ClinVar Miner

List of variants in gene INPP5E studied for Joubert syndrome

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 91
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HGVS dbSNP
NM_019892.5(INPP5E):c.812+7_812+10delAGGG rs5901103
NM_019892.5(INPP5E):c.812+7_812+10dupAGGG rs5901103
NM_019892.6(INPP5E):c.*235A>G rs376604726
NM_019892.6(INPP5E):c.*328T>C rs35763810
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.*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.-174G>A rs544247720
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.1021G>A (p.Gly341Ser) rs780882740
NM_019892.6(INPP5E):c.1034+3A>T rs1564433976
NM_019892.6(INPP5E):c.1064C>T (p.Thr355Met) rs863225198
NM_019892.6(INPP5E):c.1104C>T (p.His368=) rs148592275
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+8insGGTGGGCGTGGCTGGAGG 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.1176G>A (p.Thr392=) rs528176529
NM_019892.6(INPP5E):c.1191C>T (p.Ile397=) rs558778286
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.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.1325C>T (p.Thr442Ile) rs201043370
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.136G>A (p.Glu46Lys) rs886063713
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.1407C>T (p.Phe469=) rs377483407
NM_019892.6(INPP5E):c.1468G>T (p.Asp490Tyr) rs757222534
NM_019892.6(INPP5E):c.1470C>T (p.Asp490=) rs375301475
NM_019892.6(INPP5E):c.1506G>A (p.Pro502=) rs74880446
NM_019892.6(INPP5E):c.1521C>T (p.His507=) rs10870188
NM_019892.6(INPP5E):c.1543C>T (p.Arg515Trp) rs13297509
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.1684A>G (p.Ser562Gly) rs863225197
NM_019892.6(INPP5E):c.1688G>A (p.Arg563His) rs121918128
NM_019892.6(INPP5E):c.1730C>G (p.Pro577Arg) rs147967974
NM_019892.6(INPP5E):c.1743G>A (p.Thr581=) rs368026621
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.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.1844T>G (p.Leu615Ter) rs1564430716
NM_019892.6(INPP5E):c.1846C>A (p.Leu616Ile) rs1564430711
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)
NM_019892.6(INPP5E):c.21T>C (p.Asn7=) rs571588033
NM_019892.6(INPP5E):c.33C>G (p.Ser11=) rs79161998
NM_019892.6(INPP5E):c.516G>T (p.Pro172=) rs372551521
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.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.791G>A (p.Arg264His) rs202197173
NM_019892.6(INPP5E):c.813-5C>G rs186462782
NM_019892.6(INPP5E):c.813-8C>T rs373176644
NM_019892.6(INPP5E):c.907G>A (p.Val303Met) rs746212325
NM_019892.6(INPP5E):c.944C>T (p.Pro315Leu) rs754637179
NM_019892.6(INPP5E):c.972A>G (p.Pro324=) rs10870199
NM_019892.6(INPP5E):c.981C>T (p.Ala327=) rs35498378

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