ClinVar Miner

List of variants in gene JPH2 studied for not provided

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Gene type:
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Total variants: 196
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HGVS dbSNP gnomAD frequency
NM_020433.5(JPH2):c.156C>T (p.Tyr52=) rs1883790 0.86681
NM_020433.5(JPH2):c.379+36A>G rs6031442 0.86287
NM_020433.5(JPH2):c.-393C>A rs6031444 0.60982
NM_020433.5(JPH2):c.379+8538T>A rs2064381 0.56659
NM_020433.5(JPH2):c.1289-89A>C rs6073336 0.51040
NM_020433.5(JPH2):c.379+130T>C rs6031441 0.42054
NM_020433.5(JPH2):c.379+279C>A rs2092518 0.42042
NM_020433.5(JPH2):c.*14+269C>T rs2867794 0.40853
NM_020433.5(JPH2):c.*14+173A>G rs56170305 0.33284
NM_020433.5(JPH2):c.-401G>A rs41279278 0.20507
NM_020433.5(JPH2):c.379+8605C>G rs6130557 0.19687
NM_020433.5(JPH2):c.1169+123A>G rs55825903 0.12105
NM_020433.5(JPH2):c.2010+40C>G rs56061946 0.11470
NM_020433.4(JPH2):c.-974T>C rs17755091 0.09671
NM_020433.5(JPH2):c.*258G>A rs13043824 0.09303
NM_020433.5(JPH2):c.379+77C>T rs75804573 0.08287
NM_020433.5(JPH2):c.*15-115A>C rs116834259 0.02818
NM_020433.5(JPH2):c.379+8059T>C rs111784271 0.02185
NM_020433.5(JPH2):c.1289-7C>T rs116986535 0.02105
NM_020433.5(JPH2):c.380-105G>A rs12480648 0.01885
NM_020433.5(JPH2):c.2010+245G>A rs7267668 0.01363
NM_020433.5(JPH2):c.2010+89G>A rs117011960 0.01070
NM_020433.5(JPH2):c.1513G>A (p.Gly505Ser) rs140740776 0.01003
NM_020433.5(JPH2):c.379+8052T>C rs74325346 0.01003
NM_020433.5(JPH2):c.2011-100C>G rs111521448 0.00905
NM_020433.5(JPH2):c.1288+52C>T rs115546872 0.00750
NM_020433.5(JPH2):c.*14+175A>G rs398040671 0.00718
NM_020433.5(JPH2):c.661T>C (p.Phe221Leu) rs558770240 0.00630
NM_020433.5(JPH2):c.*14+124C>T rs115154926 0.00527
NM_020433.5(JPH2):c.380-141T>C rs7360117 0.00513
NM_020433.5(JPH2):c.379+8507A>C rs192094794 0.00439
NM_020433.5(JPH2):c.380-9C>G rs111987307 0.00423
NM_020433.5(JPH2):c.*14+259C>T rs565720270 0.00344
NM_020433.5(JPH2):c.562C>T (p.Pro188Ser) rs574746149 0.00214
NM_020433.5(JPH2):c.1794C>A (p.Ser598=) rs369883442 0.00212
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 0.00145
NM_020433.5(JPH2):c.1971G>A (p.Glu657=) rs142333841 0.00099
NM_020433.5(JPH2):c.1289-36G>C rs184801349 0.00090
NM_020433.5(JPH2):c.1424G>A (p.Arg475His) rs765754956 0.00079
NM_020433.5(JPH2):c.128A>G (p.Asn43Ser) rs138992849 0.00072
NM_020433.5(JPH2):c.2011-17C>T rs375414020 0.00051
NM_020433.5(JPH2):c.572C>G (p.Pro191Arg) rs554853074 0.00048
NM_020433.5(JPH2):c.1137C>A (p.Ile379=) rs143158930 0.00046
NM_020433.5(JPH2):c.1380G>A (p.Ala460=) rs531877510 0.00044
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.1410G>A (p.Pro470=) rs751126526 0.00036
NM_020433.5(JPH2):c.1015G>A (p.Gly339Ser) rs368290474 0.00035
NM_020433.5(JPH2):c.780C>T (p.Ala260=) rs199840543 0.00034
NM_020433.5(JPH2):c.783G>C (p.Ala261=) rs201085317 0.00034
NM_020433.5(JPH2):c.1107T>C (p.Ser369=) rs148311735 0.00033
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.379+12T>G rs763058686 0.00023
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.1271C>T (p.Pro424Leu) rs375446898 0.00013
NM_020433.5(JPH2):c.1581C>G (p.Ser527=) rs752533344 0.00011
NM_020433.5(JPH2):c.735T>C (p.Arg245=) rs569709682 0.00011
NM_020433.5(JPH2):c.1896G>C (p.Glu632Asp) rs367563723 0.00010
NM_020433.5(JPH2):c.*3G>A rs200730588 0.00009
NM_020433.5(JPH2):c.1169+10C>T rs372219237 0.00009
NM_020433.5(JPH2):c.1565G>A (p.Arg522Gln) rs980412081 0.00007
NM_020433.5(JPH2):c.582C>T (p.Ala194=) rs565885872 0.00007
NM_020433.5(JPH2):c.1185G>A (p.Lys395=) rs760586009 0.00006
NM_020433.5(JPH2):c.1433C>T (p.Pro478Leu) rs970525996 0.00006
NM_020433.5(JPH2):c.1771G>A (p.Gly591Arg) rs751914931 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.1894G>A (p.Glu632Lys) rs200149713 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.1246C>T (p.Arg416Cys) rs794729025 0.00004
NM_020433.5(JPH2):c.1348C>T (p.Leu450=) rs932394965 0.00004
NM_020433.5(JPH2):c.1658C>T (p.Ala553Val) rs200422043 0.00004
NM_020433.5(JPH2):c.1974C>T (p.Ala658=) rs554320907 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.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.1078A>C (p.Asn360His) rs747676827 0.00003
NM_020433.5(JPH2):c.1170-11T>C rs376052338 0.00003
NM_020433.5(JPH2):c.1180G>A (p.Ala394Thr) rs372515066 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.8G>A (p.Gly3Glu) rs746138065 0.00003
NM_020433.5(JPH2):c.1497C>A (p.Pro499=) rs1441785257 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.1851G>A (p.Glu617=) rs759468707 0.00002
NM_020433.5(JPH2):c.1951A>G (p.Lys651Glu) rs778410296 0.00002
NM_020433.5(JPH2):c.820G>A (p.Asp274Asn) rs376694047 0.00002
NM_020433.5(JPH2):c.*15A>T rs561604738 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.1240A>G (p.Ile414Val) rs537544755 0.00001
NM_020433.5(JPH2):c.1289-9C>T rs936894679 0.00001
NM_020433.5(JPH2):c.1292C>T (p.Pro431Leu) rs1272859605 0.00001
NM_020433.5(JPH2):c.1293G>A (p.Pro431=) rs2072193158 0.00001
NM_020433.5(JPH2):c.1306C>T (p.Arg436Cys) rs1326977511 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.1667G>A (p.Arg556Gln) rs780999986 0.00001
NM_020433.5(JPH2):c.1671G>A (p.Glu557=) rs754665306 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.1750C>A (p.Gln584Lys) rs730880253 0.00001
NM_020433.5(JPH2):c.1847G>T (p.Arg616Leu) rs200081425 0.00001
NM_020433.5(JPH2):c.226A>G (p.Thr76Ala) rs764474492 0.00001
NM_020433.5(JPH2):c.278G>A (p.Arg93His) rs1131692244 0.00001
NM_020433.5(JPH2):c.412C>A (p.Arg138Ser) rs1312146372 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.458T>C (p.Val153Ala) rs776045429 0.00001
NM_020433.5(JPH2):c.45C>T (p.Cys15=) rs748073251 0.00001
NM_020433.5(JPH2):c.611T>G (p.Leu204Arg) rs1369796322 0.00001
NM_020433.5(JPH2):c.641C>A (p.Ala214Glu) rs952147058 0.00001
NM_020433.5(JPH2):c.723C>G (p.Ser241Arg) rs587782952 0.00001
NM_020433.5(JPH2):c.810C>A (p.Ala270=) rs779680763 0.00001
NM_020433.5(JPH2):c.837C>T (p.Phe279=) rs773521151 0.00001
NM_020433.5(JPH2):c.968G>A (p.Arg323His) rs778739555 0.00001
NM_020433.5(JPH2):c.978T>C (p.Tyr326=) rs777461348 0.00001
GRCh37/hg19 20q13.12(chr20:42801971-42821839)x3
NM_020433.5(JPH2):c.*14+169GC[3] rs1555853088
NM_020433.5(JPH2):c.*14+169GC[4] rs1555853088
NM_020433.5(JPH2):c.*14+173AC[13] rs3037626
NM_020433.5(JPH2):c.*14+173AC[18] rs3037626
NM_020433.5(JPH2):c.*14+173AC[19] rs3037626
NM_020433.5(JPH2):c.*14+173AC[20] rs3037626
NM_020433.5(JPH2):c.*14+173AC[21] rs3037626
NM_020433.5(JPH2):c.*14+173AC[23] rs3037626
NM_020433.5(JPH2):c.-450G>C rs2235808
NM_020433.5(JPH2):c.1013A>G (p.Glu338Gly)
NM_020433.5(JPH2):c.1025G>A (p.Arg342His)
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.109G>A (p.Glu37Lys)
NM_020433.5(JPH2):c.1169+248del rs199566074
NM_020433.5(JPH2):c.1170-278A>C rs183116678
NM_020433.5(JPH2):c.1185_1186delinsAA (p.Ala396Thr) rs1060503798
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.1289-34G>T rs116625075
NM_020433.5(JPH2):c.1375G>A (p.Ala459Thr)
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.1487G>A (p.Arg496Gln) rs1404072085
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.1655C>T (p.Pro552Leu) rs876657833
NM_020433.5(JPH2):c.1665G>A (p.Ser555=) rs398124357
NM_020433.5(JPH2):c.1674G>A (p.Pro558=)
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)
NM_020433.5(JPH2):c.1759_1779dup (p.Pro587_Glu593dup) rs774773499
NM_020433.5(JPH2):c.1826T>C (p.Leu609Pro)
NM_020433.5(JPH2):c.1851G>C (p.Glu617Asp) rs759468707
NM_020433.5(JPH2):c.1903G>C (p.Ala635Pro) rs1409841420
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.1975G>A (p.Ala659Thr) rs1600828677
NM_020433.5(JPH2):c.1995GGTGGA[3] (p.666VE[3]) rs763064503
NM_020433.5(JPH2):c.2010+146G>C rs6103631
NM_020433.5(JPH2):c.2066T>C (p.Ile689Thr)
NM_020433.5(JPH2):c.222A>G (p.Ile74Met) rs2145906046
NM_020433.5(JPH2):c.236G>C (p.Arg79Pro)
NM_020433.5(JPH2):c.23T>C (p.Phe8Ser) rs2072848592
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.350G>A (p.Gly117Asp) rs1289294595
NM_020433.5(JPH2):c.424G>T (p.Gly142Ter) rs765874503
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.468C>G (p.Arg156=) rs553395930
NM_020433.5(JPH2):c.470C>T (p.Ser157Leu)
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.624C>G (p.Ala208=) rs398124358
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.694C>T (p.Arg232Cys) rs1002693181
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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