ClinVar Miner

List of variants in gene INPP5E reported as likely benign for Joubert syndrome 1

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 246
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_019892.6(INPP5E):c.*98G>A rs35873563 0.20643
NM_019892.6(INPP5E):c.*926T>C rs1128877 0.10951
NM_019892.6(INPP5E):c.-174G>A rs544247720 0.01935
NM_019892.6(INPP5E):c.603C>G (p.Ile201Met) rs36064831 0.01896
NM_019892.6(INPP5E):c.636C>A (p.Val212=) rs34071122 0.01252
NM_019892.6(INPP5E):c.-31G>C rs554931078 0.00466
NM_019892.6(INPP5E):c.813-5C>G rs186462782 0.00238
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.1623C>T (p.Asp541=) rs77248046 0.00068
NM_019892.6(INPP5E):c.1803-20C>T rs190316580 0.00057
NM_019892.6(INPP5E):c.469G>T (p.Gly157Trp) rs78211353 0.00057
NM_019892.6(INPP5E):c.1464C>T (p.Val488=) rs140255426 0.00037
NM_019892.6(INPP5E):c.1666-19C>T rs374671289 0.00036
NM_019892.6(INPP5E):c.217C>T (p.Arg73Trp) rs779841260 0.00031
NM_019892.6(INPP5E):c.430C>G (p.Arg144Gly) rs1479443394 0.00031
NM_019892.6(INPP5E):c.1191C>T (p.Ile397=) rs558778286 0.00029
NM_019892.6(INPP5E):c.812+16C>T rs756756387 0.00019
NM_019892.6(INPP5E):c.1549+18C>T rs372446887 0.00017
NM_019892.6(INPP5E):c.323G>A (p.Gly108Glu) rs562484803 0.00015
NM_019892.6(INPP5E):c.1387+8C>T rs374620221 0.00013
NM_019892.6(INPP5E):c.1697G>A (p.Gly566Asp) rs140543689 0.00013
NM_019892.6(INPP5E):c.813-9C>A rs771055995 0.00013
NM_019892.6(INPP5E):c.1136G>A (p.Arg379Lys) rs200518324 0.00012
NM_019892.6(INPP5E):c.1176G>A (p.Thr392=) rs528176529 0.00009
NM_019892.6(INPP5E):c.1494G>A (p.Val498=) rs138525676 0.00009
NM_019892.6(INPP5E):c.304G>T (p.Asp102Tyr) rs187724945 0.00009
NM_019892.6(INPP5E):c.588C>T (p.Ala196=) rs368034918 0.00008
NM_019892.6(INPP5E):c.1387+9G>A rs202236947 0.00007
NM_019892.6(INPP5E):c.1410T>C (p.Asp470=) rs138552060 0.00007
NM_019892.6(INPP5E):c.1549+19G>A rs547569007 0.00007
NM_019892.6(INPP5E):c.1104C>T (p.His368=) rs148592275 0.00006
NM_019892.6(INPP5E):c.1275C>T (p.Phe425=) rs780525765 0.00006
NM_019892.6(INPP5E):c.1380C>T (p.Ser460=) rs145543466 0.00006
NM_019892.6(INPP5E):c.1387+20G>A rs200094721 0.00006
NM_019892.6(INPP5E):c.906C>T (p.Phe302=) rs140222295 0.00006
NM_019892.6(INPP5E):c.976G>A (p.Glu326Lys) rs200794870 0.00006
NM_019892.6(INPP5E):c.1035-9C>T rs750624613 0.00005
NM_019892.6(INPP5E):c.1387+18G>A rs758023235 0.00005
NM_019892.6(INPP5E):c.1549+11G>T rs762345319 0.00005
NM_019892.6(INPP5E):c.1266G>A (p.Thr422=) rs749680652 0.00004
NM_019892.6(INPP5E):c.1280-10G>A rs780428016 0.00004
NM_019892.6(INPP5E):c.1287C>T (p.Asp429=) rs969546384 0.00004
NM_019892.6(INPP5E):c.1388-5C>T rs187956407 0.00004
NM_019892.6(INPP5E):c.1500C>T (p.Asp500=) rs372142221 0.00004
NM_019892.6(INPP5E):c.1626G>A (p.Thr542=) rs150464071 0.00004
NM_019892.6(INPP5E):c.1758T>C (p.Pro586=) rs1222127887 0.00004
NM_019892.6(INPP5E):c.1881G>A (p.Gln627=) rs144720715 0.00004
NM_019892.6(INPP5E):c.516G>T (p.Pro172=) rs372551521 0.00004
NM_019892.6(INPP5E):c.945G>A (p.Pro315=) rs753567429 0.00004
NM_019892.6(INPP5E):c.1095G>A (p.Ser365=) rs748104868 0.00003
NM_019892.6(INPP5E):c.1098G>A (p.Ala366=) rs374142756 0.00003
NM_019892.6(INPP5E):c.1374T>C (p.Tyr458=) rs886038652 0.00003
NM_019892.6(INPP5E):c.1614C>T (p.Ile538=) rs778220171 0.00003
NM_019892.6(INPP5E):c.1666-20C>T rs1564431321 0.00003
NM_019892.6(INPP5E):c.1716C>T (p.Ser572=) rs888610698 0.00003
NM_019892.6(INPP5E):c.1802+15G>A rs745341543 0.00003
NM_019892.6(INPP5E):c.528C>T (p.Ala176=) rs561511490 0.00003
NM_019892.6(INPP5E):c.843C>T (p.Ser281=) rs375981295 0.00003
NM_019892.6(INPP5E):c.1224C>T (p.Gly408=) rs769914491 0.00002
NM_019892.6(INPP5E):c.1407C>T (p.Phe469=) rs377483407 0.00002
NM_019892.6(INPP5E):c.168C>T (p.Ala56=) rs1334035407 0.00002
NM_019892.6(INPP5E):c.363C>T (p.Pro121=) rs762231724 0.00002
NM_019892.6(INPP5E):c.853T>C (p.Leu285=) rs763694461 0.00002
NM_019892.6(INPP5E):c.1047G>A (p.Glu349=) rs752019065 0.00001
NM_019892.6(INPP5E):c.1091C>T (p.Ser364Phe) rs536052523 0.00001
NM_019892.6(INPP5E):c.1107C>T (p.Gly369=) rs374718674 0.00001
NM_019892.6(INPP5E):c.1387+15G>A rs1464048559 0.00001
NM_019892.6(INPP5E):c.1387+17T>C rs931544953 0.00001
NM_019892.6(INPP5E):c.1392C>T (p.Asp464=) rs756021340 0.00001
NM_019892.6(INPP5E):c.1452C>T (p.Gly484=) rs371729050 0.00001
NM_019892.6(INPP5E):c.1489C>T (p.Leu497=) rs768106872 0.00001
NM_019892.6(INPP5E):c.150T>C (p.Leu50=) rs1588840560 0.00001
NM_019892.6(INPP5E):c.1530C>T (p.Leu510=) rs780119172 0.00001
NM_019892.6(INPP5E):c.1549+13G>C rs759252360 0.00001
NM_019892.6(INPP5E):c.1549+17G>A rs776348228 0.00001
NM_019892.6(INPP5E):c.1551G>T (p.Gly517=) rs201644680 0.00001
NM_019892.6(INPP5E):c.1593C>T (p.Leu531=) rs1202662483 0.00001
NM_019892.6(INPP5E):c.1641C>T (p.Ser547=) rs376485593 0.00001
NM_019892.6(INPP5E):c.1665+17G>A rs373331546 0.00001
NM_019892.6(INPP5E):c.1666-5C>T rs369685858 0.00001
NM_019892.6(INPP5E):c.1671C>T (p.Arg557=) rs776792436 0.00001
NM_019892.6(INPP5E):c.1686C>T (p.Ser562=) rs760729838 0.00001
NM_019892.6(INPP5E):c.1746C>T (p.Ser582=) rs888901624 0.00001
NM_019892.6(INPP5E):c.1802+14C>T rs374679907 0.00001
NM_019892.6(INPP5E):c.1926C>T (p.Ser642=) rs201735585 0.00001
NM_019892.6(INPP5E):c.201A>G (p.Ala67=) rs754529136 0.00001
NM_019892.6(INPP5E):c.258G>T (p.Leu86=) rs760923526 0.00001
NM_019892.6(INPP5E):c.339G>A (p.Arg113=) rs532376589 0.00001
NM_019892.6(INPP5E):c.423C>G (p.Pro141=) rs1250573322 0.00001
NM_019892.6(INPP5E):c.549C>T (p.Pro183=) rs750486950 0.00001
NM_019892.6(INPP5E):c.560_561insGCTGCCCAT (p.Ser187delinsArgLeuProIle) rs769234632 0.00001
NM_019892.6(INPP5E):c.687G>C (p.Arg229=) rs958712451 0.00001
NM_019892.6(INPP5E):c.741C>T (p.Asp247=) rs1416206447 0.00001
NM_019892.6(INPP5E):c.747C>G (p.Ser249=) rs763877519 0.00001
NM_019892.6(INPP5E):c.813-7G>C rs774539451 0.00001
NM_019892.6(INPP5E):c.819C>T (p.Tyr273=) rs1444048193 0.00001
NM_019892.6(INPP5E):c.84C>T (p.Pro28=) rs1324639364 0.00001
NM_019892.6(INPP5E):c.861G>A (p.Ala287=) rs764869959 0.00001
NM_019892.6(INPP5E):c.894C>T (p.Asn298=) rs1315162454 0.00001
NM_019892.6(INPP5E):c.937-9T>G rs376994223 0.00001
NM_019892.6(INPP5E):c.957C>T (p.Asp319=) rs1032007993 0.00001
NM_019892.6(INPP5E):c.997C>T (p.Leu333=) rs151090087 0.00001
NM_019892.6(INPP5E):c.1011G>A (p.Gly337=)
NM_019892.6(INPP5E):c.1017G>A (p.Gln339=) rs2131610330
NM_019892.6(INPP5E):c.1034+16G>A
NM_019892.6(INPP5E):c.1034+7C>T
NM_019892.6(INPP5E):c.1035-18G>A
NM_019892.6(INPP5E):c.1035-19C>T
NM_019892.6(INPP5E):c.1035-8_1035-6del rs1226334444
NM_019892.6(INPP5E):c.1053T>C (p.Arg351=)
NM_019892.6(INPP5E):c.1062G>A (p.Glu354=) rs2131609357
NM_019892.6(INPP5E):c.1065G>A (p.Thr355=) rs374089192
NM_019892.6(INPP5E):c.1065G>C (p.Thr355=) rs374089192
NM_019892.6(INPP5E):c.1071C>A (p.Gly357=) rs1264559701
NM_019892.6(INPP5E):c.1074G>A (p.Pro358=) rs746782404
NM_019892.6(INPP5E):c.1074G>T (p.Pro358=) rs746782404
NM_019892.6(INPP5E):c.1080T>C (p.Tyr360=)
NM_019892.6(INPP5E):c.1084C>T (p.Leu362=)
NM_019892.6(INPP5E):c.108G>C (p.Ala36=)
NM_019892.6(INPP5E):c.1122G>A (p.Ser374=)
NM_019892.6(INPP5E):c.1146C>A (p.Ile382=)
NM_019892.6(INPP5E):c.114C>G (p.Ser38=) rs2131620129
NM_019892.6(INPP5E):c.1155C>T (p.Cys385=)
NM_019892.6(INPP5E):c.1159+7G>A
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+7_1159+8insGGTGGGCGTGGCTGGAGGGGTGGGCGTGGCTGGAGGGGTGGGCGTGGCTGGAGG rs71269007
NM_019892.6(INPP5E):c.1159+7_1159+8insGTGGCTGGAGGGGTGGGT rs1554793113
NM_019892.6(INPP5E):c.1159+8C>A
NM_019892.6(INPP5E):c.1159+8_1159+9insGGTGGGCGCAGCTGGAGG rs747240016
NM_019892.6(INPP5E):c.1159+9_1159+11del
NM_019892.6(INPP5E):c.1160-16G>A
NM_019892.6(INPP5E):c.1179G>C (p.Val393=)
NM_019892.6(INPP5E):c.1206G>A (p.Lys402=)
NM_019892.6(INPP5E):c.1215G>A (p.Gly405=)
NM_019892.6(INPP5E):c.1221G>A (p.Leu407=)
NM_019892.6(INPP5E):c.1257C>T (p.Leu419=)
NM_019892.6(INPP5E):c.1263C>T (p.Ile421=)
NM_019892.6(INPP5E):c.1279+13G>A
NM_019892.6(INPP5E):c.1279+14T>C rs886063711
NM_019892.6(INPP5E):c.1279+18C>T
NM_019892.6(INPP5E):c.1279+19G>C
NM_019892.6(INPP5E):c.1280-4A>G
NM_019892.6(INPP5E):c.1280-8T>A
NM_019892.6(INPP5E):c.1281A>G (p.Ser427=) rs2131608043
NM_019892.6(INPP5E):c.129G>C (p.Pro43=)
NM_019892.6(INPP5E):c.12G>A (p.Lys4=)
NM_019892.6(INPP5E):c.1350A>G (p.Arg450=)
NM_019892.6(INPP5E):c.1388-4G>A rs754727297
NM_019892.6(INPP5E):c.1388-4G>T rs754727297
NM_019892.6(INPP5E):c.1401C>T (p.Thr467=) rs1835718113
NM_019892.6(INPP5E):c.1428A>G (p.Gly476=)
NM_019892.6(INPP5E):c.1473C>T (p.Ala491=)
NM_019892.6(INPP5E):c.147G>A (p.Ala49=) rs2131620018
NM_019892.6(INPP5E):c.1509G>A (p.Ala503=)
NM_019892.6(INPP5E):c.1509G>C (p.Ala503=) rs770801327
NM_019892.6(INPP5E):c.1543C>A (p.Arg515=) rs13297509
NM_019892.6(INPP5E):c.1549+12G>C rs764753548
NM_019892.6(INPP5E):c.1549+15G>A
NM_019892.6(INPP5E):c.1549+15G>T
NM_019892.6(INPP5E):c.1549+17_1549+141del rs2131606546
NM_019892.6(INPP5E):c.1549+17_1550-149del rs2131606081
NM_019892.6(INPP5E):c.1550-13C>T
NM_019892.6(INPP5E):c.1578G>A (p.Pro526=)
NM_019892.6(INPP5E):c.1581C>T (p.Asp527=)
NM_019892.6(INPP5E):c.1587C>T (p.His529=)
NM_019892.6(INPP5E):c.1590C>T (p.Phe530=)
NM_019892.6(INPP5E):c.1602C>T (p.Tyr534=)
NM_019892.6(INPP5E):c.1605G>A (p.Lys535=)
NM_019892.6(INPP5E):c.1629C>T (p.Tyr543=) rs753398503
NM_019892.6(INPP5E):c.1635C>T (p.Ser545=)
NM_019892.6(INPP5E):c.1653G>A (p.Thr551=)
NM_019892.6(INPP5E):c.1665+15C>G
NM_019892.6(INPP5E):c.1665+16C>G
NM_019892.6(INPP5E):c.1665+16C>T
NM_019892.6(INPP5E):c.1665+7C>G rs2131605609
NM_019892.6(INPP5E):c.1666-19C>A rs374671289
NM_019892.6(INPP5E):c.1671C>A (p.Arg557=) rs776792436
NM_019892.6(INPP5E):c.1689C>A (p.Arg563=) rs2131604929
NM_019892.6(INPP5E):c.1731C>T (p.Pro577=)
NM_019892.6(INPP5E):c.1743G>C (p.Thr581=) rs368026621
NM_019892.6(INPP5E):c.1755C>A (p.Arg585=) rs2131604784
NM_019892.6(INPP5E):c.1767C>T (p.Gly589=) rs1835669405
NM_019892.6(INPP5E):c.1770C>G (p.Leu590=)
NM_019892.6(INPP5E):c.1802+10C>T
NM_019892.6(INPP5E):c.1803-17C>T
NM_019892.6(INPP5E):c.1803-19G>A
NM_019892.6(INPP5E):c.1803-19G>T
NM_019892.6(INPP5E):c.1803-40_1803-7dup rs1329220171
NM_019892.6(INPP5E):c.1857A>G (p.Lys619=) rs1200807419
NM_019892.6(INPP5E):c.1866T>A (p.Ile622=)
NM_019892.6(INPP5E):c.1869G>A (p.Ser623=)
NM_019892.6(INPP5E):c.1887G>A (p.Gln629=)
NM_019892.6(INPP5E):c.1893A>C (p.Ala631=) rs1835654114
NM_019892.6(INPP5E):c.1894C>T (p.Leu632=)
NM_019892.6(INPP5E):c.189G>A (p.Pro63=)
NM_019892.6(INPP5E):c.192A>C (p.Pro64=)
NM_019892.6(INPP5E):c.210C>T (p.Ile70=) rs1444322599
NM_019892.6(INPP5E):c.213C>T (p.Ala71=)
NM_019892.6(INPP5E):c.225C>G (p.Pro75=) rs767451997
NM_019892.6(INPP5E):c.255C>T (p.Ser85=) rs776746807
NM_019892.6(INPP5E):c.280A>C (p.Arg94=) rs1835923579
NM_019892.6(INPP5E):c.321T>C (p.Asn107=)
NM_019892.6(INPP5E):c.324G>A (p.Gly108=)
NM_019892.6(INPP5E):c.354C>T (p.Ser118=)
NM_019892.6(INPP5E):c.372C>G (p.Pro124=)
NM_019892.6(INPP5E):c.408C>T (p.Ser136=)
NM_019892.6(INPP5E):c.462G>A (p.Pro154=)
NM_019892.6(INPP5E):c.465C>T (p.Ser155=)
NM_019892.6(INPP5E):c.546G>A (p.Ser182=)
NM_019892.6(INPP5E):c.591G>A (p.Leu197=) rs2131618177
NM_019892.6(INPP5E):c.597G>A (p.Leu199=)
NM_019892.6(INPP5E):c.616C>T (p.Leu206=)
NM_019892.6(INPP5E):c.624A>C (p.Thr208=)
NM_019892.6(INPP5E):c.624A>G (p.Thr208=)
NM_019892.6(INPP5E):c.627A>G (p.Ala209=)
NM_019892.6(INPP5E):c.669G>A (p.Ala223=)
NM_019892.6(INPP5E):c.696C>T (p.Ser232=)
NM_019892.6(INPP5E):c.6G>C (p.Pro2=) rs761850172
NM_019892.6(INPP5E):c.726C>G (p.Pro242=) rs766781844
NM_019892.6(INPP5E):c.729G>A (p.Leu243=)
NM_019892.6(INPP5E):c.777C>T (p.Leu259=)
NM_019892.6(INPP5E):c.783G>A (p.Ala261=)
NM_019892.6(INPP5E):c.807C>T (p.Arg269=)
NM_019892.6(INPP5E):c.812+19G>A
NM_019892.6(INPP5E):c.813-16G>A rs2131611492
NM_019892.6(INPP5E):c.813-7G>A
NM_019892.6(INPP5E):c.813-9C>T rs771055995
NM_019892.6(INPP5E):c.825G>A (p.Glu275=) rs2131611437
NM_019892.6(INPP5E):c.885A>G (p.Pro295=) rs2131611346
NM_019892.6(INPP5E):c.888C>T (p.Asp296=)
NM_019892.6(INPP5E):c.912C>T (p.Ala304=) rs2131611280
NM_019892.6(INPP5E):c.915C>T (p.Thr305=)
NM_019892.6(INPP5E):c.927G>A (p.Gln309=)
NM_019892.6(INPP5E):c.936+11G>A
NM_019892.6(INPP5E):c.936+13G>T
NM_019892.6(INPP5E):c.936+16_936+25del
NM_019892.6(INPP5E):c.937-11C>T
NM_019892.6(INPP5E):c.937-15G>A rs1297434272
NM_019892.6(INPP5E):c.939G>A (p.Glu313=)
NM_019892.6(INPP5E):c.966G>A (p.Leu322=) rs2131610464
NM_019892.6(INPP5E):c.975C>G (p.Ala325=) rs143258290
NM_019892.6(INPP5E):c.975C>T (p.Ala325=) rs143258290
NM_019892.6(INPP5E):c.999G>C (p.Leu333=)

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