ClinVar Miner

List of variants studied for Joubert syndrome with ocular defect by Invitae

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 288
Download table as spreadsheet
HGVS dbSNP
NC_000002.11:g.(?_202334676)_(202523241_?)dup
NC_000002.11:g.(?_202466462)_(202508123_?)del
NC_000002.11:g.(?_202496774)_(202498154_?)del
NC_000002.12:g.(?_201618900)_(201647825_?)del
NC_000007.13:g.(?_130038777_130039476del
NC_000016.10:g.(?_75539974)_(75545515_?)del
NC_000016.9:g.(?_75573872)_(75579413_?)dup
NC_000016.9:g.(?_75573891)_(75579393_?)dup
NC_000016.9:g.(?_75573892)_(75575373_?)dup
NC_000016.9:g.(?_75573892)_(75579403_?)dup
NC_000016.9:g.(?_75573892)_(75579413_?)dup
NM_001044385.3(TMEM237):c.101C>T (p.Pro34Leu)
NM_001044385.3(TMEM237):c.1024A>G (p.Asn342Asp) rs372686071
NM_001044385.3(TMEM237):c.1031G>C (p.Ser344Thr)
NM_001044385.3(TMEM237):c.1038-18G>C
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=) rs149240122
NM_001044385.3(TMEM237):c.1090G>A (p.Val364Met) rs138509553
NM_001044385.3(TMEM237):c.1090G>T (p.Val364Leu)
NM_001044385.3(TMEM237):c.1091T>C (p.Val364Ala)
NM_001044385.3(TMEM237):c.1096G>T (p.Ala366Ser) rs73989521
NM_001044385.3(TMEM237):c.1134T>C (p.Tyr378=) rs77570029
NM_001044385.3(TMEM237):c.114G>A (p.Lys38=) rs770907860
NM_001044385.3(TMEM237):c.1173del (p.Ser392fs) rs763176756
NM_001044385.3(TMEM237):c.1176A>G (p.Ser392=) rs773344011
NM_001044385.3(TMEM237):c.1183G>A (p.Glu395Lys)
NM_001044385.3(TMEM237):c.1192C>T (p.Pro398Ser)
NM_001044385.3(TMEM237):c.1212C>T (p.Ile404=) rs1317494328
NM_001044385.3(TMEM237):c.1215del (p.Ala406fs)
NM_001044385.3(TMEM237):c.136+1G>T
NM_001044385.3(TMEM237):c.136+7C>T
NM_001044385.3(TMEM237):c.136+8G>A rs200618675
NM_001044385.3(TMEM237):c.137-3T>C
NM_001044385.3(TMEM237):c.149T>C (p.Leu50Ser)
NM_001044385.3(TMEM237):c.14C>T (p.Ser5Leu)
NM_001044385.3(TMEM237):c.15G>C (p.Ser5=)
NM_001044385.3(TMEM237):c.169G>A (p.Ala57Thr) rs999613520
NM_001044385.3(TMEM237):c.176G>A (p.Arg59Gln) rs199624987
NM_001044385.3(TMEM237):c.183C>T (p.Pro61=) rs372100073
NM_001044385.3(TMEM237):c.194A>G (p.Asn65Ser) rs141817764
NM_001044385.3(TMEM237):c.1A>G (p.Met1Val)
NM_001044385.3(TMEM237):c.226C>A (p.Pro76Thr)
NM_001044385.3(TMEM237):c.22C>T (p.Arg8Trp)
NM_001044385.3(TMEM237):c.24G>A (p.Arg8=) rs377090903
NM_001044385.3(TMEM237):c.251A>G (p.Gln84Arg)
NM_001044385.3(TMEM237):c.275-9T>C
NM_001044385.3(TMEM237):c.287C>T (p.Ser96Phe)
NM_001044385.3(TMEM237):c.293C>T (p.Thr98Ile)
NM_001044385.3(TMEM237):c.297A>G (p.Gln99=) rs767711440
NM_001044385.3(TMEM237):c.311G>A (p.Ser104Asn)
NM_001044385.3(TMEM237):c.317C>G (p.Ser106Cys)
NM_001044385.3(TMEM237):c.31G>A (p.Glu11Lys)
NM_001044385.3(TMEM237):c.330T>G (p.Asn110Lys) rs1553660992
NM_001044385.3(TMEM237):c.33G>A (p.Glu11=)
NM_001044385.3(TMEM237):c.347C>T (p.Ala116Val)
NM_001044385.3(TMEM237):c.348G>A (p.Ala116=) rs191125006
NM_001044385.3(TMEM237):c.365C>T (p.Ala122Val)
NM_001044385.3(TMEM237):c.382C>T (p.Arg128Trp)
NM_001044385.3(TMEM237):c.395+7A>G rs78297522
NM_001044385.3(TMEM237):c.396-14C>T rs74411816
NM_001044385.3(TMEM237):c.405G>A (p.Gln135=) rs370418884
NM_001044385.3(TMEM237):c.42+15G>A
NM_001044385.3(TMEM237):c.437G>C (p.Gly146Ala)
NM_001044385.3(TMEM237):c.439G>A (p.Val147Ile) rs200531617
NM_001044385.3(TMEM237):c.454A>C (p.Ile152Leu)
NM_001044385.3(TMEM237):c.471A>G (p.Gln157=)
NM_001044385.3(TMEM237):c.475A>G (p.Thr159Ala) rs199500256
NM_001044385.3(TMEM237):c.482A>G (p.Glu161Gly)
NM_001044385.3(TMEM237):c.499A>G (p.Thr167Ala)
NM_001044385.3(TMEM237):c.505C>A (p.Pro169Thr)
NM_001044385.3(TMEM237):c.51A>G (p.Pro17=)
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter) rs199469707
NM_001044385.3(TMEM237):c.553+1G>A
NM_001044385.3(TMEM237):c.553+2dup
NM_001044385.3(TMEM237):c.553+3dup
NM_001044385.3(TMEM237):c.553+9A>T
NM_001044385.3(TMEM237):c.553C>T (p.Arg185Trp)
NM_001044385.3(TMEM237):c.554-10G>A
NM_001044385.3(TMEM237):c.554-15G>A rs144051344
NM_001044385.3(TMEM237):c.588A>G (p.Ile196Met)
NM_001044385.3(TMEM237):c.605_606del (p.Ile202fs)
NM_001044385.3(TMEM237):c.617T>C (p.Met206Thr)
NM_001044385.3(TMEM237):c.618G>A (p.Met206Ile)
NM_001044385.3(TMEM237):c.634T>C (p.Trp212Arg) rs200467447
NM_001044385.3(TMEM237):c.656T>C (p.Leu219Pro)
NM_001044385.3(TMEM237):c.66T>A (p.Pro22=) rs370010097
NM_001044385.3(TMEM237):c.672T>G (p.Ala224=)
NM_001044385.3(TMEM237):c.677+1G>A rs793888505
NM_001044385.3(TMEM237):c.678-13C>T
NM_001044385.3(TMEM237):c.721G>A (p.Val241Met)
NM_001044385.3(TMEM237):c.738G>A (p.Val246=) rs199947989
NM_001044385.3(TMEM237):c.74+15C>T rs375401635
NM_001044385.3(TMEM237):c.747T>A (p.Val249=)
NM_001044385.3(TMEM237):c.75-13T>C rs116829037
NM_001044385.3(TMEM237):c.75-8C>T rs1274569461
NM_001044385.3(TMEM237):c.778A>G (p.Asn260Asp) rs151163650
NM_001044385.3(TMEM237):c.79+8del
NM_001044385.3(TMEM237):c.80-11T>C rs76296365
NM_001044385.3(TMEM237):c.80-18dup
NM_001044385.3(TMEM237):c.806C>T (p.Ala269Val)
NM_001044385.3(TMEM237):c.858A>G (p.Ser286=)
NM_001044385.3(TMEM237):c.869+10A>G rs376868416
NM_001044385.3(TMEM237):c.869+4A>G
NM_001044385.3(TMEM237):c.869+5T>C
NM_001044385.3(TMEM237):c.870-13_870-12del rs555284377
NM_001044385.3(TMEM237):c.871A>G (p.Ile291Val) rs202130417
NM_001044385.3(TMEM237):c.878T>G (p.Phe293Cys)
NM_001044385.3(TMEM237):c.890C>G (p.Ser297Ter)
NM_001044385.3(TMEM237):c.901C>T (p.Arg301Ter) rs775449384
NM_001044385.3(TMEM237):c.902G>A (p.Arg301Gln)
NM_001044385.3(TMEM237):c.936A>G (p.Ala312=)
NM_001044385.3(TMEM237):c.943+1G>T rs748510210
NM_001044385.3(TMEM237):c.965T>G (p.Leu322Arg)
NM_001044385.3(TMEM237):c.97C>T (p.Arg33Cys) rs200714434
NM_001044385.3(TMEM237):c.98G>A (p.Arg33His)
NM_001044385.3(TMEM237):c.9T>G (p.Thr3=) rs6736435
NM_001077416.2(TMEM231):c.10A>G (p.Arg4Gly) rs1176007249
NM_001077416.2(TMEM231):c.12G>A (p.Arg4=) rs115739052
NM_001077416.2(TMEM231):c.19C>A (p.Gln7Lys)
NM_001077418.3(TMEM231):c.-15C>T rs138060715
NM_001077418.3(TMEM231):c.-40C>G rs114889548
NM_001077418.3(TMEM231):c.-6G>C rs3743602
NM_001077418.3(TMEM231):c.11A>G (p.Tyr4Cys) rs1597051521
NM_001077418.3(TMEM231):c.129C>T (p.Phe43=) rs377440297
NM_001077418.3(TMEM231):c.130C>T (p.Arg44Trp) rs750674092
NM_001077418.3(TMEM231):c.139+39G>C
NM_001077418.3(TMEM231):c.139+42G>A
NM_001077418.3(TMEM231):c.139+47C>A rs200063331
NM_001077418.3(TMEM231):c.140-15C>T rs201518524
NM_001077418.3(TMEM231):c.140-28C>G rs375353411
NM_001077418.3(TMEM231):c.140-30A>C
NM_001077418.3(TMEM231):c.140-47C>G rs369232571
NM_001077418.3(TMEM231):c.16C>G (p.Leu6Val) rs3743601
NM_001077418.3(TMEM231):c.176C>A (p.Pro59Gln) rs774528098
NM_001077418.3(TMEM231):c.177G>C (p.Pro59=) rs78196225
NM_001077418.3(TMEM231):c.247T>G (p.Trp83Gly)
NM_001077418.3(TMEM231):c.309G>C (p.Ser103=)
NM_001077418.3(TMEM231):c.322G>A (p.Asp108Asn)
NM_001077418.3(TMEM231):c.373C>G (p.Pro125Ala)
NM_001077418.3(TMEM231):c.376C>T (p.Leu126=) rs557695110
NM_001077418.3(TMEM231):c.380A>C (p.Gln127Pro)
NM_001077418.3(TMEM231):c.380A>G (p.Gln127Arg)
NM_001077418.3(TMEM231):c.438+5G>C
NM_001077418.3(TMEM231):c.454G>A (p.Val152Met)
NM_001077418.3(TMEM231):c.45C>T (p.Tyr15=)
NM_001077418.3(TMEM231):c.470C>T (p.Ala157Val) rs201036290
NM_001077418.3(TMEM231):c.471G>A (p.Ala157=) rs375273015
NM_001077418.3(TMEM231):c.494T>A (p.Val165Asp) rs1597041448
NM_001077418.3(TMEM231):c.498G>A (p.Pro166=) rs201636741
NM_001077418.3(TMEM231):c.582+17T>A rs2738801
NM_001077418.3(TMEM231):c.582+3A>G rs114290622
NM_001077418.3(TMEM231):c.582+6A>G rs376300743
NM_001077418.3(TMEM231):c.582+8C>G rs144252983
NM_001077418.3(TMEM231):c.582C>T (p.Asn194=) rs199776253
NM_001077418.3(TMEM231):c.583-10C>T rs774265542
NM_001077418.3(TMEM231):c.583-20A>T rs375984875
NM_001077418.3(TMEM231):c.621C>G (p.Asp207Glu)
NM_001077418.3(TMEM231):c.625G>A (p.Asp209Asn) rs200799769
NM_001077418.3(TMEM231):c.653A>G (p.Gln218Arg)
NM_001077418.3(TMEM231):c.663C>T (p.Asn221=)
NM_001077418.3(TMEM231):c.664+4A>G rs760426025
NM_001077418.3(TMEM231):c.665-10T>C
NM_001077418.3(TMEM231):c.710G>C (p.Arg237Thr) rs199813223
NM_001077418.3(TMEM231):c.714C>T (p.Ala238=)
NM_001077418.3(TMEM231):c.719A>G (p.Asp240Gly) rs146210288
NM_001077418.3(TMEM231):c.727T>C (p.Phe243Leu) rs746025189
NM_001077418.3(TMEM231):c.754C>G (p.Pro252Ala) rs1295551040
NM_001077418.3(TMEM231):c.770+3A>G
NM_001077418.3(TMEM231):c.771-4A>C rs199768195
NM_001077418.3(TMEM231):c.777G>T (p.Gln259His)
NM_001077418.3(TMEM231):c.786C>G (p.Phe262Leu)
NM_001077418.3(TMEM231):c.791A>C (p.Glu264Ala) rs199605221
NM_001077418.3(TMEM231):c.798A>G (p.Val266=) rs772364535
NM_001077418.3(TMEM231):c.79C>T (p.Leu27=) rs370607340
NM_001077418.3(TMEM231):c.7C>G (p.Leu3Val) rs371709760
NM_001077418.3(TMEM231):c.804C>T (p.Phe268=) rs149118721
NM_001077418.3(TMEM231):c.813G>A (p.Val271=) rs2242406
NM_001077418.3(TMEM231):c.843C>G (p.Leu281=)
NM_001077418.3(TMEM231):c.870C>T (p.Phe290=) rs541349898
NM_001077418.3(TMEM231):c.891G>A (p.Val297=) rs149888762
NM_001077418.3(TMEM231):c.915G>A (p.Thr305=)
NM_001077418.3(TMEM231):c.91G>A (p.Ala31Thr) rs202215735
NM_001077418.3(TMEM231):c.927C>A (p.Asp309Glu) rs186119649
NM_001077418.3(TMEM231):c.927_928inv (p.Asp309_Leu310delinsGluVal)
NM_001077418.3(TMEM231):c.928T>G (p.Leu310Val) rs182008317
NM_001077418.3(TMEM231):c.930G>A (p.Leu310=)
NM_001077418.3(TMEM231):c.95C>T (p.Ala32Val) rs201181950
NM_018718.3(CEP41):c.1000G>A (p.Gly334Arg)
NM_018718.3(CEP41):c.1004G>A (p.Arg335Lys) rs782672149
NM_018718.3(CEP41):c.1009T>C (p.Ser337Pro) rs147444165
NM_018718.3(CEP41):c.1022G>A (p.Gly341Asp)
NM_018718.3(CEP41):c.102C>T (p.Asn34=)
NM_018718.3(CEP41):c.1033G>A (p.Ala345Thr)
NM_018718.3(CEP41):c.1033G>T (p.Ala345Ser)
NM_018718.3(CEP41):c.1037A>G (p.Gln346Arg)
NM_018718.3(CEP41):c.1040A>G (p.Asn347Ser)
NM_018718.3(CEP41):c.1050T>G (p.Gly350=)
NM_018718.3(CEP41):c.1054G>A (p.Gly352Ser)
NM_018718.3(CEP41):c.1060G>A (p.Ala354Thr)
NM_018718.3(CEP41):c.1065C>G (p.Ser355Arg) rs116313397
NM_018718.3(CEP41):c.1078C>T (p.Arg360Cys) rs371812716
NM_018718.3(CEP41):c.107T>C (p.Met36Thr) rs368178632
NM_018718.3(CEP41):c.1080C>T (p.Arg360=)
NM_018718.3(CEP41):c.1086CAG[3] (p.Ser364dup)
NM_018718.3(CEP41):c.1087A>G (p.Ser363Gly)
NM_018718.3(CEP41):c.1115G>A (p.Trp372Ter)
NM_018718.3(CEP41):c.112A>G (p.Lys38Glu)
NM_018718.3(CEP41):c.114A>G (p.Lys38=) rs1554421037
NM_018718.3(CEP41):c.130G>A (p.Glu44Lys)
NM_018718.3(CEP41):c.145+3A>G
NM_018718.3(CEP41):c.145+5G>A
NM_018718.3(CEP41):c.145+6del
NM_018718.3(CEP41):c.146-13C>T
NM_018718.3(CEP41):c.146-9A>G
NM_018718.3(CEP41):c.186A>G (p.Lys62=)
NM_018718.3(CEP41):c.200C>T (p.Ala67Val)
NM_018718.3(CEP41):c.208-5A>G rs11765434
NM_018718.3(CEP41):c.208-7C>G
NM_018718.3(CEP41):c.208-7C>T
NM_018718.3(CEP41):c.20T>C (p.Ile7Thr) rs147494464
NM_018718.3(CEP41):c.226C>G (p.Leu76Val)
NM_018718.3(CEP41):c.230C>G (p.Ser77Cys)
NM_018718.3(CEP41):c.277+10del
NM_018718.3(CEP41):c.277G>C (p.Asp93His)
NM_018718.3(CEP41):c.278-15A>C rs142452124
NM_018718.3(CEP41):c.278-15A>T rs142452124
NM_018718.3(CEP41):c.278A>G (p.Asp93Gly)
NM_018718.3(CEP41):c.28C>A (p.Pro10Thr)
NM_018718.3(CEP41):c.28C>G (p.Pro10Ala)
NM_018718.3(CEP41):c.305A>G (p.Asp102Gly)
NM_018718.3(CEP41):c.320C>G (p.Ala107Gly) rs141025803
NM_018718.3(CEP41):c.357G>A (p.Ser119=)
NM_018718.3(CEP41):c.383A>G (p.Asn128Ser) rs782436531
NM_018718.3(CEP41):c.422+6C>T rs199678365
NM_018718.3(CEP41):c.422+7G>A rs190680511
NM_018718.3(CEP41):c.423-18C>A rs371925259
NM_018718.3(CEP41):c.423-2A>C rs781815473
NM_018718.3(CEP41):c.423-2A>G
NM_018718.3(CEP41):c.423-8A>G
NM_018718.3(CEP41):c.42G>T (p.Met14Ile)
NM_018718.3(CEP41):c.431G>A (p.Ser144Asn) rs145850728
NM_018718.3(CEP41):c.437T>C (p.Val146Ala)
NM_018718.3(CEP41):c.473A>G (p.Lys158Arg) rs1554417299
NM_018718.3(CEP41):c.4T>G (p.Ser2Ala)
NM_018718.3(CEP41):c.510C>T (p.Asp170=)
NM_018718.3(CEP41):c.514C>T (p.Pro172Ser)
NM_018718.3(CEP41):c.536G>A (p.Arg179His) rs140259402
NM_018718.3(CEP41):c.553C>G (p.Gln185Glu)
NM_018718.3(CEP41):c.575-12T>C rs186638258
NM_018718.3(CEP41):c.575-14del rs144531086
NM_018718.3(CEP41):c.578A>C (p.Tyr193Ser)
NM_018718.3(CEP41):c.5C>T (p.Ser2Phe)
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala) rs143303575
NM_018718.3(CEP41):c.641A>T (p.Tyr214Phe)
NM_018718.3(CEP41):c.642T>C (p.Tyr214=)
NM_018718.3(CEP41):c.643-6T>A
NM_018718.3(CEP41):c.653A>C (p.His218Pro)
NM_018718.3(CEP41):c.678C>T (p.Asp226=) rs545406161
NM_018718.3(CEP41):c.679G>A (p.Asp227Asn) rs782704307
NM_018718.3(CEP41):c.696C>T (p.Ala232=)
NM_018718.3(CEP41):c.697A>G (p.Ser233Gly)
NM_018718.3(CEP41):c.705G>A (p.Ala235=)
NM_018718.3(CEP41):c.705G>T (p.Ala235=)
NM_018718.3(CEP41):c.716T>C (p.Met239Thr)
NM_018718.3(CEP41):c.718T>G (p.Cys240Gly) rs113941736
NM_018718.3(CEP41):c.723G>A (p.Glu241=)
NM_018718.3(CEP41):c.724C>T (p.Arg242Cys)
NM_018718.3(CEP41):c.741C>T (p.Leu247=)
NM_018718.3(CEP41):c.758-14dup
NM_018718.3(CEP41):c.773C>T (p.Ala258Val)
NM_018718.3(CEP41):c.785C>T (p.Pro262Leu)
NM_018718.3(CEP41):c.786G>A (p.Pro262=) rs782460743
NM_018718.3(CEP41):c.831C>T (p.Ala277=)
NM_018718.3(CEP41):c.851G>A (p.Arg284Gln) rs782105300
NM_018718.3(CEP41):c.867C>T (p.Pro289=) rs782385841
NM_018718.3(CEP41):c.911C>G (p.Pro304Arg)
NM_018718.3(CEP41):c.928A>G (p.Ile310Val)
NM_018718.3(CEP41):c.947_948dup (p.Glu317fs) rs782610112
NM_018718.3(CEP41):c.957G>A (p.Gly319=)
NM_018718.3(CEP41):c.973+15C>T
NM_018718.3(CEP41):c.973+404_1077del
NM_018718.3(CEP41):c.973+8del
NM_018718.3(CEP41):c.974-8C>T rs367692258
NM_018718.3(CEP41):c.976C>T (p.Arg326Ter) rs782286004
NM_018718.3(CEP41):c.977G>A (p.Arg326Gln)
NM_018718.3(CEP41):c.977G>T (p.Arg326Leu)
NM_018718.3(CEP41):c.988G>C (p.Ala330Pro) rs368525533
NM_018718.3(CEP41):c.997T>C (p.Ser333Pro)
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.