ClinVar Miner

List of variants in gene JPH2 reported as uncertain significance by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 300
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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.1271C>T (p.Pro424Leu) rs375446898 0.00013
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.1033G>C (p.Val345Leu) rs748233107 0.00004
NM_020433.5(JPH2):c.1202C>T (p.Ala401Val) rs774001072 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.1078A>C (p.Asn360His) rs747676827 0.00003
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.1715G>A (p.Arg572His) rs763423903 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.1564C>T (p.Arg522Trp) rs770850932 0.00002
NM_020433.5(JPH2):c.1736C>T (p.Pro579Leu) rs953353202 0.00002
NM_020433.5(JPH2):c.1772G>T (p.Gly591Val) rs766721028 0.00002
NM_020433.5(JPH2):c.1777G>A (p.Glu593Lys) rs1160134535 0.00002
NM_020433.5(JPH2):c.1790C>G (p.Ser597Trp) rs775179837 0.00002
NM_020433.5(JPH2):c.1951A>G (p.Lys651Glu) rs778410296 0.00002
NM_020433.5(JPH2):c.541G>A (p.Ala181Thr) rs1304705938 0.00002
NM_020433.5(JPH2):c.1057C>T (p.Arg353Cys) rs749245252 0.00001
NM_020433.5(JPH2):c.1132G>A (p.Ala378Thr) rs770866282 0.00001
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.1175G>A (p.Ser392Asn) rs148621426 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.1394C>T (p.Pro465Leu) rs908189174 0.00001
NM_020433.5(JPH2):c.1430C>G (p.Thr477Ser) rs1442070249 0.00001
NM_020433.5(JPH2):c.1436G>T (p.Arg479Leu) rs1229570054 0.00001
NM_020433.5(JPH2):c.1460C>A (p.Pro487Gln) rs1413584228 0.00001
NM_020433.5(JPH2):c.1508A>G (p.Lys503Arg) rs1457124939 0.00001
NM_020433.5(JPH2):c.1589C>T (p.Ala530Val) rs754961884 0.00001
NM_020433.5(JPH2):c.1603C>A (p.Pro535Thr) rs908217758 0.00001
NM_020433.5(JPH2):c.1690C>T (p.Gln564Ter) rs1185542895 0.00001
NM_020433.5(JPH2):c.1718C>T (p.Thr573Ile) rs1316615185 0.00001
NM_020433.5(JPH2):c.1727C>T (p.Pro576Leu) rs1381167166 0.00001
NM_020433.5(JPH2):c.1729G>A (p.Glu577Lys) rs181096982 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.1838A>G (p.Glu613Gly) rs753914193 0.00001
NM_020433.5(JPH2):c.1846C>T (p.Arg616Cys) rs543276833 0.00001
NM_020433.5(JPH2):c.1862A>G (p.Lys621Arg) rs2072184846 0.00001
NM_020433.5(JPH2):c.1901G>A (p.Arg634Lys) rs759806993 0.00001
NM_020433.5(JPH2):c.1948G>A (p.Ala650Thr) rs111319388 0.00001
NM_020433.5(JPH2):c.1982C>A (p.Ala661Glu) rs1026714361 0.00001
NM_020433.5(JPH2):c.1991C>T (p.Ala664Val) rs766295044 0.00001
NM_020433.5(JPH2):c.220A>G (p.Ile74Val) rs1197530646 0.00001
NM_020433.5(JPH2):c.226A>G (p.Thr76Ala) rs764474492 0.00001
NM_020433.5(JPH2):c.277C>T (p.Arg93Cys) rs747893109 0.00001
NM_020433.5(JPH2):c.290G>A (p.Arg97Gln) rs1188450169 0.00001
NM_020433.5(JPH2):c.302G>A (p.Ser101Asn) rs1281048375 0.00001
NM_020433.5(JPH2):c.385T>G (p.Tyr129Asp) rs777856415 0.00001
NM_020433.5(JPH2):c.406G>A (p.Gly136Ser) rs767281714 0.00001
NM_020433.5(JPH2):c.443C>T (p.Pro148Leu) rs772582964 0.00001
NM_020433.5(JPH2):c.458T>C (p.Val153Ala) rs776045429 0.00001
NM_020433.5(JPH2):c.515A>G (p.Asn172Ser) rs1170915460 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.641C>A (p.Ala214Glu) rs952147058 0.00001
NM_020433.5(JPH2):c.655G>T (p.Gly219Cys) rs1251565277 0.00001
NM_020433.5(JPH2):c.665A>G (p.Gln222Arg) rs766395991 0.00001
NM_020433.5(JPH2):c.723C>G (p.Ser241Arg) rs587782952 0.00001
NM_020433.5(JPH2):c.769G>A (p.Ala257Thr) rs866617430 0.00001
NM_020433.5(JPH2):c.782C>T (p.Ala261Val) rs2072597044 0.00001
NM_020433.5(JPH2):c.833C>G (p.Pro278Arg) rs1226206290 0.00001
NM_020433.5(JPH2):c.838G>A (p.Glu280Lys) rs748282723 0.00001
NM_020433.5(JPH2):c.854C>A (p.Ala285Asp) rs1252094258 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
NC_000020.10:g.(?_42743436)_(42815345_?)dup
NC_000020.10:g.(?_42788248)_(42815355_?)del
NC_000020.10:g.(?_42814947)_(42815345_?)dup
NC_000020.11:g.(?_44186317)_(44186715_?)dup
NM_020433.4(JPH2):c.493_514delinsC (p.Ser165_Asn172delinsHis) rs1555858801
NM_020433.5(JPH2):c.1062G>C (p.Met354Ile) rs546800323
NM_020433.5(JPH2):c.1079A>T (p.Asn360Ile)
NM_020433.5(JPH2):c.1083G>T (p.Lys361Asn) rs971528622
NM_020433.5(JPH2):c.109G>A (p.Glu37Lys)
NM_020433.5(JPH2):c.109G>C (p.Glu37Gln) rs1427861059
NM_020433.5(JPH2):c.1106G>C (p.Ser369Thr) rs1600857310
NM_020433.5(JPH2):c.1115G>A (p.Gly372Asp)
NM_020433.5(JPH2):c.1123C>T (p.Arg375Cys) rs1199319789
NM_020433.5(JPH2):c.1139C>A (p.Ala380Glu) rs1216466447
NM_020433.5(JPH2):c.1142G>A (p.Arg381His)
NM_020433.5(JPH2):c.1148_1156del (p.Lys383_Glu385del)
NM_020433.5(JPH2):c.1162G>A (p.Ala388Thr)
NM_020433.5(JPH2):c.1170-3T>C
NM_020433.5(JPH2):c.1171A>G (p.Thr391Ala)
NM_020433.5(JPH2):c.1180_1181del (p.Ala394fs)
NM_020433.5(JPH2):c.1181C>G (p.Ala394Gly) rs764133875
NM_020433.5(JPH2):c.1207C>G (p.Gln403Glu) rs955381296
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.1220C>A (p.Ala407Asp) rs2072210950
NM_020433.5(JPH2):c.1235C>G (p.Ser412Cys) rs1004964815
NM_020433.5(JPH2):c.1247G>A (p.Arg416His) rs190802013
NM_020433.5(JPH2):c.1263G>T (p.Glu421Asp)
NM_020433.5(JPH2):c.1288+4G>A rs1012633542
NM_020433.5(JPH2):c.1288+6del
NM_020433.5(JPH2):c.1296del (p.Glu432fs)
NM_020433.5(JPH2):c.1309C>T (p.Arg437Trp)
NM_020433.5(JPH2):c.1332G>T (p.Glu444Asp)
NM_020433.5(JPH2):c.1342A>G (p.Ser448Gly)
NM_020433.5(JPH2):c.1355C>T (p.Pro452Leu)
NM_020433.5(JPH2):c.1359_1388del (p.Asp454_Pro463del) rs2145838837
NM_020433.5(JPH2):c.1361A>C (p.Asp454Ala)
NM_020433.5(JPH2):c.1367G>A (p.Gly456Asp)
NM_020433.5(JPH2):c.1375G>A (p.Ala459Thr)
NM_020433.5(JPH2):c.1375G>T (p.Ala459Ser)
NM_020433.5(JPH2):c.1376C>A (p.Ala459Glu)
NM_020433.5(JPH2):c.1379C>T (p.Ala460Val)
NM_020433.5(JPH2):c.1382G>A (p.Gly461Asp)
NM_020433.5(JPH2):c.1393C>T (p.Pro465Ser)
NM_020433.5(JPH2):c.1396C>T (p.Pro466Ser)
NM_020433.5(JPH2):c.1399C>G (p.Arg467Gly) rs984065543
NM_020433.5(JPH2):c.1409C>T (p.Pro470Leu) rs1312283242
NM_020433.5(JPH2):c.140A>C (p.Glu47Ala) rs2072846446
NM_020433.5(JPH2):c.1430C>A (p.Thr477Asn)
NM_020433.5(JPH2):c.1442A>C (p.Glu481Ala)
NM_020433.5(JPH2):c.1445G>A (p.Gly482Asp)
NM_020433.5(JPH2):c.1459C>T (p.Pro487Ser)
NM_020433.5(JPH2):c.1464C>A (p.Ala488=) rs1060499997
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.1513G>C (p.Gly505Arg) rs140740776
NM_020433.5(JPH2):c.1516C>G (p.Leu506Val)
NM_020433.5(JPH2):c.1529G>A (p.Gly510Asp)
NM_020433.5(JPH2):c.1552G>A (p.Gly518Ser)
NM_020433.5(JPH2):c.1552G>T (p.Gly518Cys) rs926337524
NM_020433.5(JPH2):c.1573A>G (p.Thr525Ala)
NM_020433.5(JPH2):c.1598G>A (p.Arg533His)
NM_020433.5(JPH2):c.1624C>T (p.Arg542Cys)
NM_020433.5(JPH2):c.1625G>T (p.Arg542Leu) rs369279135
NM_020433.5(JPH2):c.1630G>A (p.Ala544Thr) rs761535957
NM_020433.5(JPH2):c.1645C>T (p.Gln549Ter) rs1260496472
NM_020433.5(JPH2):c.164C>T (p.Pro55Leu) rs1060499996
NM_020433.5(JPH2):c.1652C>T (p.Pro551Leu)
NM_020433.5(JPH2):c.1666C>G (p.Arg556Gly)
NM_020433.5(JPH2):c.1682C>T (p.Ala561Val)
NM_020433.5(JPH2):c.1699C>T (p.His567Tyr)
NM_020433.5(JPH2):c.1712T>C (p.Val571Ala)
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.1726C>T (p.Pro576Ser)
NM_020433.5(JPH2):c.1747_1752dup (p.Gln584_Pro585insAspGln)
NM_020433.5(JPH2):c.1753CCCGAG[1] (p.585PE[1])
NM_020433.5(JPH2):c.1754C>T (p.Pro585Leu)
NM_020433.5(JPH2):c.1759_1779dup (p.Pro587_Glu593dup) rs774773499
NM_020433.5(JPH2):c.176C>A (p.Thr59Asn)
NM_020433.5(JPH2):c.1777G>C (p.Glu593Gln) rs1160134535
NM_020433.5(JPH2):c.1778A>G (p.Glu593Gly) rs1569180881
NM_020433.5(JPH2):c.1790C>T (p.Ser597Leu) rs775179837
NM_020433.5(JPH2):c.1792_1797dup (p.Ser598_Pro599dup) rs2145838238
NM_020433.5(JPH2):c.1795C>G (p.Pro599Ala)
NM_020433.5(JPH2):c.1795C>T (p.Pro599Ser)
NM_020433.5(JPH2):c.1814A>G (p.Gln605Arg) rs2145838201
NM_020433.5(JPH2):c.1817C>T (p.Ala606Val)
NM_020433.5(JPH2):c.1823C>A (p.Thr608Lys) rs750776027
NM_020433.5(JPH2):c.1826T>C (p.Leu609Pro)
NM_020433.5(JPH2):c.1871C>G (p.Pro624Arg)
NM_020433.5(JPH2):c.1879A>G (p.Ile627Val) rs1259877706
NM_020433.5(JPH2):c.1882A>G (p.Ile628Val) rs2145838095
NM_020433.5(JPH2):c.1903G>C (p.Ala635Pro) rs1409841420
NM_020433.5(JPH2):c.1904C>A (p.Ala635Asp) rs2145838059
NM_020433.5(JPH2):c.1906A>G (p.Lys636Glu) rs2145838058
NM_020433.5(JPH2):c.1936A>G (p.Thr646Ala)
NM_020433.5(JPH2):c.1936A>T (p.Thr646Ser) rs747762930
NM_020433.5(JPH2):c.1937C>G (p.Thr646Ser) rs1600828763
NM_020433.5(JPH2):c.1942G>A (p.Ala648Thr)
NM_020433.5(JPH2):c.1948_1965dup (p.Ala650_Arg655dup) rs1555853257
NM_020433.5(JPH2):c.1951AAG[2] (p.Lys653del) rs111666278
NM_020433.5(JPH2):c.1961C>T (p.Ala654Val) rs1175261037
NM_020433.5(JPH2):c.1962dup (p.Arg655fs) rs2072183597
NM_020433.5(JPH2):c.1964G>A (p.Arg655Gln) rs1569180563
NM_020433.5(JPH2):c.1975G>A (p.Ala659Thr) rs1600828677
NM_020433.5(JPH2):c.1991C>A (p.Ala664Glu) rs766295044
NM_020433.5(JPH2):c.2006_2010+1dup rs2072182869
NM_020433.5(JPH2):c.2018A>G (p.Asn673Ser) rs781780252
NM_020433.5(JPH2):c.2021C>T (p.Thr674Ile)
NM_020433.5(JPH2):c.2035A>G (p.Met679Val)
NM_020433.5(JPH2):c.2044CTG[1] (p.Leu683del) rs2072175115
NM_020433.5(JPH2):c.2066T>C (p.Ile689Thr)
NM_020433.5(JPH2):c.2073_2074inv (p.Val692Ile)
NM_020433.5(JPH2):c.2077C>G (p.His693Asp)
NM_020433.5(JPH2):c.211G>T (p.Gly71Trp)
NM_020433.5(JPH2):c.229A>G (p.Lys77Glu) rs2072844538
NM_020433.5(JPH2):c.235C>T (p.Arg79Cys)
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.266G>A (p.Gly89Asp)
NM_020433.5(JPH2):c.289C>T (p.Arg97Trp) rs746943770
NM_020433.5(JPH2):c.296G>A (p.Ser99Asn)
NM_020433.5(JPH2):c.296G>C (p.Ser99Thr)
NM_020433.5(JPH2):c.306C>A (p.Ser102Arg)
NM_020433.5(JPH2):c.307G>A (p.Gly103Ser) rs530754608
NM_020433.5(JPH2):c.349G>T (p.Gly117Cys) rs1414551155
NM_020433.5(JPH2):c.349_351del (p.Gly117del) rs1351653670
NM_020433.5(JPH2):c.361G>A (p.Glu121Lys) rs1569226231
NM_020433.5(JPH2):c.364dup (p.Thr122fs) rs2145905725
NM_020433.5(JPH2):c.376G>A (p.Gly126Arg) rs876657834
NM_020433.5(JPH2):c.409A>T (p.Met137Leu)
NM_020433.5(JPH2):c.416A>G (p.His139Arg)
NM_020433.5(JPH2):c.424G>A (p.Gly142Arg)
NM_020433.5(JPH2):c.436A>G (p.Ser146Gly) rs1600858194
NM_020433.5(JPH2):c.439G>A (p.Val147Met) rs1012335909
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.466C>T (p.Arg156Cys) rs543732492
NM_020433.5(JPH2):c.470C>T (p.Ser157Leu)
NM_020433.5(JPH2):c.473C>T (p.Pro158Leu) rs1375422053
NM_020433.5(JPH2):c.476T>A (p.Leu159Gln) rs886038834
NM_020433.5(JPH2):c.478C>T (p.Arg160Cys)
NM_020433.5(JPH2):c.499C>A (p.Arg167Ser)
NM_020433.5(JPH2):c.502A>G (p.Ser168Gly) rs869025439
NM_020433.5(JPH2):c.504C>T (p.Ser168=) rs2072600851
NM_020433.5(JPH2):c.511_516dup (p.Ser171_Asn172dup) rs864309612
NM_020433.5(JPH2):c.517G>C (p.Gly173Arg) rs757693348
NM_020433.5(JPH2):c.521C>T (p.Thr174Met)
NM_020433.5(JPH2):c.532G>A (p.Asp178Asn) rs1600858066
NM_020433.5(JPH2):c.539C>T (p.Pro180Leu) rs2072600381
NM_020433.5(JPH2):c.547C>G (p.Pro183Ala)
NM_020433.5(JPH2):c.560del (p.Gly187fs)
NM_020433.5(JPH2):c.57G>T (p.Glu19Asp)
NM_020433.5(JPH2):c.580G>T (p.Ala194Ser) rs914203878
NM_020433.5(JPH2):c.586C>G (p.Pro196Ala)
NM_020433.5(JPH2):c.590G>A (p.Arg197His)
NM_020433.5(JPH2):c.590G>T (p.Arg197Leu) rs1258920337
NM_020433.5(JPH2):c.596G>A (p.Gly199Asp) rs2072599448
NM_020433.5(JPH2):c.5G>A (p.Ser2Asn)
NM_020433.5(JPH2):c.601_602delinsTT (p.Ala201Leu)
NM_020433.5(JPH2):c.607A>G (p.Ser203Gly) rs2145879448
NM_020433.5(JPH2):c.611T>A (p.Leu204His)
NM_020433.5(JPH2):c.617C>T (p.Ala206Val)
NM_020433.5(JPH2):c.622G>A (p.Ala208Thr)
NM_020433.5(JPH2):c.62G>A (p.Gly21Glu) rs2072847837
NM_020433.5(JPH2):c.646A>C (p.Lys216Gln)
NM_020433.5(JPH2):c.649G>A (p.Gly217Ser) rs1346458604
NM_020433.5(JPH2):c.650_651delinsCT (p.Gly217Ala) rs2145879374
NM_020433.5(JPH2):c.658C>G (p.Leu220Val)
NM_020433.5(JPH2):c.680T>G (p.Leu227Arg)
NM_020433.5(JPH2):c.683G>A (p.Gly228Asp)
NM_020433.5(JPH2):c.686A>G (p.Lys229Arg)
NM_020433.5(JPH2):c.700G>A (p.Glu234Lys) rs13041770
NM_020433.5(JPH2):c.718G>T (p.Gly240Cys) rs2145879251
NM_020433.5(JPH2):c.739A>G (p.Ser247Gly)
NM_020433.5(JPH2):c.756C>A (p.Asp252Glu) rs2145879184
NM_020433.5(JPH2):c.775G>A (p.Asp259Asn)
NM_020433.5(JPH2):c.793A>G (p.Ser265Gly)
NM_020433.5(JPH2):c.795C>G (p.Ser265Arg) rs1555858729
NM_020433.5(JPH2):c.810_830del (p.Glu271_Ala277del) rs1308789253
NM_020433.5(JPH2):c.817G>A (p.Ala273Thr)
NM_020433.5(JPH2):c.817G>T (p.Ala273Ser)
NM_020433.5(JPH2):c.818C>T (p.Ala273Val)
NM_020433.5(JPH2):c.852C>A (p.Asp284Glu) rs747209399
NM_020433.5(JPH2):c.869C>G (p.Thr290Ser) rs757257639
NM_020433.5(JPH2):c.869C>T (p.Thr290Ile) rs757257639
NM_020433.5(JPH2):c.874A>C (p.Met292Leu)
NM_020433.5(JPH2):c.875T>C (p.Met292Thr) rs1380514288
NM_020433.5(JPH2):c.876G>A (p.Met292Ile)
NM_020433.5(JPH2):c.877G>T (p.Gly293Cys) rs1359821067
NM_020433.5(JPH2):c.887A>C (p.Lys296Thr) rs1600857521
NM_020433.5(JPH2):c.899G>A (p.Arg300His)
NM_020433.5(JPH2):c.899G>C (p.Arg300Pro) rs2072594403
NM_020433.5(JPH2):c.902C>T (p.Ser301Leu)
NM_020433.5(JPH2):c.92G>A (p.Gly31Asp) rs1569226648
NM_020433.5(JPH2):c.931G>A (p.Gly311Ser)
NM_020433.5(JPH2):c.944A>G (p.Glu315Gly) rs1339779323
NM_020433.5(JPH2):c.946G>A (p.Gly316Ser) rs2145878846
NM_020433.5(JPH2):c.949G>A (p.Glu317Lys) rs1054295023
NM_020433.5(JPH2):c.958G>A (p.Asp320Asn) rs2072593559
NM_020433.5(JPH2):c.967C>A (p.Arg323Ser)
NM_020433.5(JPH2):c.975_976delinsAC (p.Tyr326His)
NM_020433.5(JPH2):c.986C>A (p.Thr329Asn) rs1555858670
NM_020433.5(JPH2):c.98A>G (p.Lys33Arg) rs573848816

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