ClinVar Miner

List of variants in gene JPH2 reported as likely benign for Cardiovascular phenotype

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Gene type:
ClinVar version:
Total variants: 240
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HGVS dbSNP gnomAD frequency
NM_020433.5(JPH2):c.562C>T (p.Pro188Ser) rs574746149 0.00214
NM_020433.5(JPH2):c.856A>G (p.Thr286Ala) rs144022614 0.00183
NM_020433.5(JPH2):c.637C>T (p.Arg213Trp) rs767328866 0.00145
NM_020433.5(JPH2):c.642G>A (p.Ala214=) rs587780956 0.00128
NM_020433.5(JPH2):c.1971G>A (p.Glu657=) rs142333841 0.00099
NM_020433.5(JPH2):c.565G>A (p.Ala189Thr) rs730880254 0.00099
NM_020433.5(JPH2):c.128A>G (p.Asn43Ser) rs138992849 0.00068
NM_020433.5(JPH2):c.1137C>A (p.Ile379=) rs143158930 0.00046
NM_020433.5(JPH2):c.1704C>T (p.Ser568=) rs200892606 0.00046
NM_020433.5(JPH2):c.1380G>A (p.Ala460=) rs531877510 0.00044
NM_020433.5(JPH2):c.1410G>A (p.Pro470=) rs751126526 0.00035
NM_020433.5(JPH2):c.1107T>C (p.Ser369=) rs148311735 0.00033
NM_020433.5(JPH2):c.783G>C (p.Ala261=) rs201085317 0.00033
NM_020433.5(JPH2):c.1015G>A (p.Gly339Ser) rs368290474 0.00031
NM_020433.5(JPH2):c.1566G>A (p.Arg522=) rs559143345 0.00031
NM_020433.5(JPH2):c.648G>A (p.Lys216=) rs796219248 0.00029
NM_020433.5(JPH2):c.1233G>A (p.Glu411=) rs143061111 0.00026
NM_020433.5(JPH2):c.1808C>T (p.Pro603Leu) rs199845988 0.00024
NM_020433.5(JPH2):c.483G>A (p.Thr161=) rs746384802 0.00023
NM_020433.5(JPH2):c.1852A>G (p.Thr618Ala) rs376612687 0.00017
NM_020433.5(JPH2):c.2052C>T (p.Asn684=) rs779977095 0.00016
NM_020433.5(JPH2):c.579C>T (p.Pro193=) rs534491843 0.00014
NM_020433.5(JPH2):c.1185G>A (p.Lys395=) rs760586009 0.00011
NM_020433.5(JPH2):c.1581C>G (p.Ser527=) rs752533344 0.00011
NM_020433.5(JPH2):c.1896G>C (p.Glu632Asp) rs367563723 0.00010
NM_020433.5(JPH2):c.1272G>A (p.Pro424=) rs113719056 0.00009
NM_020433.5(JPH2):c.1552G>A (p.Gly518Ser) rs926337524 0.00009
NM_020433.5(JPH2):c.702G>A (p.Glu234=) rs539149173 0.00008
NM_020433.5(JPH2):c.996C>T (p.Pro332=) rs754651910 0.00008
NM_020433.5(JPH2):c.1826T>C (p.Leu609Pro) rs556546220 0.00007
NM_020433.5(JPH2):c.582C>T (p.Ala194=) rs565885872 0.00007
NM_020433.5(JPH2):c.819C>A (p.Ala273=) rs753387666 0.00007
NM_020433.5(JPH2):c.1375G>A (p.Ala459Thr) rs567872241 0.00006
NM_020433.5(JPH2):c.1731G>A (p.Glu577=) rs530433203 0.00006
NM_020433.5(JPH2):c.1771G>A (p.Gly591Arg) rs751914931 0.00006
NM_020433.5(JPH2):c.1977A>G (p.Ala659=) rs148093975 0.00006
NM_020433.5(JPH2):c.861C>T (p.Thr287=) rs565508885 0.00006
NM_020433.5(JPH2):c.1420G>A (p.Glu474Lys) rs1033476644 0.00005
NM_020433.5(JPH2):c.1433C>T (p.Pro478Leu) rs970525996 0.00005
NM_020433.5(JPH2):c.1658C>T (p.Ala553Val) rs200422043 0.00005
NM_020433.5(JPH2):c.1894G>A (p.Glu632Lys) rs200149713 0.00005
NM_020433.5(JPH2):c.1033G>C (p.Val345Leu) rs748233107 0.00004
NM_020433.5(JPH2):c.1212C>T (p.Ala404=) rs781376425 0.00004
NM_020433.5(JPH2):c.1348C>T (p.Leu450=) rs932394965 0.00004
NM_020433.5(JPH2):c.1395G>A (p.Pro465=) rs890379843 0.00004
NM_020433.5(JPH2):c.1476G>T (p.Pro492=) rs892497789 0.00004
NM_020433.5(JPH2):c.1974C>T (p.Ala658=) rs554320907 0.00004
NM_020433.5(JPH2):c.282C>T (p.Tyr94=) rs142377629 0.00004
NM_020433.5(JPH2):c.299C>T (p.Ser100Leu) rs145401873 0.00004
NM_020433.5(JPH2):c.531G>A (p.Pro177=) rs1057522198 0.00004
NM_020433.5(JPH2):c.576G>A (p.Ser192=) rs1397018944 0.00004
NM_020433.5(JPH2):c.601G>A (p.Ala201Thr) rs953581894 0.00004
NM_020433.5(JPH2):c.843C>T (p.Ala281=) rs151305680 0.00004
NM_020433.5(JPH2):c.1720A>G (p.Thr574Ala) rs773306912 0.00003
NM_020433.5(JPH2):c.1764G>A (p.Glu588=) rs941825157 0.00003
NM_020433.5(JPH2):c.1812G>T (p.Leu604=) rs780290036 0.00003
NM_020433.5(JPH2):c.1890A>G (p.Lys630=) rs764093410 0.00003
NM_020433.5(JPH2):c.234G>T (p.Gly78=) rs756407368 0.00003
NM_020433.5(JPH2):c.243C>T (p.Leu81=) rs760086204 0.00003
NM_020433.5(JPH2):c.327C>A (p.Thr109=) rs1245114185 0.00003
NM_020433.5(JPH2):c.405C>T (p.Asn135=) rs140538587 0.00003
NM_020433.5(JPH2):c.48G>T (p.Gly16=) rs917953744 0.00003
NM_020433.5(JPH2):c.537T>C (p.Ser179=) rs886038779 0.00003
NM_020433.5(JPH2):c.630G>T (p.Ala210=) rs1171848433 0.00003
NM_020433.5(JPH2):c.669G>A (p.Arg223=) rs1169464584 0.00003
NM_020433.5(JPH2):c.838G>A (p.Glu280Lys) rs748282723 0.00003
NM_020433.5(JPH2):c.1162G>A (p.Ala388Thr) rs200356989 0.00002
NM_020433.5(JPH2):c.1296A>G (p.Glu432=) rs1232184245 0.00002
NM_020433.5(JPH2):c.1344C>T (p.Ser448=) rs886038859 0.00002
NM_020433.5(JPH2):c.1440C>T (p.Pro480=) rs543997315 0.00002
NM_020433.5(JPH2):c.1497C>A (p.Pro499=) rs1441785257 0.00002
NM_020433.5(JPH2):c.1722G>A (p.Thr574=) rs769828263 0.00002
NM_020433.5(JPH2):c.1736C>T (p.Pro579Leu) rs953353202 0.00002
NM_020433.5(JPH2):c.1756G>A (p.Glu586Lys) rs1244082467 0.00002
NM_020433.5(JPH2):c.1851G>A (p.Glu617=) rs759468707 0.00002
NM_020433.5(JPH2):c.1863G>A (p.Lys621=) rs754623679 0.00002
NM_020433.5(JPH2):c.2055C>T (p.Ile685=) rs184307455 0.00002
NM_020433.5(JPH2):c.306C>T (p.Ser102=) rs779455211 0.00002
NM_020433.5(JPH2):c.30T>C (p.Asp10=) rs749155813 0.00002
NM_020433.5(JPH2):c.549G>A (p.Pro183=) rs1241788627 0.00002
NM_020433.5(JPH2):c.564C>T (p.Pro188=) rs2072600023 0.00002
NM_020433.5(JPH2):c.612C>T (p.Leu204=) rs922166422 0.00002
NM_020433.5(JPH2):c.633C>T (p.Ala211=) rs1372602717 0.00002
NM_020433.5(JPH2):c.735T>C (p.Arg245=) rs569709682 0.00002
NM_020433.5(JPH2):c.820G>A (p.Asp274Asn) rs376694047 0.00002
NM_020433.5(JPH2):c.1011G>A (p.Glu337=) rs1331312220 0.00001
NM_020433.5(JPH2):c.1041C>A (p.Val347=) rs1035583608 0.00001
NM_020433.5(JPH2):c.1058G>A (p.Arg353His) rs200674068 0.00001
NM_020433.5(JPH2):c.1140G>A (p.Ala380=) rs780588148 0.00001
NM_020433.5(JPH2):c.1161C>T (p.Ala387=) rs368697672 0.00001
NM_020433.5(JPH2):c.1203G>A (p.Ala401=) rs138017620 0.00001
NM_020433.5(JPH2):c.1314G>A (p.Leu438=) rs1359400957 0.00001
NM_020433.5(JPH2):c.1317G>A (p.Leu439=) rs1339404249 0.00001
NM_020433.5(JPH2):c.1353G>A (p.Glu451=) rs922344482 0.00001
NM_020433.5(JPH2):c.1359C>T (p.Pro453=) rs1199694555 0.00001
NM_020433.5(JPH2):c.1431C>T (p.Thr477=) rs1057524121 0.00001
NM_020433.5(JPH2):c.1455G>A (p.Pro485=) rs1471351418 0.00001
NM_020433.5(JPH2):c.1461G>A (p.Pro487=) rs781613132 0.00001
NM_020433.5(JPH2):c.147A>G (p.Ala49=) rs759479778 0.00001
NM_020433.5(JPH2):c.1485G>A (p.Lys495=) rs2072190382 0.00001
NM_020433.5(JPH2):c.1539C>T (p.Asn513=) rs1377444830 0.00001
NM_020433.5(JPH2):c.1551C>T (p.Ser517=) rs1295638660 0.00001
NM_020433.5(JPH2):c.1653G>A (p.Pro551=) rs774660703 0.00001
NM_020433.5(JPH2):c.1662G>A (p.Pro554=) rs748323930 0.00001
NM_020433.5(JPH2):c.1666C>G (p.Arg556Gly) rs1339089624 0.00001
NM_020433.5(JPH2):c.1671G>A (p.Glu557=) rs754665306 0.00001
NM_020433.5(JPH2):c.1674G>A (p.Pro558=) rs779915700 0.00001
NM_020433.5(JPH2):c.1677G>A (p.Glu559=) rs758352249 0.00001
NM_020433.5(JPH2):c.168C>T (p.Ser56=) rs748126772 0.00001
NM_020433.5(JPH2):c.1740C>A (p.Pro580=) rs779868269 0.00001
NM_020433.5(JPH2):c.1753C>T (p.Pro585Ser) rs745760392 0.00001
NM_020433.5(JPH2):c.1770C>T (p.Ser590=) rs755757325 0.00001
NM_020433.5(JPH2):c.1779G>A (p.Glu593=) rs561439318 0.00001
NM_020433.5(JPH2):c.1809G>A (p.Pro603=) rs752359114 0.00001
NM_020433.5(JPH2):c.1845A>C (p.Ala615=) rs766000819 0.00001
NM_020433.5(JPH2):c.1917G>A (p.Lys639=) rs1182800633 0.00001
NM_020433.5(JPH2):c.1932G>A (p.Gly644=) rs1037983273 0.00001
NM_020433.5(JPH2):c.1991C>T (p.Ala664Val) rs766295044 0.00001
NM_020433.5(JPH2):c.216G>T (p.Leu72=) rs1204338991 0.00001
NM_020433.5(JPH2):c.363G>A (p.Glu121=) rs753073876 0.00001
NM_020433.5(JPH2):c.384G>A (p.Thr128=) rs972983859 0.00001
NM_020433.5(JPH2):c.456C>T (p.Ala152=) rs557042688 0.00001
NM_020433.5(JPH2):c.458T>C (p.Val153Ala) rs776045429 0.00001
NM_020433.5(JPH2):c.45C>T (p.Cys15=) rs748073251 0.00001
NM_020433.5(JPH2):c.468C>G (p.Arg156=) rs553395930 0.00001
NM_020433.5(JPH2):c.492G>A (p.Ser164=) rs1412580937 0.00001
NM_020433.5(JPH2):c.495C>T (p.Ser165=) rs2072600997 0.00001
NM_020433.5(JPH2):c.540C>G (p.Pro180=) rs1055580234 0.00001
NM_020433.5(JPH2):c.567G>A (p.Ala189=) rs1343965129 0.00001
NM_020433.5(JPH2):c.620A>G (p.Asn207Ser) rs976272461 0.00001
NM_020433.5(JPH2):c.665A>G (p.Gln222Arg) rs766395991 0.00001
NM_020433.5(JPH2):c.687G>A (p.Lys229=) rs1372719506 0.00001
NM_020433.5(JPH2):c.705G>A (p.Ser235=) rs2072597944 0.00001
NM_020433.5(JPH2):c.714C>G (p.Ser238=) rs772581238 0.00001
NM_020433.5(JPH2):c.720T>C (p.Gly240=) rs1337351911 0.00001
NM_020433.5(JPH2):c.72T>C (p.His24=) rs754405775 0.00001
NM_020433.5(JPH2):c.810C>A (p.Ala270=) rs779680763 0.00001
NM_020433.5(JPH2):c.879C>T (p.Gly293=) rs1719372572 0.00001
NM_020433.5(JPH2):c.903G>A (p.Ser301=) rs1244243096 0.00001
NM_020433.5(JPH2):c.933C>T (p.Gly311=) rs1258829124 0.00001
NM_020433.5(JPH2):c.978T>C (p.Tyr326=) rs777461348 0.00001
NM_020433.5(JPH2):c.9G>A (p.Gly3=) rs1432629834 0.00001
NM_020433.5(JPH2):c.1020G>A (p.Lys340=) rs2515744289
NM_020433.5(JPH2):c.1041C>G (p.Val347=)
NM_020433.5(JPH2):c.1041C>T (p.Val347=) rs1035583608
NM_020433.5(JPH2):c.1077C>T (p.Ser359=) rs2515744192
NM_020433.5(JPH2):c.1128C>A (p.Ala376=) rs200272307
NM_020433.5(JPH2):c.1149G>A (p.Lys383=) rs754243118
NM_020433.5(JPH2):c.114C>T (p.Tyr38=) rs1555862424
NM_020433.5(JPH2):c.1161C>A (p.Ala387=) rs368697672
NM_020433.5(JPH2):c.1374C>A (p.Gly458=) rs1293380239
NM_020433.5(JPH2):c.1374C>T (p.Gly458=) rs1293380239
NM_020433.5(JPH2):c.1399C>T (p.Arg467Cys)
NM_020433.5(JPH2):c.1419C>T (p.His473=) rs1471827464
NM_020433.5(JPH2):c.1435C>A (p.Arg479=) rs1273688341
NM_020433.5(JPH2):c.1436G>A (p.Arg479Gln)
NM_020433.5(JPH2):c.1452C>T (p.Ser484=) rs2515718394
NM_020433.5(JPH2):c.1464C>A (p.Ala488=) rs1060499997
NM_020433.5(JPH2):c.1464C>G (p.Ala488=) rs1060499997
NM_020433.5(JPH2):c.1488G>A (p.Arg496=)
NM_020433.5(JPH2):c.1512C>T (p.Asp504=) rs2145838656
NM_020433.5(JPH2):c.1521G>A (p.Leu507=) rs2515718272
NM_020433.5(JPH2):c.1530C>T (p.Gly510=)
NM_020433.5(JPH2):c.1563C>T (p.Ser521=) rs2515718193
NM_020433.5(JPH2):c.1674G>T (p.Pro558=) rs779915700
NM_020433.5(JPH2):c.1689C>T (p.Tyr563=) rs757000497
NM_020433.5(JPH2):c.1725G>T (p.Pro575=) rs1395732861
NM_020433.5(JPH2):c.1726C>T (p.Pro576Ser) rs956983036
NM_020433.5(JPH2):c.1755C>T (p.Pro585=) rs756767545
NM_020433.5(JPH2):c.1776C>T (p.Ser592=) rs763485402
NM_020433.5(JPH2):c.1778A>G (p.Glu593Gly) rs1569180881
NM_020433.5(JPH2):c.1783G>A (p.Ala595Thr)
NM_020433.5(JPH2):c.1797G>C (p.Pro599=)
NM_020433.5(JPH2):c.180T>C (p.Phe60=)
NM_020433.5(JPH2):c.1836C>A (p.Pro612=) rs988341308
NM_020433.5(JPH2):c.1836C>G (p.Pro612=) rs988341308
NM_020433.5(JPH2):c.1857C>G (p.Pro619=) rs777183126
NM_020433.5(JPH2):c.1857C>T (p.Pro619=) rs777183126
NM_020433.5(JPH2):c.1869G>A (p.Glu623=) rs757784357
NM_020433.5(JPH2):c.1933C>T (p.Leu645=) rs1313876120
NM_020433.5(JPH2):c.1950C>A (p.Ala650=) rs997783314
NM_020433.5(JPH2):c.1950C>G (p.Ala650=) rs997783314
NM_020433.5(JPH2):c.1950C>T (p.Ala650=) rs997783314
NM_020433.5(JPH2):c.1958A>G (p.Lys653Arg)
NM_020433.5(JPH2):c.1992G>A (p.Ala664=) rs781384540
NM_020433.5(JPH2):c.2001G>A (p.Glu667=)
NM_020433.5(JPH2):c.2013C>G (p.Val671=) rs1381603149
NM_020433.5(JPH2):c.21C>T (p.Asp7=) rs2515765077
NM_020433.5(JPH2):c.234G>A (p.Gly78=)
NM_020433.5(JPH2):c.243C>G (p.Leu81=)
NM_020433.5(JPH2):c.249G>A (p.Lys83=) rs2515764213
NM_020433.5(JPH2):c.264T>C (p.His88=)
NM_020433.5(JPH2):c.276A>C (p.Gly92=)
NM_020433.5(JPH2):c.279C>T (p.Arg93=)
NM_020433.5(JPH2):c.285A>G (p.Gly95=)
NM_020433.5(JPH2):c.287T>C (p.Ile96Thr)
NM_020433.5(JPH2):c.291G>T (p.Arg97=) rs1421725460
NM_020433.5(JPH2):c.303C>T (p.Ser101=) rs1476594018
NM_020433.5(JPH2):c.348C>T (p.Asp116=) rs778483216
NM_020433.5(JPH2):c.360C>T (p.Thr120=) rs1395814897
NM_020433.5(JPH2):c.417T>C (p.His139=)
NM_020433.5(JPH2):c.426A>C (p.Gly142=)
NM_020433.5(JPH2):c.429A>G (p.Val143=)
NM_020433.5(JPH2):c.489G>C (p.Leu163=)
NM_020433.5(JPH2):c.522G>T (p.Thr174=) rs1478364803
NM_020433.5(JPH2):c.525G>A (p.Val175=) rs1255160215
NM_020433.5(JPH2):c.528C>T (p.Ala176=) rs2515745178
NM_020433.5(JPH2):c.537T>A (p.Ser179=) rs886038779
NM_020433.5(JPH2):c.537T>G (p.Ser179=)
NM_020433.5(JPH2):c.579C>A (p.Pro193=)
NM_020433.5(JPH2):c.579C>G (p.Pro193=)
NM_020433.5(JPH2):c.591T>C (p.Arg197=)
NM_020433.5(JPH2):c.614T>C (p.Leu205Pro)
NM_020433.5(JPH2):c.618C>A (p.Ala206=) rs1360359597
NM_020433.5(JPH2):c.621T>C (p.Asn207=)
NM_020433.5(JPH2):c.624C>G (p.Ala208=) rs398124358
NM_020433.5(JPH2):c.624C>T (p.Ala208=) rs398124358
NM_020433.5(JPH2):c.630G>A (p.Ala210=) rs1171848433
NM_020433.5(JPH2):c.633C>G (p.Ala211=)
NM_020433.5(JPH2):c.688C>T (p.Leu230=) rs2515744853
NM_020433.5(JPH2):c.711G>C (p.Thr237=) rs1041859682
NM_020433.5(JPH2):c.715G>C (p.Val239Leu) rs945791429
NM_020433.5(JPH2):c.732C>T (p.Ser244=) rs2145879221
NM_020433.5(JPH2):c.735T>A (p.Arg245=)
NM_020433.5(JPH2):c.747T>C (p.Leu249=) rs2515744777
NM_020433.5(JPH2):c.754G>A (p.Asp252Asn) rs777934295
NM_020433.5(JPH2):c.759C>T (p.Leu253=) rs2515744755
NM_020433.5(JPH2):c.765G>T (p.Ser255=) rs2515744749
NM_020433.5(JPH2):c.817G>A (p.Ala273Thr) rs371565133
NM_020433.5(JPH2):c.831A>C (p.Ala277=)
NM_020433.5(JPH2):c.831A>G (p.Ala277=) rs1378024703
NM_020433.5(JPH2):c.843C>A (p.Ala281=) rs151305680
NM_020433.5(JPH2):c.846T>C (p.Asp282=) rs976324787
NM_020433.5(JPH2):c.864C>T (p.Thr288=)
NM_020433.5(JPH2):c.891C>T (p.Asn297=) rs796364747
NM_020433.5(JPH2):c.897A>G (p.Lys299=) rs2515744481
NM_020433.5(JPH2):c.930T>C (p.Ser310=) rs1027675363
NM_020433.5(JPH2):c.972C>T (p.His324=) rs757316297
NM_020433.5(JPH2):c.981C>T (p.Gly327=) rs755614718
NM_020433.5(JPH2):c.982T>C (p.Cys328Arg) rs1439783795

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