
NM_000335.5(SCN5A):c.1802T>C (p.Val601Ala) rs199473132
NM_000335.5(SCN5A):c.1913G>A (p.Gly638Asp) rs199473578
NM_000335.5(SCN5A):c.1940C>A (p.Ala647Asp) rs185638763
NM_000335.5(SCN5A):c.3615G>T (p.Trp1205Cys) rs199473203
NM_000335.5(SCN5A):c.5698G>A (p.Glu1900Lys) rs199473325
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_000335.5(SCN5A):c.6014C>T (p.Pro2005Leu) rs199473338
NM_001148.6(ANK2):c.7205T>C (p.Val2402Ala) rs199473345
NM_172201.2(KCNE2):c.166A>G (p.Met56Val) rs199473649
NM_172201.2(KCNE2):c.197C>T (p.Ala66Val) rs16991656

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.