ClinVar Miner

List of variants in gene INPP5E reported as uncertain significance for Joubert syndrome 1

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 328
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HGVS dbSNP gnomAD frequency
NM_019892.6(INPP5E):c.-239C>G rs562519905 0.00588
NM_019892.6(INPP5E):c.1730C>G (p.Pro577Arg) rs147967974 0.00405
NM_019892.6(INPP5E):c.812+4_812+6del rs1405338334 0.00309
NM_019892.6(INPP5E):c.623C>T (p.Thr208Ile) rs143107549 0.00177
NM_019892.6(INPP5E):c.21T>C (p.Asn7=) rs571588033 0.00135
NM_019892.6(INPP5E):c.1506G>A (p.Pro502=) rs74880446 0.00100
NM_019892.6(INPP5E):c.*630G>A rs539039743 0.00071
NM_019892.6(INPP5E):c.813-8C>T rs373176644 0.00061
NM_019892.6(INPP5E):c.469G>T (p.Gly157Trp) rs78211353 0.00057
NM_019892.6(INPP5E):c.*747T>C rs191248562 0.00054
NM_019892.6(INPP5E):c.1360G>A (p.Asp454Asn) rs138150684 0.00033
NM_019892.6(INPP5E):c.*811G>A rs778109117 0.00031
NM_019892.6(INPP5E):c.1191C>T (p.Ile397=) rs558778286 0.00029
NM_019892.6(INPP5E):c.875G>A (p.Arg292His) rs199873582 0.00027
NM_019892.6(INPP5E):c.460C>T (p.Pro154Ser) rs565209005 0.00026
NM_019892.6(INPP5E):c.*235A>G rs376604726 0.00020
NM_019892.6(INPP5E):c.-347G>A rs886063716 0.00016
NM_019892.6(INPP5E):c.554T>A (p.Leu185Gln) rs372412898 0.00013
NM_019892.6(INPP5E):c.1136G>A (p.Arg379Lys) rs200518324 0.00012
NM_019892.6(INPP5E):c.65C>G (p.Thr22Arg) rs556184252 0.00012
NM_019892.6(INPP5E):c.-271C>T rs886063714 0.00011
NM_019892.6(INPP5E):c.586G>T (p.Ala196Ser) rs376043087 0.00011
NM_019892.6(INPP5E):c.1457G>A (p.Arg486His) rs367592401 0.00010
NM_019892.6(INPP5E):c.304G>T (p.Asp102Tyr) rs187724945 0.00009
NM_019892.6(INPP5E):c.799G>A (p.Asp267Asn) rs750943687 0.00008
NM_019892.6(INPP5E):c.1384G>A (p.Ala462Thr) rs200837258 0.00007
NM_019892.6(INPP5E):c.1652C>T (p.Thr551Met) rs75342839 0.00007
NM_019892.6(INPP5E):c.532G>A (p.Val178Met) rs376003129 0.00007
NM_019892.6(INPP5E):c.106_126dup (p.Ala36_Ala42dup) rs1240005643 0.00006
NM_019892.6(INPP5E):c.1104C>T (p.His368=) rs148592275 0.00006
NM_019892.6(INPP5E):c.1325C>T (p.Thr442Ile) rs201043370 0.00006
NM_019892.6(INPP5E):c.1380C>T (p.Ser460=) rs145543466 0.00006
NM_019892.6(INPP5E):c.1388C>T (p.Ala463Val) rs199956627 0.00006
NM_019892.6(INPP5E):c.311A>T (p.Glu104Val) rs748786705 0.00006
NM_019892.6(INPP5E):c.392C>T (p.Pro131Leu) rs756921162 0.00006
NM_019892.6(INPP5E):c.764C>A (p.Ser255Tyr) rs368817877 0.00006
NM_019892.6(INPP5E):c.1051C>T (p.Arg351Cys) rs764667114 0.00005
NM_019892.6(INPP5E):c.580C>G (p.Pro194Ala) rs200223403 0.00005
NM_019892.6(INPP5E):c.746C>T (p.Ser249Phe) rs550485638 0.00005
NM_019892.6(INPP5E):c.878A>T (p.Tyr293Phe) rs145264797 0.00005
NM_019892.6(INPP5E):c.*13G>A rs199734968 0.00004
NM_019892.6(INPP5E):c.*763G>C rs564573606 0.00004
NM_019892.6(INPP5E):c.-175C>T rs868202242 0.00004
NM_019892.6(INPP5E):c.1036C>T (p.Arg346Trp) rs767855660 0.00004
NM_019892.6(INPP5E):c.10A>C (p.Lys4Gln) rs894617448 0.00004
NM_019892.6(INPP5E):c.1189A>G (p.Ile397Val) rs140705002 0.00004
NM_019892.6(INPP5E):c.1192G>A (p.Val398Met) rs200033750 0.00004
NM_019892.6(INPP5E):c.121G>A (p.Asp41Asn) rs778156063 0.00004
NM_019892.6(INPP5E):c.1388-5C>T rs187956407 0.00004
NM_019892.6(INPP5E):c.1389G>A (p.Ala463=) rs779735920 0.00004
NM_019892.6(INPP5E):c.301G>C (p.Glu101Gln) rs566641584 0.00004
NM_019892.6(INPP5E):c.331C>T (p.Pro111Ser) rs766472975 0.00004
NM_019892.6(INPP5E):c.510C>G (p.Asn170Lys) rs778210239 0.00004
NM_019892.6(INPP5E):c.593G>C (p.Ser198Thr) rs141286608 0.00004
NM_019892.6(INPP5E):c.655T>G (p.Tyr219Asp) rs374690864 0.00004
NM_019892.6(INPP5E):c.754T>C (p.Ser252Pro) rs775406790 0.00004
NM_019892.6(INPP5E):c.*913T>C rs886063708 0.00003
NM_019892.6(INPP5E):c.1162G>T (p.Val388Leu) rs863225201 0.00003
NM_019892.6(INPP5E):c.1534C>T (p.Arg512Trp) rs374152018 0.00003
NM_019892.6(INPP5E):c.322G>A (p.Gly108Arg) rs757082393 0.00003
NM_019892.6(INPP5E):c.422C>A (p.Pro141His) rs954591293 0.00003
NM_019892.6(INPP5E):c.583C>T (p.Pro195Ser) rs765819603 0.00003
NM_019892.6(INPP5E):c.685C>T (p.Arg229Trp) rs774085718 0.00003
NM_019892.6(INPP5E):c.752G>C (p.Arg251Pro) rs201792737 0.00003
NM_019892.6(INPP5E):c.872C>T (p.Ala291Val) rs759397125 0.00003
NC_000009.12:g.136439418_136439426dup rs1489150239 0.00002
NM_019892.6(INPP5E):c.*213C>T rs544203657 0.00002
NM_019892.6(INPP5E):c.1108G>A (p.Val370Met) rs147531141 0.00002
NM_019892.6(INPP5E):c.1298C>T (p.Ala433Val) rs1022640639 0.00002
NM_019892.6(INPP5E):c.1393G>A (p.Val465Ile) rs750331066 0.00002
NM_019892.6(INPP5E):c.1402C>T (p.Arg468Cys) rs375909217 0.00002
NM_019892.6(INPP5E):c.1403G>A (p.Arg468His) rs112089228 0.00002
NM_019892.6(INPP5E):c.1407C>T (p.Phe469=) rs377483407 0.00002
NM_019892.6(INPP5E):c.1441C>T (p.Arg481Cys) rs761179746 0.00002
NM_019892.6(INPP5E):c.1465G>A (p.Val489Met) rs781083748 0.00002
NM_019892.6(INPP5E):c.1535G>A (p.Arg512Gln) rs750777734 0.00002
NM_019892.6(INPP5E):c.1544G>A (p.Arg515Gln) rs752106876 0.00002
NM_019892.6(INPP5E):c.161C>T (p.Thr54Ile) rs1234082483 0.00002
NM_019892.6(INPP5E):c.1666-12A>G rs372545147 0.00002
NM_019892.6(INPP5E):c.1732G>A (p.Gly578Arg) rs559636009 0.00002
NM_019892.6(INPP5E):c.1742C>T (p.Thr581Met) rs943471686 0.00002
NM_019892.6(INPP5E):c.1868C>T (p.Ser623Leu) rs754887212 0.00002
NM_019892.6(INPP5E):c.18G>C (p.Glu6Asp) rs1461388293 0.00002
NM_019892.6(INPP5E):c.676C>T (p.Leu226Phe) rs761485683 0.00002
NM_019892.6(INPP5E):c.958G>A (p.Glu320Lys) rs1254993477 0.00002
NM_019892.6(INPP5E):c.982G>A (p.Asp328Asn) rs201857820 0.00002
NM_019892.6(INPP5E):c.*721C>T rs886063710 0.00001
NM_019892.6(INPP5E):c.-41C>T rs1170873095 0.00001
NM_019892.6(INPP5E):c.1021G>A (p.Gly341Ser) rs780882740 0.00001
NM_019892.6(INPP5E):c.1028C>A (p.Ser343Tyr) rs1442522957 0.00001
NM_019892.6(INPP5E):c.1058A>G (p.Gln353Arg) rs1835756247 0.00001
NM_019892.6(INPP5E):c.107C>G (p.Ala36Gly) rs771207750 0.00001
NM_019892.6(INPP5E):c.1105G>A (p.Gly369Ser) rs750574856 0.00001
NM_019892.6(INPP5E):c.1126T>C (p.Phe376Leu) rs1835753606 0.00001
NM_019892.6(INPP5E):c.1160-6C>A rs373495219 0.00001
NM_019892.6(INPP5E):c.1198C>G (p.Gln400Glu) rs147285345 0.00001
NM_019892.6(INPP5E):c.1288G>A (p.Gly430Arg) rs1203074338 0.00001
NM_019892.6(INPP5E):c.1318A>G (p.Thr440Ala) rs752497011 0.00001
NM_019892.6(INPP5E):c.1331A>G (p.Gln444Arg) rs545195109 0.00001
NM_019892.6(INPP5E):c.1375C>T (p.Arg459Cys) rs1042895970 0.00001
NM_019892.6(INPP5E):c.1376G>A (p.Arg459His) rs770146958 0.00001
NM_019892.6(INPP5E):c.1453G>A (p.Gly485Arg) rs768384414 0.00001
NM_019892.6(INPP5E):c.1530C>T (p.Leu510=) rs780119172 0.00001
NM_019892.6(INPP5E):c.163C>G (p.Pro55Ala) rs1302116437 0.00001
NM_019892.6(INPP5E):c.1665G>A (p.Thr555=) rs774331779 0.00001
NM_019892.6(INPP5E):c.1669C>T (p.Arg557Cys) rs1024279229 0.00001
NM_019892.6(INPP5E):c.1686C>T (p.Ser562=) rs760729838 0.00001
NM_019892.6(INPP5E):c.1687C>T (p.Arg563Cys) rs371960390 0.00001
NM_019892.6(INPP5E):c.1700A>T (p.Asp567Val) rs779177166 0.00001
NM_019892.6(INPP5E):c.1787G>C (p.Arg596Thr) rs765327224 0.00001
NM_019892.6(INPP5E):c.1808C>T (p.Pro603Leu) rs746372090 0.00001
NM_019892.6(INPP5E):c.1919T>C (p.Ile640Thr) rs753001340 0.00001
NM_019892.6(INPP5E):c.197G>A (p.Arg66Gln) rs778236228 0.00001
NM_019892.6(INPP5E):c.208A>G (p.Ile70Val) rs1202573963 0.00001
NM_019892.6(INPP5E):c.211G>A (p.Ala71Thr) rs1835927935 0.00001
NM_019892.6(INPP5E):c.266A>G (p.Lys89Arg) rs909863600 0.00001
NM_019892.6(INPP5E):c.302A>G (p.Glu101Gly) rs1835922640 0.00001
NM_019892.6(INPP5E):c.314C>T (p.Ala105Val) rs779751422 0.00001
NM_019892.6(INPP5E):c.341G>A (p.Gly114Asp) rs1295096267 0.00001
NM_019892.6(INPP5E):c.35A>G (p.Glu12Gly) rs1029781765 0.00001
NM_019892.6(INPP5E):c.450G>C (p.Glu150Asp) rs1336319671 0.00001
NM_019892.6(INPP5E):c.473G>A (p.Gly158Asp) rs1455781081 0.00001
NM_019892.6(INPP5E):c.479C>G (p.Pro160Arg) rs774738007 0.00001
NM_019892.6(INPP5E):c.47A>G (p.Gln16Arg) rs1835934684 0.00001
NM_019892.6(INPP5E):c.506C>T (p.Pro169Leu) rs1232108345 0.00001
NM_019892.6(INPP5E):c.53C>T (p.Pro18Leu) rs1295075168 0.00001
NM_019892.6(INPP5E):c.547C>T (p.Pro183Ser) rs754964359 0.00001
NM_019892.6(INPP5E):c.739G>T (p.Asp247Tyr) rs749897420 0.00001
NM_019892.6(INPP5E):c.860C>T (p.Ala287Val) rs752406011 0.00001
NM_019892.6(INPP5E):c.892A>T (p.Asn298Tyr) rs1835793809 0.00001
NM_019892.6(INPP5E):c.964C>A (p.Leu322Met) rs1451261136 0.00001
NC_000009.11:g.(?_139328469)_(139333871_?)dup
NC_000009.12:g.(?_136434017)_(136439439_?)dup
NM_019892.6(INPP5E):c.*484C>G rs1358870988
NM_019892.6(INPP5E):c.*559C>T rs1835639348
NM_019892.6(INPP5E):c.*582C>T rs931605716
NM_019892.6(INPP5E):c.*727C>T rs886063709
NM_019892.6(INPP5E):c.-149C>T rs1386453934
NM_019892.6(INPP5E):c.-343T>C rs886063715
NM_019892.6(INPP5E):c.1003G>C (p.Val335Leu)
NM_019892.6(INPP5E):c.1009G>C (p.Gly337Arg) rs368235861
NM_019892.6(INPP5E):c.1034+3A>T rs1564433976
NM_019892.6(INPP5E):c.1034+8G>A rs201272028
NM_019892.6(INPP5E):c.1037G>A (p.Arg346Gln)
NM_019892.6(INPP5E):c.103C>T (p.Arg35Cys)
NM_019892.6(INPP5E):c.1045G>A (p.Glu349Lys) rs2131609390
NM_019892.6(INPP5E):c.1064_1065insTCGTCTGCAGGACAC (p.Thr355_Leu356insArgLeuGlnAspThr) rs1835756153
NM_019892.6(INPP5E):c.1074G>A (p.Pro358=) rs746782404
NM_019892.6(INPP5E):c.107C>T (p.Ala36Val)
NM_019892.6(INPP5E):c.1094C>T (p.Ser365Leu) rs1388522044
NM_019892.6(INPP5E):c.1111C>T (p.Leu371Phe) rs2131609205
NM_019892.6(INPP5E):c.1117A>G (p.Met373Val)
NM_019892.6(INPP5E):c.1118T>C (p.Met373Thr) rs971174374
NM_019892.6(INPP5E):c.1123C>T (p.Leu375Phe) rs2131609184
NM_019892.6(INPP5E):c.1138G>A (p.Asp380Asn) rs770456201
NM_019892.6(INPP5E):c.1159+16_1159+33del rs1239490197
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTGGAGGGGTGGGCGCGGCTGAAGG rs71269007
NM_019892.6(INPP5E):c.1160-12C>T
NM_019892.6(INPP5E):c.1160A>G (p.Glu387Gly)
NM_019892.6(INPP5E):c.1172C>G (p.Ser391Cys)
NM_019892.6(INPP5E):c.1175C>G (p.Thr392Arg)
NM_019892.6(INPP5E):c.1175C>T (p.Thr392Met) rs771142015
NM_019892.6(INPP5E):c.1188C>G (p.Arg396=)
NM_019892.6(INPP5E):c.1191C>A (p.Ile397=) rs558778286
NM_019892.6(INPP5E):c.11A>T (p.Lys4Met) rs1057306367
NM_019892.6(INPP5E):c.1267T>C (p.Ser423Pro) rs2131608631
NM_019892.6(INPP5E):c.1275C>G (p.Phe425Leu) rs780525765
NM_019892.6(INPP5E):c.1279+14T>C rs886063711
NM_019892.6(INPP5E):c.1283G>T (p.Gly428Val) rs1427552852
NM_019892.6(INPP5E):c.1292A>G (p.Lys431Arg)
NM_019892.6(INPP5E):c.1294G>A (p.Val432Met)
NM_019892.6(INPP5E):c.1312G>C (p.Asp438His) rs1835733198
NM_019892.6(INPP5E):c.1313A>G (p.Asp438Gly) rs1167225330
NM_019892.6(INPP5E):c.1319C>T (p.Thr440Ile) rs1835732946
NM_019892.6(INPP5E):c.131G>T (p.Gly44Val)
NM_019892.6(INPP5E):c.1333G>A (p.Ala445Thr)
NM_019892.6(INPP5E):c.1354G>A (p.Val452Met) rs1554793007
NM_019892.6(INPP5E):c.1364C>A (p.Thr455Asn) rs763184550
NM_019892.6(INPP5E):c.136G>A (p.Glu46Lys) rs886063713
NM_019892.6(INPP5E):c.1387+5G>C rs2131607798
NM_019892.6(INPP5E):c.139A>G (p.Ser47Gly)
NM_019892.6(INPP5E):c.1408G>A (p.Asp470Asn)
NM_019892.6(INPP5E):c.1433T>G (p.Phe478Cys)
NM_019892.6(INPP5E):c.1441C>A (p.Arg481Ser) rs761179746
NM_019892.6(INPP5E):c.1465G>T (p.Val489Leu)
NM_019892.6(INPP5E):c.1469A>T (p.Asp490Val) rs1835715112
NM_019892.6(INPP5E):c.146C>T (p.Ala49Val)
NM_019892.6(INPP5E):c.1478T>C (p.Leu493Pro)
NM_019892.6(INPP5E):c.1479G>A (p.Leu493=) rs754015058
NM_019892.6(INPP5E):c.14C>A (p.Ala5Glu)
NM_019892.6(INPP5E):c.1501G>A (p.Val501Met)
NM_019892.6(INPP5E):c.1501G>C (p.Val501Leu) rs370876407
NM_019892.6(INPP5E):c.1501G>T (p.Val501Leu)
NM_019892.6(INPP5E):c.1505C>T (p.Pro502Leu) rs769531967
NM_019892.6(INPP5E):c.1508C>T (p.Ala503Val) rs370661476
NM_019892.6(INPP5E):c.1521C>G (p.His507Gln)
NM_019892.6(INPP5E):c.1522G>A (p.Asp508Asn) rs1246194868
NM_019892.6(INPP5E):c.1531_1532delinsCA (p.Ile511His) rs1835712336
NM_019892.6(INPP5E):c.1535G>T (p.Arg512Leu) rs750777734
NM_019892.6(INPP5E):c.1547A>G (p.Lys516Arg) rs13294000
NM_019892.6(INPP5E):c.1549+4A>G
NM_019892.6(INPP5E):c.1550-5G>A
NM_019892.6(INPP5E):c.1561A>G (p.Lys521Glu)
NM_019892.6(INPP5E):c.1581C>A (p.Asp527Glu)
NM_019892.6(INPP5E):c.1590C>G (p.Phe530Leu) rs531628363
NM_019892.6(INPP5E):c.161C>G (p.Thr54Ser) rs1234082483
NM_019892.6(INPP5E):c.1633A>G (p.Ser545Gly) rs1835687019
NM_019892.6(INPP5E):c.163C>A (p.Pro55Thr) rs1302116437
NM_019892.6(INPP5E):c.1649G>C (p.Arg550Thr)
NM_019892.6(INPP5E):c.1649_1651dup (p.Arg550dup) rs778019120
NM_019892.6(INPP5E):c.1664C>T (p.Thr555Met) rs761578787
NM_019892.6(INPP5E):c.1665+3G>A rs2131605615
NM_019892.6(INPP5E):c.166G>C (p.Ala56Pro) rs987360153
NM_019892.6(INPP5E):c.1672G>A (p.Val558Ile) rs1417022247
NM_019892.6(INPP5E):c.1694A>G (p.Lys565Arg)
NM_019892.6(INPP5E):c.170C>A (p.Thr57Lys)
NM_019892.6(INPP5E):c.1729C>T (p.Pro577Ser) rs1352231723
NM_019892.6(INPP5E):c.1737C>G (p.Ile579Met) rs2131604828
NM_019892.6(INPP5E):c.1743G>A (p.Thr581=) rs368026621
NM_019892.6(INPP5E):c.1763A>G (p.Tyr588Cys) rs1564431175
NM_019892.6(INPP5E):c.1775G>A (p.Arg592Gln)
NM_019892.6(INPP5E):c.1791G>C (p.Pro597=) rs10870182
NM_019892.6(INPP5E):c.181G>A (p.Glu61Lys) rs1835929956
NM_019892.6(INPP5E):c.1820G>A (p.Gly607Asp)
NM_019892.6(INPP5E):c.1830T>A (p.Asp610Glu) rs199875003
NM_019892.6(INPP5E):c.1846C>A (p.Leu616Ile) rs1564430711
NM_019892.6(INPP5E):c.1849G>A (p.Gly617Arg) rs1477067987
NM_019892.6(INPP5E):c.220C>G (p.Pro74Ala) rs755881439
NM_019892.6(INPP5E):c.223C>T (p.Pro75Ser) rs2131619729
NM_019892.6(INPP5E):c.236G>C (p.Arg79Pro)
NM_019892.6(INPP5E):c.262G>T (p.Asp88Tyr) rs894770887
NM_019892.6(INPP5E):c.268G>A (p.Gly90Ser)
NM_019892.6(INPP5E):c.26G>T (p.Arg9Leu)
NM_019892.6(INPP5E):c.271T>G (p.Trp91Gly)
NM_019892.6(INPP5E):c.274AGG[4] (p.Arg95dup) rs748503945
NM_019892.6(INPP5E):c.278G>C (p.Arg93Thr) rs2131619490
NM_019892.6(INPP5E):c.281G>C (p.Arg94Thr)
NM_019892.6(INPP5E):c.284G>A (p.Arg95His) rs192637923
NM_019892.6(INPP5E):c.304G>A (p.Asp102Asn)
NM_019892.6(INPP5E):c.310G>C (p.Glu104Gln) rs1405900741
NM_019892.6(INPP5E):c.316C>T (p.Arg106Trp) rs755788855
NM_019892.6(INPP5E):c.319A>C (p.Asn107His) rs2131619339
NM_019892.6(INPP5E):c.326C>A (p.Thr109Asn)
NM_019892.6(INPP5E):c.335C>G (p.Ser112Cys) rs1295932398
NM_019892.6(INPP5E):c.338G>A (p.Arg113Lys) rs2131619250
NM_019892.6(INPP5E):c.34G>C (p.Glu12Gln) rs1835935570
NM_019892.6(INPP5E):c.361C>T (p.Pro121Ser)
NM_019892.6(INPP5E):c.364G>A (p.Gly122Arg)
NM_019892.6(INPP5E):c.368C>T (p.Ala123Val)
NM_019892.6(INPP5E):c.36G>C (p.Glu12Asp)
NM_019892.6(INPP5E):c.377A>G (p.His126Arg)
NM_019892.6(INPP5E):c.386C>G (p.Ser129Cys) rs745450500
NM_019892.6(INPP5E):c.38C>T (p.Pro13Leu)
NM_019892.6(INPP5E):c.394T>G (p.Cys132Gly)
NM_019892.6(INPP5E):c.431G>A (p.Arg144His)
NM_019892.6(INPP5E):c.44C>T (p.Pro15Leu) rs2131620295
NM_019892.6(INPP5E):c.454G>A (p.Gly152Arg)
NM_019892.6(INPP5E):c.469G>C (p.Gly157Arg)
NM_019892.6(INPP5E):c.477C>G (p.Asn159Lys)
NM_019892.6(INPP5E):c.478C>G (p.Pro160Ala) rs2131618678
NM_019892.6(INPP5E):c.4C>T (p.Pro2Ser) rs1399373117
NM_019892.6(INPP5E):c.500G>A (p.Ser167Asn)
NM_019892.6(INPP5E):c.511C>T (p.Leu171Phe) rs1835911218
NM_019892.6(INPP5E):c.519C>G (p.His173Gln) rs1835910820
NM_019892.6(INPP5E):c.521G>T (p.Arg174Ile) rs1835910612
NM_019892.6(INPP5E):c.530C>T (p.Ala177Val)
NM_019892.6(INPP5E):c.561C>G (p.Ser187Arg)
NM_019892.6(INPP5E):c.572C>T (p.Pro191Leu)
NM_019892.6(INPP5E):c.577C>T (p.Pro193Ser)
NM_019892.6(INPP5E):c.580C>T (p.Pro194Ser)
NM_019892.6(INPP5E):c.584C>T (p.Pro195Leu)
NM_019892.6(INPP5E):c.587C>T (p.Ala196Val)
NM_019892.6(INPP5E):c.604G>C (p.Ala202Pro)
NM_019892.6(INPP5E):c.608C>G (p.Ser203Cys) rs1214397440
NM_019892.6(INPP5E):c.610G>T (p.Asp204Tyr)
NM_019892.6(INPP5E):c.613T>C (p.Ser205Pro) rs1216505048
NM_019892.6(INPP5E):c.61A>T (p.Arg21Trp) rs886042814
NM_019892.6(INPP5E):c.623C>A (p.Thr208Lys) rs143107549
NM_019892.6(INPP5E):c.635T>G (p.Val212Gly)
NM_019892.6(INPP5E):c.638A>C (p.Asp213Ala)
NM_019892.6(INPP5E):c.646C>A (p.Leu216Ile) rs994157744
NM_019892.6(INPP5E):c.650C>G (p.Ala217Gly)
NM_019892.6(INPP5E):c.653A>C (p.Asp218Ala) rs753519048
NM_019892.6(INPP5E):c.683T>G (p.Val228Gly)
NM_019892.6(INPP5E):c.692A>T (p.His231Leu) rs779854628
NM_019892.6(INPP5E):c.698G>C (p.Ser233Thr)
NM_019892.6(INPP5E):c.712C>T (p.Arg238Trp)
NM_019892.6(INPP5E):c.713G>A (p.Arg238Gln) rs760298042
NM_019892.6(INPP5E):c.724C>T (p.Pro242Ser) rs1835897617
NM_019892.6(INPP5E):c.733T>C (p.Cys245Arg)
NM_019892.6(INPP5E):c.746C>G (p.Ser249Cys) rs550485638
NM_019892.6(INPP5E):c.752G>A (p.Arg251His)
NM_019892.6(INPP5E):c.757G>C (p.Ala253Pro)
NM_019892.6(INPP5E):c.764C>T (p.Ser255Phe) rs368817877
NM_019892.6(INPP5E):c.770T>C (p.Phe257Ser)
NM_019892.6(INPP5E):c.775C>A (p.Leu259Ile)
NM_019892.6(INPP5E):c.808A>G (p.Ser270Gly) rs1564436564
NM_019892.6(INPP5E):c.812+3AGGG[3] rs5901103
NM_019892.6(INPP5E):c.812+7_812+11delinsT rs1835891960
NM_019892.6(INPP5E):c.812+8_812+11del rs1216101553
NM_019892.6(INPP5E):c.815G>T (p.Ser272Ile)
NM_019892.6(INPP5E):c.818A>C (p.Tyr273Ser)
NM_019892.6(INPP5E):c.82C>G (p.Pro28Ala)
NM_019892.6(INPP5E):c.832C>T (p.Leu278Phe) rs1835795799
NM_019892.6(INPP5E):c.847G>T (p.Ala283Ser) rs1310994013
NM_019892.6(INPP5E):c.856G>A (p.Gly286Arg)
NM_019892.6(INPP5E):c.890G>A (p.Arg297Gln)
NM_019892.6(INPP5E):c.89C>T (p.Ala30Val)
NM_019892.6(INPP5E):c.906C>A (p.Phe302Leu) rs140222295
NM_019892.6(INPP5E):c.907G>T (p.Val303Leu) rs746212325
NM_019892.6(INPP5E):c.909G>A (p.Val303=)
NM_019892.6(INPP5E):c.916T>G (p.Trp306Gly)
NM_019892.6(INPP5E):c.91C>G (p.Pro31Ala)
NM_019892.6(INPP5E):c.92C>A (p.Pro31Gln) rs1835933216
NM_019892.6(INPP5E):c.931C>G (p.Gln311Glu) rs2131611242
NM_019892.6(INPP5E):c.934_936del (p.Lys312del)
NM_019892.6(INPP5E):c.936+4_936+5dup rs2131611229
NM_019892.6(INPP5E):c.937-3C>T rs1404421521
NM_019892.6(INPP5E):c.939G>T (p.Glu313Asp)
NM_019892.6(INPP5E):c.940C>T (p.Leu314Phe)
NM_019892.6(INPP5E):c.949A>G (p.Ser317Gly) rs1186646391
NM_019892.6(INPP5E):c.950G>A (p.Ser317Asn)
NM_019892.6(INPP5E):c.952C>A (p.Leu318Met) rs1835775767
NM_019892.6(INPP5E):c.957C>A (p.Asp319Glu)
NM_019892.6(INPP5E):c.95C>G (p.Pro32Arg) rs1018506310
NM_019892.6(INPP5E):c.95C>T (p.Pro32Leu) rs1018506310
NM_019892.6(INPP5E):c.971_972inv (p.Pro324Leu)
NM_019892.6(INPP5E):c.986A>T (p.Tyr329Phe) rs372066816

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