ClinVar Miner

List of variants in gene JPH2 reported as uncertain significance by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 251
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HGVS dbSNP gnomAD frequency
NM_020433.5(JPH2):c.692G>A (p.Arg231Gln) rs761591158 0.00039
NM_020433.5(JPH2):c.1204G>A (p.Glu402Lys) rs147407445 0.00038
NM_020433.5(JPH2):c.1852A>G (p.Thr618Ala) rs376612687 0.00017
NM_020433.5(JPH2):c.1465G>A (p.Gly489Arg) rs1446439010 0.00015
NM_020433.5(JPH2):c.1357C>T (p.Pro453Ser) rs556886570 0.00013
NM_020433.5(JPH2):c.1732C>A (p.Pro578Thr) rs746846724 0.00010
NM_020433.5(JPH2):c.1896G>C (p.Glu632Asp) rs367563723 0.00010
NM_020433.5(JPH2):c.829G>T (p.Ala277Ser) rs368516996 0.00008
NM_020433.5(JPH2):c.1565G>A (p.Arg522Gln) rs980412081 0.00007
NM_020433.5(JPH2):c.1433C>T (p.Pro478Leu) rs970525996 0.00006
NM_020433.5(JPH2):c.1486C>T (p.Arg496Trp) rs863224775 0.00006
NM_020433.5(JPH2):c.349G>A (p.Gly117Ser) rs1414551155 0.00006
NM_020433.5(JPH2):c.1420G>A (p.Glu474Lys) rs1033476644 0.00005
NM_020433.5(JPH2):c.1894G>A (p.Glu632Lys) rs200149713 0.00005
NM_020433.5(JPH2):c.1149G>T (p.Lys383Asn) rs754243118 0.00004
NM_020433.5(JPH2):c.1202C>T (p.Ala401Val) rs774001072 0.00004
NM_020433.5(JPH2):c.1282C>T (p.Gln428Ter) rs199896820 0.00004
NM_020433.5(JPH2):c.1658C>T (p.Ala553Val) rs200422043 0.00004
NM_020433.5(JPH2):c.1787C>T (p.Pro596Leu) rs1376826403 0.00004
NM_020433.5(JPH2):c.2062G>A (p.Ala688Thr) rs540933939 0.00004
NM_020433.5(JPH2):c.299C>T (p.Ser100Leu) rs145401873 0.00004
NM_020433.5(JPH2):c.1180G>A (p.Ala394Thr) rs372515066 0.00003
NM_020433.5(JPH2):c.1363C>T (p.Arg455Trp) rs767514641 0.00003
NM_020433.5(JPH2):c.1577C>T (p.Pro526Leu) rs756327822 0.00003
NM_020433.5(JPH2):c.1640C>T (p.Ala547Val) rs772283505 0.00003
NM_020433.5(JPH2):c.1720A>G (p.Thr574Ala) rs773306912 0.00003
NM_020433.5(JPH2):c.1858G>A (p.Ala620Thr) rs769284597 0.00003
NM_020433.5(JPH2):c.1867G>C (p.Glu623Gln) rs750828996 0.00003
NM_020433.5(JPH2):c.457G>A (p.Val153Met) rs747722861 0.00003
NM_020433.5(JPH2):c.77A>G (p.His26Arg) rs141664528 0.00003
NM_020433.5(JPH2):c.8G>A (p.Gly3Glu) rs746138065 0.00003
NM_020433.5(JPH2):c.943G>A (p.Glu315Lys) rs768672949 0.00003
NM_020433.5(JPH2):c.1564C>T (p.Arg522Trp) rs770850932 0.00002
NM_020433.5(JPH2):c.1772G>T (p.Gly591Val) rs766721028 0.00002
NM_020433.5(JPH2):c.1790C>G (p.Ser597Trp) rs775179837 0.00002
NM_020433.5(JPH2):c.541G>A (p.Ala181Thr) rs1304705938 0.00002
NM_020433.5(JPH2):c.1141C>T (p.Arg381Cys) rs768172413 0.00001
NM_020433.5(JPH2):c.1142G>T (p.Arg381Leu) rs746668155 0.00001
NM_020433.5(JPH2):c.1238A>G (p.Asn413Ser) rs778937072 0.00001
NM_020433.5(JPH2):c.1240A>G (p.Ile414Val) rs537544755 0.00001
NM_020433.5(JPH2):c.1247G>T (p.Arg416Leu) rs190802013 0.00001
NM_020433.5(JPH2):c.1267G>T (p.Ala423Ser) rs753716480 0.00001
NM_020433.5(JPH2):c.1292C>T (p.Pro431Leu) rs1272859605 0.00001
NM_020433.5(JPH2):c.1306C>T (p.Arg436Cys) rs1326977511 0.00001
NM_020433.5(JPH2):c.1364G>A (p.Arg455Gln) rs1216784399 0.00001
NM_020433.5(JPH2):c.1394C>T (p.Pro465Leu) rs908189174 0.00001
NM_020433.5(JPH2):c.1436G>T (p.Arg479Leu) rs1229570054 0.00001
NM_020433.5(JPH2):c.1589C>T (p.Ala530Val) rs754961884 0.00001
NM_020433.5(JPH2):c.1729G>A (p.Glu577Lys) rs181096982 0.00001
NM_020433.5(JPH2):c.1750C>A (p.Gln584Lys) rs730880253 0.00001
NM_020433.5(JPH2):c.1753C>T (p.Pro585Ser) rs745760392 0.00001
NM_020433.5(JPH2):c.1781C>T (p.Ser594Phe) rs1036911295 0.00001
NM_020433.5(JPH2):c.1846C>T (p.Arg616Cys) rs543276833 0.00001
NM_020433.5(JPH2):c.1847G>T (p.Arg616Leu) rs200081425 0.00001
NM_020433.5(JPH2):c.1948G>A (p.Ala650Thr) rs111319388 0.00001
NM_020433.5(JPH2):c.1990G>A (p.Ala664Thr) rs886039086 0.00001
NM_020433.5(JPH2):c.1991C>T (p.Ala664Val) rs766295044 0.00001
NM_020433.5(JPH2):c.277C>T (p.Arg93Cys) rs747893109 0.00001
NM_020433.5(JPH2):c.302G>A (p.Ser101Asn) rs1281048375 0.00001
NM_020433.5(JPH2):c.421T>C (p.Tyr141His) rs387906897 0.00001
NM_020433.5(JPH2):c.443C>T (p.Pro148Leu) rs772582964 0.00001
NM_020433.5(JPH2):c.535T>C (p.Ser179Pro) rs1272379812 0.00001
NM_020433.5(JPH2):c.575C>T (p.Ser192Leu) rs1481973487 0.00001
NM_020433.5(JPH2):c.611T>G (p.Leu204Arg) rs1369796322 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.962A>G (p.Asn321Ser) rs373731005 0.00001
NM_020433.5(JPH2):c.968G>A (p.Arg323His) rs778739555 0.00001
NM_020433.5(JPH2):c.-4T>A
NM_020433.5(JPH2):c.1004A>G (p.His335Arg)
NM_020433.5(JPH2):c.1016G>A (p.Gly339Asp)
NM_020433.5(JPH2):c.101G>A (p.Gly34Asp)
NM_020433.5(JPH2):c.1022A>G (p.Tyr341Cys)
NM_020433.5(JPH2):c.1025G>A (p.Arg342His)
NM_020433.5(JPH2):c.1043A>G (p.Lys348Arg)
NM_020433.5(JPH2):c.1049C>A (p.Thr350Asn)
NM_020433.5(JPH2):c.1054C>T (p.Arg352Cys)
NM_020433.5(JPH2):c.1058G>A (p.Arg353His)
NM_020433.5(JPH2):c.1062G>C (p.Met354Ile) rs546800323
NM_020433.5(JPH2):c.1066C>T (p.Gln356Ter)
NM_020433.5(JPH2):c.1068G>T (p.Gln356His)
NM_020433.5(JPH2):c.1073A>G (p.Lys358Arg)
NM_020433.5(JPH2):c.107G>A (p.Gly36Asp)
NM_020433.5(JPH2):c.1081A>C (p.Lys361Gln)
NM_020433.5(JPH2):c.1081A>G (p.Lys361Glu)
NM_020433.5(JPH2):c.1083G>T (p.Lys361Asn) rs971528622
NM_020433.5(JPH2):c.1087C>T (p.Arg363Cys)
NM_020433.5(JPH2):c.1088G>A (p.Arg363His) rs757549568
NM_020433.5(JPH2):c.1103A>G (p.His368Arg)
NM_020433.5(JPH2):c.1109T>C (p.Val370Ala)
NM_020433.5(JPH2):c.1115G>A (p.Gly372Asp)
NM_020433.5(JPH2):c.1139C>T (p.Ala380Val)
NM_020433.5(JPH2):c.1142G>A (p.Arg381His)
NM_020433.5(JPH2):c.1148_1156del (p.Lys383_Glu385del)
NM_020433.5(JPH2):c.1171A>G (p.Thr391Ala)
NM_020433.5(JPH2):c.1213G>A (p.Ala405Thr) rs557878787
NM_020433.5(JPH2):c.1213G>T (p.Ala405Ser) rs557878787
NM_020433.5(JPH2):c.1232A>C (p.Glu411Ala)
NM_020433.5(JPH2):c.1235C>G (p.Ser412Cys) rs1004964815
NM_020433.5(JPH2):c.1243G>T (p.Ala415Ser)
NM_020433.5(JPH2):c.1249A>G (p.Thr417Ala)
NM_020433.5(JPH2):c.1309C>T (p.Arg437Trp)
NM_020433.5(JPH2):c.1321G>A (p.Glu441Lys)
NM_020433.5(JPH2):c.1322A>T (p.Glu441Val)
NM_020433.5(JPH2):c.1324A>G (p.Ile442Val)
NM_020433.5(JPH2):c.1328T>C (p.Leu443Pro)
NM_020433.5(JPH2):c.1360G>A (p.Asp454Asn)
NM_020433.5(JPH2):c.1367G>A (p.Gly456Asp)
NM_020433.5(JPH2):c.1379C>T (p.Ala460Val)
NM_020433.5(JPH2):c.1396C>T (p.Pro466Ser)
NM_020433.5(JPH2):c.1400G>A (p.Arg467His)
NM_020433.5(JPH2):c.1402G>A (p.Glu468Lys)
NM_020433.5(JPH2):c.1409C>T (p.Pro470Leu) rs1312283242
NM_020433.5(JPH2):c.1417C>T (p.His473Tyr)
NM_020433.5(JPH2):c.1423C>T (p.Arg475Cys)
NM_020433.5(JPH2):c.1438C>T (p.Pro480Ser)
NM_020433.5(JPH2):c.1441G>A (p.Glu481Lys)
NM_020433.5(JPH2):c.1460C>T (p.Pro487Leu)
NM_020433.5(JPH2):c.1477C>T (p.Gln493Ter) rs2072190444
NM_020433.5(JPH2):c.1487G>A (p.Arg496Gln) rs1404072085
NM_020433.5(JPH2):c.1523G>A (p.Ser508Asn)
NM_020433.5(JPH2):c.1550G>A (p.Ser517Asn)
NM_020433.5(JPH2):c.1551C>A (p.Ser517Arg) rs1295638660
NM_020433.5(JPH2):c.1552G>A (p.Gly518Ser)
NM_020433.5(JPH2):c.1598G>A (p.Arg533His)
NM_020433.5(JPH2):c.1603C>T (p.Pro535Ser) rs908217758
NM_020433.5(JPH2):c.1622A>G (p.Glu541Gly)
NM_020433.5(JPH2):c.1624C>T (p.Arg542Cys)
NM_020433.5(JPH2):c.1625G>A (p.Arg542His)
NM_020433.5(JPH2):c.1625G>T (p.Arg542Leu) rs369279135
NM_020433.5(JPH2):c.1648G>T (p.Ala550Ser)
NM_020433.5(JPH2):c.1655C>T (p.Pro552Leu) rs876657833
NM_020433.5(JPH2):c.1661C>T (p.Pro554Leu)
NM_020433.5(JPH2):c.1666C>G (p.Arg556Gly)
NM_020433.5(JPH2):c.1666C>T (p.Arg556Trp)
NM_020433.5(JPH2):c.1676A>C (p.Glu559Ala)
NM_020433.5(JPH2):c.1682C>T (p.Ala561Val)
NM_020433.5(JPH2):c.1689C>G (p.Tyr563Ter)
NM_020433.5(JPH2):c.1699dup (p.His567fs)
NM_020433.5(JPH2):c.1714C>T (p.Arg572Cys) rs377366285
NM_020433.5(JPH2):c.1724C>T (p.Pro575Leu) rs1310645221
NM_020433.5(JPH2):c.1736C>G (p.Pro579Arg)
NM_020433.5(JPH2):c.1754C>T (p.Pro585Leu)
NM_020433.5(JPH2):c.1756G>A (p.Glu586Lys)
NM_020433.5(JPH2):c.1759_1779dup (p.Pro587_Glu593dup) rs774773499
NM_020433.5(JPH2):c.1772_1777dup (p.Ser592_Glu593insGlySer)
NM_020433.5(JPH2):c.1778A>G (p.Glu593Gly) rs1569180881
NM_020433.5(JPH2):c.1796C>G (p.Pro599Arg)
NM_020433.5(JPH2):c.1796C>T (p.Pro599Leu)
NM_020433.5(JPH2):c.1799C>G (p.Ala600Gly) rs1555853297
NM_020433.5(JPH2):c.1804G>A (p.Ala602Thr)
NM_020433.5(JPH2):c.1813C>G (p.Gln605Glu)
NM_020433.5(JPH2):c.1823C>A (p.Thr608Lys) rs750776027
NM_020433.5(JPH2):c.1837G>A (p.Glu613Lys)
NM_020433.5(JPH2):c.1844C>T (p.Ala615Val)
NM_020433.5(JPH2):c.1853C>A (p.Thr618Asn)
NM_020433.5(JPH2):c.1861A>G (p.Lys621Glu)
NM_020433.5(JPH2):c.1900A>G (p.Arg634Gly)
NM_020433.5(JPH2):c.1903G>C (p.Ala635Pro) rs1409841420
NM_020433.5(JPH2):c.1924G>A (p.Ala642Thr)
NM_020433.5(JPH2):c.1928G>C (p.Arg643Pro)
NM_020433.5(JPH2):c.1937C>G (p.Thr646Ser) rs1600828763
NM_020433.5(JPH2):c.1951AAG[2] (p.Lys653del) rs111666278
NM_020433.5(JPH2):c.1958A>C (p.Lys653Thr)
NM_020433.5(JPH2):c.1961C>G (p.Ala654Gly)
NM_020433.5(JPH2):c.1963C>T (p.Arg655Trp)
NM_020433.5(JPH2):c.1964G>A (p.Arg655Gln) rs1569180563
NM_020433.5(JPH2):c.1982C>T (p.Ala661Val)
NM_020433.5(JPH2):c.1984G>T (p.Ala662Ser)
NM_020433.5(JPH2):c.1987G>C (p.Glu663Gln) rs886039170
NM_020433.5(JPH2):c.1990G>T (p.Ala664Ser)
NM_020433.5(JPH2):c.2010+5G>C
NM_020433.5(JPH2):c.2011G>A (p.Val671Ile)
NM_020433.5(JPH2):c.2015C>T (p.Pro672Leu)
NM_020433.5(JPH2):c.2021C>T (p.Thr674Ile)
NM_020433.5(JPH2):c.202A>C (p.Lys68Gln)
NM_020433.5(JPH2):c.2056G>A (p.Gly686Ser)
NM_020433.5(JPH2):c.205C>T (p.Arg69Trp)
NM_020433.5(JPH2):c.2073_2074inv (p.Val692Ile)
NM_020433.5(JPH2):c.2074G>A (p.Val692Ile)
NM_020433.5(JPH2):c.2078A>T (p.His693Leu)
NM_020433.5(JPH2):c.2083_2084del (p.Leu695fs)
NM_020433.5(JPH2):c.235C>A (p.Arg79Ser)
NM_020433.5(JPH2):c.23T>C (p.Phe8Ser) rs2072848592
NM_020433.5(JPH2):c.245A>G (p.Tyr82Cys) rs774330827
NM_020433.5(JPH2):c.253G>A (p.Glu85Lys)
NM_020433.5(JPH2):c.266G>A (p.Gly89Asp)
NM_020433.5(JPH2):c.272A>G (p.Lys91Arg)
NM_020433.5(JPH2):c.283G>A (p.Gly95Arg)
NM_020433.5(JPH2):c.304A>T (p.Ser102Cys)
NM_020433.5(JPH2):c.307G>T (p.Gly103Cys)
NM_020433.5(JPH2):c.316T>C (p.Tyr106His)
NM_020433.5(JPH2):c.349_351del (p.Gly117del) rs1351653670
NM_020433.5(JPH2):c.350G>A (p.Gly117Asp) rs1289294595
NM_020433.5(JPH2):c.361G>A (p.Glu121Lys) rs1569226231
NM_020433.5(JPH2):c.363G>T (p.Glu121Asp)
NM_020433.5(JPH2):c.370G>A (p.Ala124Thr)
NM_020433.5(JPH2):c.373G>A (p.Asp125Asn)
NM_020433.5(JPH2):c.421T>A (p.Tyr141Asn)
NM_020433.5(JPH2):c.424G>A (p.Gly142Arg)
NM_020433.5(JPH2):c.424G>T (p.Gly142Ter) rs765874503
NM_020433.5(JPH2):c.430C>T (p.Arg144Cys)
NM_020433.5(JPH2):c.431G>A (p.Arg144His) rs1167554487
NM_020433.5(JPH2):c.448G>C (p.Gly150Arg) rs1231304653
NM_020433.5(JPH2):c.464T>C (p.Val155Ala) rs2072601326
NM_020433.5(JPH2):c.470C>T (p.Ser157Leu)
NM_020433.5(JPH2):c.476T>A (p.Leu159Gln) rs886038834
NM_020433.5(JPH2):c.479G>A (p.Arg160His)
NM_020433.5(JPH2):c.499C>T (p.Arg167Cys)
NM_020433.5(JPH2):c.50G>T (p.Gly17Val)
NM_020433.5(JPH2):c.517G>T (p.Gly173Cys)
NM_020433.5(JPH2):c.52T>A (p.Trp18Arg)
NM_020433.5(JPH2):c.547C>G (p.Pro183Ala)
NM_020433.5(JPH2):c.560G>A (p.Gly187Asp)
NM_020433.5(JPH2):c.57G>T (p.Glu19Asp)
NM_020433.5(JPH2):c.580G>T (p.Ala194Ser) rs914203878
NM_020433.5(JPH2):c.589C>T (p.Arg197Cys)
NM_020433.5(JPH2):c.58G>C (p.Gly20Arg)
NM_020433.5(JPH2):c.58G>T (p.Gly20Trp)
NM_020433.5(JPH2):c.590G>T (p.Arg197Leu) rs1258920337
NM_020433.5(JPH2):c.591_593dup (p.Gly199_Phe200insGly)
NM_020433.5(JPH2):c.595G>A (p.Gly199Ser)
NM_020433.5(JPH2):c.599T>C (p.Phe200Ser)
NM_020433.5(JPH2):c.629C>A (p.Ala210Glu)
NM_020433.5(JPH2):c.632C>T (p.Ala211Val)
NM_020433.5(JPH2):c.643C>G (p.Pro215Ala)
NM_020433.5(JPH2):c.649G>A (p.Gly217Ser) rs1346458604
NM_020433.5(JPH2):c.652G>A (p.Gly218Ser)
NM_020433.5(JPH2):c.655G>A (p.Gly219Ser)
NM_020433.5(JPH2):c.658C>T (p.Leu220Phe)
NM_020433.5(JPH2):c.67G>A (p.Ala23Thr)
NM_020433.5(JPH2):c.68C>T (p.Ala23Val)
NM_020433.5(JPH2):c.713C>T (p.Ser238Phe)
NM_020433.5(JPH2):c.736G>A (p.Val246Ile)
NM_020433.5(JPH2):c.752G>A (p.Ser251Asn)
NM_020433.5(JPH2):c.753C>G (p.Ser251Arg)
NM_020433.5(JPH2):c.758T>A (p.Leu253His)
NM_020433.5(JPH2):c.775G>A (p.Asp259Asn)
NM_020433.5(JPH2):c.791C>G (p.Ala264Gly)
NM_020433.5(JPH2):c.800G>A (p.Gly267Glu)
NM_020433.5(JPH2):c.817G>A (p.Ala273Thr)
NM_020433.5(JPH2):c.823G>A (p.Glu275Lys)
NM_020433.5(JPH2):c.823G>C (p.Glu275Gln)
NM_020433.5(JPH2):c.852C>A (p.Asp284Glu) rs747209399
NM_020433.5(JPH2):c.862A>G (p.Thr288Ala)
NM_020433.5(JPH2):c.869C>T (p.Thr290Ile) rs757257639
NM_020433.5(JPH2):c.880G>A (p.Glu294Lys)
NM_020433.5(JPH2):c.919G>A (p.Glu307Lys) rs866434937
NM_020433.5(JPH2):c.92G>A (p.Gly31Asp) rs1569226648
NM_020433.5(JPH2):c.931G>A (p.Gly311Ser)
NM_020433.5(JPH2):c.949G>A (p.Glu317Lys) rs1054295023

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