ClinVar Miner

List of variants in gene JPH2 reported as likely benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 311
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HGVS dbSNP gnomAD frequency
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.380-6C>T rs201197277 0.00201
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.565G>A (p.Ala189Thr) rs730880254 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.2010+11C>T rs201615229 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.1704C>T (p.Ser568=) rs200892606 0.00046
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.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.1731G>A (p.Glu577=) rs530433203 0.00032
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.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.2052C>T (p.Asn684=) rs779977095 0.00016
NM_020433.5(JPH2):c.579C>T (p.Pro193=) rs534491843 0.00015
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.*3G>A rs200730588 0.00009
NM_020433.5(JPH2):c.1169+10C>T rs372219237 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.582C>T (p.Ala194=) rs565885872 0.00007
NM_020433.5(JPH2):c.1185G>A (p.Lys395=) rs760586009 0.00006
NM_020433.5(JPH2):c.1272G>A (p.Pro424=) rs113719056 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.380-20C>T rs779167207 0.00006
NM_020433.5(JPH2):c.861C>T (p.Thr287=) rs565508885 0.00006
NM_020433.5(JPH2):c.819C>A (p.Ala273=) rs753387666 0.00005
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.1812G>T (p.Leu604=) rs780290036 0.00004
NM_020433.5(JPH2):c.1974C>T (p.Ala658=) rs554320907 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.843C>T (p.Ala281=) rs151305680 0.00004
NM_020433.5(JPH2):c.1170-11T>C rs376052338 0.00003
NM_020433.5(JPH2):c.1288+15G>C rs369115643 0.00003
NM_020433.5(JPH2):c.1890A>G (p.Lys630=) rs764093410 0.00003
NM_020433.5(JPH2):c.2011-15C>T rs755656916 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.379+20C>T rs551866698 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.669G>A (p.Arg223=) rs1169464584 0.00003
NM_020433.5(JPH2):c.1344C>T (p.Ser448=) rs886038859 0.00002
NM_020433.5(JPH2):c.1497C>A (p.Pro499=) rs1441785257 0.00002
NM_020433.5(JPH2):c.159C>T (p.Thr53=) rs773186875 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.612C>T (p.Leu204=) rs922166422 0.00002
NM_020433.5(JPH2):c.633C>T (p.Ala211=) rs1372602717 0.00002
NM_020433.5(JPH2):c.820G>A (p.Asp274Asn) rs376694047 0.00002
NM_020433.5(JPH2):c.909C>T (p.Phe303=) rs199637403 0.00002
NM_020433.5(JPH2):c.1041C>A (p.Val347=) rs1035583608 0.00001
NM_020433.5(JPH2):c.1155G>A (p.Glu385=) rs756604823 0.00001
NM_020433.5(JPH2):c.1203G>A (p.Ala401=) rs138017620 0.00001
NM_020433.5(JPH2):c.1251T>G (p.Thr417=) rs1336473590 0.00001
NM_020433.5(JPH2):c.1289-8C>T rs1487982810 0.00001
NM_020433.5(JPH2):c.1289-9C>T rs936894679 0.00001
NM_020433.5(JPH2):c.1293G>A (p.Pro431=) rs2072193158 0.00001
NM_020433.5(JPH2):c.1317G>A (p.Leu439=) rs1339404249 0.00001
NM_020433.5(JPH2):c.1431C>T (p.Thr477=) rs1057524121 0.00001
NM_020433.5(JPH2):c.1461G>A (p.Pro487=) rs781613132 0.00001
NM_020433.5(JPH2):c.1551C>T (p.Ser517=) rs1295638660 0.00001
NM_020433.5(JPH2):c.1659G>A (p.Ala553=) rs749392070 0.00001
NM_020433.5(JPH2):c.1662G>A (p.Pro554=) rs748323930 0.00001
NM_020433.5(JPH2):c.1671G>A (p.Glu557=) rs754665306 0.00001
NM_020433.5(JPH2):c.168C>T (p.Ser56=) rs748126772 0.00001
NM_020433.5(JPH2):c.1722G>A (p.Thr574=) rs769828263 0.00001
NM_020433.5(JPH2):c.1729G>A (p.Glu577Lys) rs181096982 0.00001
NM_020433.5(JPH2):c.1740C>A (p.Pro580=) rs779868269 0.00001
NM_020433.5(JPH2):c.1758G>A (p.Glu586=) rs753383507 0.00001
NM_020433.5(JPH2):c.1770C>T (p.Ser590=) rs755757325 0.00001
NM_020433.5(JPH2):c.1788C>T (p.Pro596=) rs760929264 0.00001
NM_020433.5(JPH2):c.1803C>T (p.Thr601=) rs1060503799 0.00001
NM_020433.5(JPH2):c.1932G>A (p.Gly644=) rs1037983273 0.00001
NM_020433.5(JPH2):c.252C>T (p.Gly84=) rs763286384 0.00001
NM_020433.5(JPH2):c.363G>A (p.Glu121=) rs753073876 0.00001
NM_020433.5(JPH2):c.379+17G>A rs765611071 0.00001
NM_020433.5(JPH2):c.379+19C>T rs776341751 0.00001
NM_020433.5(JPH2):c.45C>T (p.Cys15=) rs748073251 0.00001
NM_020433.5(JPH2):c.543C>T (p.Ala181=) rs2072600286 0.00001
NM_020433.5(JPH2):c.678G>C (p.Leu226=) rs1414276112 0.00001
NM_020433.5(JPH2):c.687G>A (p.Lys229=) rs1372719506 0.00001
NM_020433.5(JPH2):c.696C>T (p.Arg232=) rs1419966903 0.00001
NM_020433.5(JPH2):c.714C>G (p.Ser238=) rs772581238 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.837C>T (p.Phe279=) rs773521151 0.00001
NM_020433.5(JPH2):c.838G>A (p.Glu280Lys) rs748282723 0.00001
NM_020433.5(JPH2):c.915G>A (p.Val305=) rs952136880 0.00001
NM_020433.5(JPH2):c.978T>C (p.Tyr326=) rs777461348 0.00001
NM_020433.5(JPH2):c.*14+15C>T rs1057524316
NM_020433.5(JPH2):c.*14+169GC[3] rs1555853088
NM_020433.5(JPH2):c.*14+169GC[4] rs1555853088
NM_020433.5(JPH2):c.1011G>A (p.Glu337=)
NM_020433.5(JPH2):c.1017C>G (p.Gly339=)
NM_020433.5(JPH2):c.1020G>A (p.Lys340=)
NM_020433.5(JPH2):c.1041C>T (p.Val347=)
NM_020433.5(JPH2):c.1077C>T (p.Ser359=)
NM_020433.5(JPH2):c.1089C>T (p.Arg363=)
NM_020433.5(JPH2):c.108C>A (p.Gly36=)
NM_020433.5(JPH2):c.108C>T (p.Gly36=)
NM_020433.5(JPH2):c.1128C>A (p.Ala376=)
NM_020433.5(JPH2):c.1131T>A (p.Ala377=)
NM_020433.5(JPH2):c.1137C>T (p.Ile379=) rs143158930
NM_020433.5(JPH2):c.1140G>A (p.Ala380=)
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.1161C>T (p.Ala387=)
NM_020433.5(JPH2):c.1169+11G>A
NM_020433.5(JPH2):c.1169+16G>A rs375515254
NM_020433.5(JPH2):c.1169+16G>C rs375515254
NM_020433.5(JPH2):c.1169+16G>T
NM_020433.5(JPH2):c.1169+18G>C rs761686789
NM_020433.5(JPH2):c.1169+20G>T
NM_020433.5(JPH2):c.1169+248del rs199566074
NM_020433.5(JPH2):c.1169+8A>G rs1172047219
NM_020433.5(JPH2):c.1170-17C>A
NM_020433.5(JPH2):c.1170-278A>C rs183116678
NM_020433.5(JPH2):c.1173A>G (p.Thr391=)
NM_020433.5(JPH2):c.1188C>G (p.Ala396=)
NM_020433.5(JPH2):c.1212C>A (p.Ala404=)
NM_020433.5(JPH2):c.1288+10G>C
NM_020433.5(JPH2):c.1288+13A>G
NM_020433.5(JPH2):c.1288+19G>A
NM_020433.5(JPH2):c.1288+20G>A
NM_020433.5(JPH2):c.1288+8_1288+36del
NM_020433.5(JPH2):c.1289-13G>C
NM_020433.5(JPH2):c.1289-34G>T rs116625075
NM_020433.5(JPH2):c.1296A>G (p.Glu432=)
NM_020433.5(JPH2):c.1311G>T (p.Arg437=)
NM_020433.5(JPH2):c.1314G>A (p.Leu438=)
NM_020433.5(JPH2):c.1326C>T (p.Ile442=) rs2145838921
NM_020433.5(JPH2):c.1353G>A (p.Glu451=)
NM_020433.5(JPH2):c.1359C>T (p.Pro453=)
NM_020433.5(JPH2):c.1363C>A (p.Arg455=)
NM_020433.5(JPH2):c.1374C>A (p.Gly458=)
NM_020433.5(JPH2):c.1374C>T (p.Gly458=)
NM_020433.5(JPH2):c.1375G>A (p.Ala459Thr)
NM_020433.5(JPH2):c.1386C>T (p.Leu462=)
NM_020433.5(JPH2):c.1410G>T (p.Pro470=) rs751126526
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.1437G>T (p.Arg479=) rs2145838750
NM_020433.5(JPH2):c.1440C>T (p.Pro480=)
NM_020433.5(JPH2):c.144G>A (p.Val48=)
NM_020433.5(JPH2):c.1452C>T (p.Ser484=)
NM_020433.5(JPH2):c.1464C>G (p.Ala488=)
NM_020433.5(JPH2):c.1473C>G (p.Pro491=)
NM_020433.5(JPH2):c.147A>G (p.Ala49=)
NM_020433.5(JPH2):c.1512C>T (p.Asp504=) rs2145838656
NM_020433.5(JPH2):c.1516C>T (p.Leu506=)
NM_020433.5(JPH2):c.1521G>A (p.Leu507=)
NM_020433.5(JPH2):c.1539C>T (p.Asn513=) rs1377444830
NM_020433.5(JPH2):c.1563C>T (p.Ser521=)
NM_020433.5(JPH2):c.1581C>A (p.Ser527=)
NM_020433.5(JPH2):c.1587C>A (p.Gly529=) rs780938930
NM_020433.5(JPH2):c.1635C>T (p.Ile545=) rs964166503
NM_020433.5(JPH2):c.1653G>A (p.Pro551=)
NM_020433.5(JPH2):c.1674G>A (p.Pro558=)
NM_020433.5(JPH2):c.1674G>T (p.Pro558=)
NM_020433.5(JPH2):c.1677G>A (p.Glu559=)
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.1755C>T (p.Pro585=)
NM_020433.5(JPH2):c.1764G>A (p.Glu588=)
NM_020433.5(JPH2):c.1776C>T (p.Ser592=)
NM_020433.5(JPH2):c.1779G>A (p.Glu593=)
NM_020433.5(JPH2):c.1809G>A (p.Pro603=)
NM_020433.5(JPH2):c.1821C>A (p.Pro607=) rs949299046
NM_020433.5(JPH2):c.1826T>C (p.Leu609Pro)
NM_020433.5(JPH2):c.1836C>A (p.Pro612=)
NM_020433.5(JPH2):c.1836C>G (p.Pro612=) rs988341308
NM_020433.5(JPH2):c.1845A>C (p.Ala615=)
NM_020433.5(JPH2):c.1845A>G (p.Ala615=)
NM_020433.5(JPH2):c.1857C>G (p.Pro619=)
NM_020433.5(JPH2):c.1857C>T (p.Pro619=)
NM_020433.5(JPH2):c.1872C>G (p.Pro624=)
NM_020433.5(JPH2):c.1893C>T (p.Ala631=) rs760865721
NM_020433.5(JPH2):c.1896G>A (p.Glu632=)
NM_020433.5(JPH2):c.1911C>T (p.Ala637=)
NM_020433.5(JPH2):c.1917G>A (p.Lys639=)
NM_020433.5(JPH2):c.1933C>T (p.Leu645=)
NM_020433.5(JPH2):c.1944G>A (p.Ala648=)
NM_020433.5(JPH2):c.1950C>A (p.Ala650=)
NM_020433.5(JPH2):c.1950C>G (p.Ala650=)
NM_020433.5(JPH2):c.1950C>T (p.Ala650=)
NM_020433.5(JPH2):c.1989G>A (p.Glu663=) rs995204674
NM_020433.5(JPH2):c.1992G>A (p.Ala664=) rs781384540
NM_020433.5(JPH2):c.2010+12G>A
NM_020433.5(JPH2):c.2010+8T>C
NM_020433.5(JPH2):c.2013C>G (p.Val671=)
NM_020433.5(JPH2):c.2070C>T (p.Leu690=)
NM_020433.5(JPH2):c.2085G>T (p.Leu695=)
NM_020433.5(JPH2):c.216G>T (p.Leu72=) rs1204338991
NM_020433.5(JPH2):c.234G>T (p.Gly78=)
NM_020433.5(JPH2):c.249G>A (p.Lys83=)
NM_020433.5(JPH2):c.255G>A (p.Glu85=)
NM_020433.5(JPH2):c.282C>T (p.Tyr94=)
NM_020433.5(JPH2):c.291G>T (p.Arg97=)
NM_020433.5(JPH2):c.300A>C (p.Ser100=)
NM_020433.5(JPH2):c.303C>T (p.Ser101=)
NM_020433.5(JPH2):c.327C>T (p.Thr109=)
NM_020433.5(JPH2):c.348C>T (p.Asp116=)
NM_020433.5(JPH2):c.360C>T (p.Thr120=)
NM_020433.5(JPH2):c.379+12T>C
NM_020433.5(JPH2):c.379+13G>A
NM_020433.5(JPH2):c.379+8362T>C
NM_020433.5(JPH2):c.379+8369C>T
NM_020433.5(JPH2):c.379+8370G>A
NM_020433.5(JPH2):c.379+9A>G
NM_020433.5(JPH2):c.380-16C>T
NM_020433.5(JPH2):c.380-18C>T rs559155501
NM_020433.5(JPH2):c.380-19G>T
NM_020433.5(JPH2):c.384G>A (p.Thr128=)
NM_020433.5(JPH2):c.435G>A (p.Gln145=) rs2145879710
NM_020433.5(JPH2):c.456C>T (p.Ala152=)
NM_020433.5(JPH2):c.468C>G (p.Arg156=) rs553395930
NM_020433.5(JPH2):c.471G>A (p.Ser157=)
NM_020433.5(JPH2):c.492G>A (p.Ser164=)
NM_020433.5(JPH2):c.495C>T (p.Ser165=) rs2072600997
NM_020433.5(JPH2):c.498G>A (p.Leu166=)
NM_020433.5(JPH2):c.519C>A (p.Gly173=)
NM_020433.5(JPH2):c.522G>T (p.Thr174=)
NM_020433.5(JPH2):c.525G>A (p.Val175=)
NM_020433.5(JPH2):c.528C>T (p.Ala176=)
NM_020433.5(JPH2):c.534C>T (p.Asp178=)
NM_020433.5(JPH2):c.540C>G (p.Pro180=)
NM_020433.5(JPH2):c.546G>C (p.Ser182=) rs1367650645
NM_020433.5(JPH2):c.549G>A (p.Pro183=)
NM_020433.5(JPH2):c.549G>T (p.Pro183=) rs1241788627
NM_020433.5(JPH2):c.558C>T (p.Asp186=)
NM_020433.5(JPH2):c.564C>T (p.Pro188=)
NM_020433.5(JPH2):c.567G>A (p.Ala189=)
NM_020433.5(JPH2):c.618C>A (p.Ala206=)
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.627G>A (p.Glu209=)
NM_020433.5(JPH2):c.630G>A (p.Ala210=)
NM_020433.5(JPH2):c.630G>T (p.Ala210=)
NM_020433.5(JPH2):c.688C>T (p.Leu230=)
NM_020433.5(JPH2):c.705G>A (p.Ser235=)
NM_020433.5(JPH2):c.711G>C (p.Thr237=)
NM_020433.5(JPH2):c.715G>C (p.Val239Leu)
NM_020433.5(JPH2):c.717G>A (p.Val239=) rs1555858753
NM_020433.5(JPH2):c.720T>C (p.Gly240=)
NM_020433.5(JPH2):c.732C>T (p.Ser244=)
NM_020433.5(JPH2):c.738C>G (p.Val246=)
NM_020433.5(JPH2):c.747T>C (p.Leu249=)
NM_020433.5(JPH2):c.759C>T (p.Leu253=)
NM_020433.5(JPH2):c.765G>T (p.Ser255=)
NM_020433.5(JPH2):c.774C>T (p.Ser258=)
NM_020433.5(JPH2):c.789C>T (p.Thr263=) rs1341184691
NM_020433.5(JPH2):c.831A>G (p.Ala277=)
NM_020433.5(JPH2):c.843C>A (p.Ala281=)
NM_020433.5(JPH2):c.846T>C (p.Asp282=) rs976324787
NM_020433.5(JPH2):c.849C>T (p.Ile283=)
NM_020433.5(JPH2):c.852C>T (p.Asp284=)
NM_020433.5(JPH2):c.891C>T (p.Asn297=) rs796364747
NM_020433.5(JPH2):c.897A>G (p.Lys299=)
NM_020433.5(JPH2):c.903G>A (p.Ser301=)
NM_020433.5(JPH2):c.915G>C (p.Val305=)
NM_020433.5(JPH2):c.930T>C (p.Ser310=)
NM_020433.5(JPH2):c.933C>T (p.Gly311=)
NM_020433.5(JPH2):c.942C>T (p.Tyr314=) rs1555858688
NM_020433.5(JPH2):c.963C>T (p.Asn321=)
NM_020433.5(JPH2):c.972C>T (p.His324=) rs757316297
NM_020433.5(JPH2):c.999C>T (p.Asp333=)
NM_020433.5(JPH2):c.9G>A (p.Gly3=)

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