ClinVar Miner

List of variants in gene JPH2 reported as uncertain significance for not provided

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Total variants: 135
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HGVS dbSNP gnomAD frequency
NM_020433.5(JPH2):c.128A>G (p.Asn43Ser) rs138992849 0.00068
NM_020433.5(JPH2):c.572C>G (p.Pro191Arg) rs554853074 0.00048
NM_020433.5(JPH2):c.1380G>A (p.Ala460=) rs531877510 0.00044
NM_020433.5(JPH2):c.1204G>A (p.Glu402Lys) rs147407445 0.00038
NM_020433.5(JPH2):c.692G>A (p.Arg231Gln) rs761591158 0.00038
NM_020433.5(JPH2):c.1015G>A (p.Gly339Ser) rs368290474 0.00031
NM_020433.5(JPH2):c.*15A>T rs561604738 0.00028
NM_020433.5(JPH2):c.1271C>T (p.Pro424Leu) rs375446898 0.00013
NM_020433.5(JPH2):c.1896G>C (p.Glu632Asp) rs367563723 0.00010
NM_020433.5(JPH2):c.1565G>A (p.Arg522Gln) rs980412081 0.00007
NM_020433.5(JPH2):c.1826T>C (p.Leu609Pro) rs556546220 0.00007
NM_020433.5(JPH2):c.1375G>A (p.Ala459Thr) rs567872241 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.1958A>C (p.Lys653Thr) rs1015099481 0.00005
NM_020433.5(JPH2):c.1033G>C (p.Val345Leu) rs748233107 0.00004
NM_020433.5(JPH2):c.1149G>T (p.Lys383Asn) rs754243118 0.00004
NM_020433.5(JPH2):c.299C>T (p.Ser100Leu) rs145401873 0.00004
NM_020433.5(JPH2):c.601G>A (p.Ala201Thr) rs953581894 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.1246C>T (p.Arg416Cys) rs794729025 0.00003
NM_020433.5(JPH2):c.1577C>T (p.Pro526Leu) rs756327822 0.00003
NM_020433.5(JPH2):c.1582G>A (p.Glu528Lys) rs794729026 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.1937C>G (p.Thr646Ser) rs1600828763 0.00003
NM_020433.5(JPH2):c.2062G>A (p.Ala688Thr) rs540933939 0.00003
NM_020433.5(JPH2):c.2074G>A (p.Val692Ile) rs917413698 0.00003
NM_020433.5(JPH2):c.8G>A (p.Gly3Glu) rs746138065 0.00003
NM_020433.5(JPH2):c.1025G>A (p.Arg342His) rs760723899 0.00002
NM_020433.5(JPH2):c.1240A>G (p.Ile414Val) rs537544755 0.00002
NM_020433.5(JPH2):c.1292C>T (p.Pro431Leu) rs1272859605 0.00002
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.1951A>G (p.Lys651Glu) rs778410296 0.00002
NM_020433.5(JPH2):c.641C>A (p.Ala214Glu) rs952147058 0.00002
NM_020433.5(JPH2):c.-4T>A rs761140357 0.00001
NM_020433.5(JPH2):c.1062G>C (p.Met354Ile) rs546800323 0.00001
NM_020433.5(JPH2):c.109G>A (p.Glu37Lys) rs1427861059 0.00001
NM_020433.5(JPH2):c.1141C>T (p.Arg381Cys) rs768172413 0.00001
NM_020433.5(JPH2):c.1169+5G>A rs766770510 0.00001
NM_020433.5(JPH2):c.1175G>A (p.Ser392Asn) rs148621426 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.1436G>T (p.Arg479Leu) rs1229570054 0.00001
NM_020433.5(JPH2):c.1487G>A (p.Arg496Gln) rs1404072085 0.00001
NM_020433.5(JPH2):c.1489C>T (p.Pro497Ser) rs1413237923 0.00001
NM_020433.5(JPH2):c.1568C>T (p.Ser523Leu) rs1378737709 0.00001
NM_020433.5(JPH2):c.1674G>A (p.Pro558=) rs779915700 0.00001
NM_020433.5(JPH2):c.1690C>T (p.Gln564Ter) rs1185542895 0.00001
NM_020433.5(JPH2):c.169G>A (p.Gly57Arg) rs1288721821 0.00001
NM_020433.5(JPH2):c.1847G>T (p.Arg616Leu) rs200081425 0.00001
NM_020433.5(JPH2):c.1903G>C (p.Ala635Pro) rs1409841420 0.00001
NM_020433.5(JPH2):c.2066T>C (p.Ile689Thr) rs2515716926 0.00001
NM_020433.5(JPH2):c.226A>G (p.Thr76Ala) rs764474492 0.00001
NM_020433.5(JPH2):c.236G>C (p.Arg79Pro) rs767968907 0.00001
NM_020433.5(JPH2):c.23T>C (p.Phe8Ser) rs2072848592 0.00001
NM_020433.5(JPH2):c.278G>A (p.Arg93His) rs1131692244 0.00001
NM_020433.5(JPH2):c.350G>A (p.Gly117Asp) rs1289294595 0.00001
NM_020433.5(JPH2):c.412C>A (p.Arg138Ser) rs1312146372 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.535T>C (p.Ser179Pro) rs1272379812 0.00001
NM_020433.5(JPH2):c.611T>G (p.Leu204Arg) rs1369796322 0.00001
NM_020433.5(JPH2):c.723C>G (p.Ser241Arg) rs587782952 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.1013A>G (p.Glu338Gly) rs2515744303
NM_020433.5(JPH2):c.1022A>G (p.Tyr341Cys) rs2072592330
NM_020433.5(JPH2):c.1088G>A (p.Arg363His) rs757549568
NM_020433.5(JPH2):c.1090C>T (p.Gln364Ter) rs794729024
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.1247G>A (p.Arg416His) rs190802013
NM_020433.5(JPH2):c.1275C>A (p.Asp425Glu) rs2145840509
NM_020433.5(JPH2):c.1322A>G (p.Glu441Gly)
NM_020433.5(JPH2):c.1414_1415delinsGG (p.Leu472Gly) rs2145838792
NM_020433.5(JPH2):c.1454C>T (p.Pro485Leu) rs1085307656
NM_020433.5(JPH2):c.1464C>A (p.Ala488=) rs1060499997
NM_020433.5(JPH2):c.1551C>A (p.Ser517Arg) rs1295638660
NM_020433.5(JPH2):c.1562G>A (p.Ser521Asn) rs1057524375
NM_020433.5(JPH2):c.1616C>A (p.Ala539Asp)
NM_020433.5(JPH2):c.1622A>G (p.Glu541Gly) rs879432950
NM_020433.5(JPH2):c.1625G>T (p.Arg542Leu) rs369279135
NM_020433.5(JPH2):c.1655C>T (p.Pro552Leu) rs876657833
NM_020433.5(JPH2):c.1665G>A (p.Ser555=) rs398124357
NM_020433.5(JPH2):c.1667G>A (p.Arg556Gln) rs780999986
NM_020433.5(JPH2):c.1699C>T (p.His567Tyr) rs753473501
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.1739C>A (p.Pro580His) rs1162090571
NM_020433.5(JPH2):c.1739C>T (p.Pro580Leu) rs1162090571
NM_020433.5(JPH2):c.1750C>A (p.Gln584Lys) rs730880253
NM_020433.5(JPH2):c.1759_1779dup (p.Pro587_Glu593dup) rs774773499
NM_020433.5(JPH2):c.1784C>T (p.Ala595Val)
NM_020433.5(JPH2):c.1793C>T (p.Ser598Phe) rs753491973
NM_020433.5(JPH2):c.1796C>G (p.Pro599Arg) rs770986432
NM_020433.5(JPH2):c.1814A>G (p.Gln605Arg) rs2145838201
NM_020433.5(JPH2):c.1823C>G (p.Thr608Arg)
NM_020433.5(JPH2):c.1851G>C (p.Glu617Asp) rs759468707
NM_020433.5(JPH2):c.1886C>G (p.Pro629Arg)
NM_020433.5(JPH2):c.1951AAG[2] (p.Lys653del) rs111666278
NM_020433.5(JPH2):c.1975G>A (p.Ala659Thr) rs1600828677
NM_020433.5(JPH2):c.1995GGTGGA[3] (p.666VE[3]) rs763064503
NM_020433.5(JPH2):c.222A>G (p.Ile74Met) rs2145906046
NM_020433.5(JPH2):c.323G>A (p.Gly108Asp) rs2145905825
NM_020433.5(JPH2):c.338G>T (p.Gly113Val) rs2145905804
NM_020433.5(JPH2):c.353A>G (p.Tyr118Cys)
NM_020433.5(JPH2):c.431G>A (p.Arg144His) rs1167554487
NM_020433.5(JPH2):c.439G>T (p.Val147Leu)
NM_020433.5(JPH2):c.448G>C (p.Gly150Arg) rs1231304653
NM_020433.5(JPH2):c.470C>T (p.Ser157Leu) rs772526418
NM_020433.5(JPH2):c.505G>C (p.Glu169Gln) rs2072600840
NM_020433.5(JPH2):c.517G>C (p.Gly173Arg) rs757693348
NM_020433.5(JPH2):c.541del (p.Ala181fs) rs1600857997
NM_020433.5(JPH2):c.584T>C (p.Ile195Thr) rs1555858785
NM_020433.5(JPH2):c.590G>T (p.Arg197Leu) rs1258920337
NM_020433.5(JPH2):c.624C>G (p.Ala208=) rs398124358
NM_020433.5(JPH2):c.640_641delinsTT (p.Ala214Leu)
NM_020433.5(JPH2):c.647A>T (p.Lys216Met)
NM_020433.5(JPH2):c.649G>T (p.Gly217Cys) rs1346458604
NM_020433.5(JPH2):c.673G>A (p.Ala225Thr) rs1456694324
NM_020433.5(JPH2):c.674C>T (p.Ala225Val) rs2515744886
NM_020433.5(JPH2):c.67G>A (p.Ala23Thr) rs2515764845
NM_020433.5(JPH2):c.68C>T (p.Ala23Val) rs780867789
NM_020433.5(JPH2):c.694C>T (p.Arg232Cys) rs1002693181
NM_020433.5(JPH2):c.718G>T (p.Gly240Cys) rs2145879251
NM_020433.5(JPH2):c.856ACC[2] (p.Thr288del)
NM_020433.5(JPH2):c.910G>T (p.Gly304Cys) rs2072594160
NM_020433.5(JPH2):c.919G>A (p.Glu307Lys) rs866434937
NM_020433.5(JPH2):c.944A>G (p.Glu315Gly) rs1339779323
NM_020433.5(JPH2):c.985A>G (p.Thr329Ala) rs1555858673

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