ClinVar Miner

List of variants in gene INPP5E studied for Joubert syndrome

Included ClinVar conditions (64):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 191
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HGVS dbSNP
NC_000009.12:g.(?_136429675)_(136438954_?)del
NC_000009.12:g.(?_136434017)_(136439439_?)dup
NM_019892.6(INPP5E):c.*13G>A
NM_019892.6(INPP5E):c.*213C>T
NM_019892.6(INPP5E):c.*235A>G rs376604726
NM_019892.6(INPP5E):c.*328T>C rs35763810
NM_019892.6(INPP5E):c.*484C>G
NM_019892.6(INPP5E):c.*559C>T
NM_019892.6(INPP5E):c.*582C>T
NM_019892.6(INPP5E):c.*630G>A rs539039743
NM_019892.6(INPP5E):c.*703A>G rs1128874
NM_019892.6(INPP5E):c.*721C>T rs886063710
NM_019892.6(INPP5E):c.*727C>T rs886063709
NM_019892.6(INPP5E):c.*747T>C rs191248562
NM_019892.6(INPP5E):c.*763G>C rs564573606
NM_019892.6(INPP5E):c.*811G>A
NM_019892.6(INPP5E):c.*816A>G rs8413
NM_019892.6(INPP5E):c.*913T>C rs886063708
NM_019892.6(INPP5E):c.*926T>C rs1128877
NM_019892.6(INPP5E):c.*98G>A rs35873563
NM_019892.6(INPP5E):c.-149C>T
NM_019892.6(INPP5E):c.-174G>A rs544247720
NM_019892.6(INPP5E):c.-175C>T
NM_019892.6(INPP5E):c.-239C>G rs562519905
NM_019892.6(INPP5E):c.-271C>T rs886063714
NM_019892.6(INPP5E):c.-31G>C rs554931078
NM_019892.6(INPP5E):c.-343T>C rs886063715
NM_019892.6(INPP5E):c.-347G>A rs886063716
NM_019892.6(INPP5E):c.-41C>T
NM_019892.6(INPP5E):c.1009G>C (p.Gly337Arg)
NM_019892.6(INPP5E):c.1021G>A (p.Gly341Ser) rs780882740
NM_019892.6(INPP5E):c.1034+3A>T rs1564433976
NM_019892.6(INPP5E):c.1034+8G>A
NM_019892.6(INPP5E):c.1047G>A (p.Glu349=) rs752019065
NM_019892.6(INPP5E):c.1064C>T (p.Thr355Met) rs863225198
NM_019892.6(INPP5E):c.1074G>A (p.Pro358=)
NM_019892.6(INPP5E):c.107C>G (p.Ala36Gly)
NM_019892.6(INPP5E):c.1091C>T (p.Ser364Phe)
NM_019892.6(INPP5E):c.1095G>A (p.Ser365=)
NM_019892.6(INPP5E):c.1104C>T (p.His368=) rs148592275
NM_019892.6(INPP5E):c.1107C>T (p.Gly369=)
NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys) rs121918130
NM_019892.6(INPP5E):c.1136G>A (p.Arg379Lys) rs200518324
NM_019892.6(INPP5E):c.1154G>A (p.Cys385Tyr) rs863225200
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTAGAGG rs71269007
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTGGAGG rs71269007
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTGGAGGGGTGGGCGCGGCTGGAGG rs71269007
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTGGAGGGGTGGGCGTGGCTGGAGG rs71269007
NM_019892.6(INPP5E):c.1159+8C>T rs73566945
NM_019892.6(INPP5E):c.1159+8_1159+9insGGTGGGCGCAGCTGGAGG rs747240016
NM_019892.6(INPP5E):c.1162G>T (p.Val388Leu) rs863225201
NM_019892.6(INPP5E):c.1175C>T (p.Thr392Met)
NM_019892.6(INPP5E):c.1189A>G (p.Ile397Val)
NM_019892.6(INPP5E):c.1191C>T (p.Ile397=) rs558778286
NM_019892.6(INPP5E):c.1192G>A (p.Val398Met)
NM_019892.6(INPP5E):c.1198C>G (p.Gln400Glu)
NM_019892.6(INPP5E):c.11A>T (p.Lys4Met)
NM_019892.6(INPP5E):c.120C>T (p.Pro40=) rs377154166
NM_019892.6(INPP5E):c.1224C>T (p.Gly408=)
NM_019892.6(INPP5E):c.1248T>C (p.Thr416=) rs10781542
NM_019892.6(INPP5E):c.1249T>C (p.Ser417Pro) rs863225202
NM_019892.6(INPP5E):c.1275C>G (p.Phe425Leu)
NM_019892.6(INPP5E):c.1275C>T (p.Phe425=) rs780525765
NM_019892.6(INPP5E):c.1279+14T>C rs886063711
NM_019892.6(INPP5E):c.1284T>C (p.Gly428=) rs10870194
NM_019892.6(INPP5E):c.1299G>A (p.Ala433=) rs56931633
NM_019892.6(INPP5E):c.1304G>A (p.Arg435Gln) rs121918129
NM_019892.6(INPP5E):c.1313A>G (p.Asp438Gly)
NM_019892.6(INPP5E):c.1318A>G (p.Thr440Ala)
NM_019892.6(INPP5E):c.1319C>T (p.Thr440Ile)
NM_019892.6(INPP5E):c.1325C>T (p.Thr442Ile) rs201043370
NM_019892.6(INPP5E):c.1331A>G (p.Gln444Arg)
NM_019892.6(INPP5E):c.1354G>A (p.Val452Met) rs1554793007
NM_019892.6(INPP5E):c.1359C>T (p.Pro453=) rs35774078
NM_019892.6(INPP5E):c.1360G>A (p.Asp454Asn)
NM_019892.6(INPP5E):c.136G>A (p.Glu46Lys) rs886063713
NM_019892.6(INPP5E):c.1376G>A (p.Arg459His)
NM_019892.6(INPP5E):c.1380C>T (p.Ser460=) rs145543466
NM_019892.6(INPP5E):c.1384G>A (p.Ala462Thr) rs200837258
NM_019892.6(INPP5E):c.1388-13C>T rs78828148
NM_019892.6(INPP5E):c.1388-5C>T rs187956407
NM_019892.6(INPP5E):c.1388C>T (p.Ala463Val) rs199956627
NM_019892.6(INPP5E):c.1393G>A (p.Val465Ile)
NM_019892.6(INPP5E):c.1407C>T (p.Phe469=) rs377483407
NM_019892.6(INPP5E):c.1441C>T (p.Arg481Cys)
NM_019892.6(INPP5E):c.1452C>T (p.Gly484=)
NM_019892.6(INPP5E):c.1453G>A (p.Gly485Arg)
NM_019892.6(INPP5E):c.1456C>T (p.Arg486Cys) rs75939033
NM_019892.6(INPP5E):c.1468G>T (p.Asp490Tyr) rs757222534
NM_019892.6(INPP5E):c.1479G>A (p.Leu493=) rs754015058
NM_019892.6(INPP5E):c.1506G>A (p.Pro502=) rs74880446
NM_019892.6(INPP5E):c.1508C>T (p.Ala503Val)
NM_019892.6(INPP5E):c.1521C>T (p.His507=) rs10870188
NM_019892.6(INPP5E):c.1530C>T (p.Leu510=) rs780119172
NM_019892.6(INPP5E):c.1535G>A (p.Arg512Gln)
NM_019892.6(INPP5E):c.1543C>T (p.Arg515Trp) rs13297509
NM_019892.6(INPP5E):c.1547A>G (p.Lys516Arg)
NM_019892.6(INPP5E):c.1550-14C>T rs181576122
NM_019892.6(INPP5E):c.1565G>C (p.Gly522Ala) rs771866500
NM_019892.6(INPP5E):c.1577C>T (p.Pro526Leu) rs746867724
NM_019892.6(INPP5E):c.1615G>A (p.Gly539Arg)
NM_019892.6(INPP5E):c.1623C>T (p.Asp541=) rs77248046
NM_019892.6(INPP5E):c.1633A>G (p.Ser545Gly)
NM_019892.6(INPP5E):c.1649_1651dup (p.Arg550dup)
NM_019892.6(INPP5E):c.1684A>G (p.Ser562Gly) rs863225197
NM_019892.6(INPP5E):c.1686C>T (p.Ser562=)
NM_019892.6(INPP5E):c.1688G>A (p.Arg563His) rs121918128
NM_019892.6(INPP5E):c.1697G>A (p.Gly566Asp)
NM_019892.6(INPP5E):c.1716C>T (p.Ser572=) rs888610698
NM_019892.6(INPP5E):c.1730C>G (p.Pro577Arg) rs147967974
NM_019892.6(INPP5E):c.1732G>A (p.Gly578Arg) rs559636009
NM_019892.6(INPP5E):c.1742C>T (p.Thr581Met)
NM_019892.6(INPP5E):c.1743G>A (p.Thr581=) rs368026621
NM_019892.6(INPP5E):c.1747G>A (p.Asp583Asn)
NM_019892.6(INPP5E):c.1754G>A (p.Arg585His) rs752300607
NM_019892.6(INPP5E):c.1760del (p.Val587fs) rs775518991
NM_019892.6(INPP5E):c.1763A>G (p.Tyr588Cys) rs1564431175
NM_019892.6(INPP5E):c.1770C>T (p.Leu590=) rs143552175
NM_019892.6(INPP5E):c.1790C>T (p.Pro597Leu)
NM_019892.6(INPP5E):c.1791G>A (p.Pro597=) rs10870182
NM_019892.6(INPP5E):c.1791G>C (p.Pro597=) rs10870182
NM_019892.6(INPP5E):c.1794G>T (p.Gly598=) rs33982662
NM_019892.6(INPP5E):c.1796G>A (p.Arg599Gln)
NM_019892.6(INPP5E):c.1844T>G (p.Leu615Ter) rs1564430716
NM_019892.6(INPP5E):c.1846C>A (p.Leu616Ile) rs1564430711
NM_019892.6(INPP5E):c.1861C>T (p.Arg621Trp) rs142759730
NM_019892.6(INPP5E):c.1862G>T (p.Arg621Leu)
NM_019892.6(INPP5E):c.1875G>A (p.Glu625=) rs148539728
NM_019892.6(INPP5E):c.1897_1898del (p.Gln633fs) rs863225199
NM_019892.6(INPP5E):c.1919T>C (p.Ile640Thr) rs753001340
NM_019892.6(INPP5E):c.1922del (p.Cys641fs) rs1431917892
NM_019892.6(INPP5E):c.197G>A (p.Arg66Gln) rs778236228
NM_019892.6(INPP5E):c.211G>A (p.Ala71Thr)
NM_019892.6(INPP5E):c.21T>C (p.Asn7=) rs571588033
NM_019892.6(INPP5E):c.284G>A (p.Arg95His)
NM_019892.6(INPP5E):c.301G>C (p.Glu101Gln)
NM_019892.6(INPP5E):c.304G>T (p.Asp102Tyr) rs187724945
NM_019892.6(INPP5E):c.311A>T (p.Glu104Val)
NM_019892.6(INPP5E):c.322G>A (p.Gly108Arg)
NM_019892.6(INPP5E):c.335C>G (p.Ser112Cys)
NM_019892.6(INPP5E):c.33C>G (p.Ser11=) rs79161998
NM_019892.6(INPP5E):c.35A>G (p.Glu12Gly)
NM_019892.6(INPP5E):c.460C>T (p.Pro154Ser)
NM_019892.6(INPP5E):c.469G>T (p.Gly157Trp)
NM_019892.6(INPP5E):c.473G>A (p.Gly158Asp)
NM_019892.6(INPP5E):c.473dup (p.Gly158_Asn159insTer)
NM_019892.6(INPP5E):c.47A>G (p.Gln16Arg)
NM_019892.6(INPP5E):c.506C>T (p.Pro169Leu)
NM_019892.6(INPP5E):c.510C>G (p.Asn170Lys)
NM_019892.6(INPP5E):c.528C>T (p.Ala176=) rs561511490
NM_019892.6(INPP5E):c.531C>A (p.Ala177=) rs58206296
NM_019892.6(INPP5E):c.547C>T (p.Pro183Ser) rs754964359
NM_019892.6(INPP5E):c.554T>A (p.Leu185Gln) rs372412898
NM_019892.6(INPP5E):c.572C>G (p.Pro191Arg) rs61734181
NM_019892.6(INPP5E):c.580C>G (p.Pro194Ala)
NM_019892.6(INPP5E):c.583C>T (p.Pro195Ser)
NM_019892.6(INPP5E):c.593G>C (p.Ser198Thr)
NM_019892.6(INPP5E):c.603C>G (p.Ile201Met) rs36064831
NM_019892.6(INPP5E):c.623C>T (p.Thr208Ile) rs143107549
NM_019892.6(INPP5E):c.636C>A (p.Val212=) rs34071122
NM_019892.6(INPP5E):c.646C>A (p.Leu216Ile)
NM_019892.6(INPP5E):c.653A>C (p.Asp218Ala)
NM_019892.6(INPP5E):c.676C>T (p.Leu226Phe)
NM_019892.6(INPP5E):c.739G>T (p.Asp247Tyr)
NM_019892.6(INPP5E):c.748del (p.Leu250fs)
NM_019892.6(INPP5E):c.791G>A (p.Arg264His) rs202197173
NM_019892.6(INPP5E):c.808A>G (p.Ser270Gly)
NM_019892.6(INPP5E):c.812+3AGGG[3] rs5901103
NM_019892.6(INPP5E):c.812+4_812+6del
NM_019892.6(INPP5E):c.812+7_812+10del rs5901103
NM_019892.6(INPP5E):c.812+7_812+11delinsT
NM_019892.6(INPP5E):c.812+8_812+11del
NM_019892.6(INPP5E):c.813-5C>G rs186462782
NM_019892.6(INPP5E):c.813-8C>T rs373176644
NM_019892.6(INPP5E):c.832C>T (p.Leu278Phe)
NM_019892.6(INPP5E):c.844G>A (p.Gly282Arg)
NM_019892.6(INPP5E):c.874C>G (p.Arg292Gly)
NM_019892.6(INPP5E):c.875G>A (p.Arg292His) rs199873582
NM_019892.6(INPP5E):c.892A>T (p.Asn298Tyr)
NM_019892.6(INPP5E):c.906C>A (p.Phe302Leu)
NM_019892.6(INPP5E):c.906C>T (p.Phe302=) rs140222295
NM_019892.6(INPP5E):c.907G>A (p.Val303Met) rs746212325
NM_019892.6(INPP5E):c.92C>A (p.Pro31Gln)
NM_019892.6(INPP5E):c.944C>T (p.Pro315Leu) rs754637179
NM_019892.6(INPP5E):c.949A>G (p.Ser317Gly)
NM_019892.6(INPP5E):c.952C>A (p.Leu318Met)
NM_019892.6(INPP5E):c.972A>G (p.Pro324=) rs10870199
NM_019892.6(INPP5E):c.976G>A (p.Glu326Lys) rs200794870
NM_019892.6(INPP5E):c.981C>T (p.Ala327=) rs35498378
NM_019892.6(INPP5E):c.986A>T (p.Tyr329Phe)
NM_019892.6(INPP5E):c.997C>T (p.Leu333=) rs151090087

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