ClinVar Miner

List of variants reported as likely benign for Joubert syndrome with ocular defect

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 143
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HGVS dbSNP
NC_000016.9:g.(?_75573891)_(75579393_?)dup
NC_000016.9:g.(?_75573892)_(75579403_?)dup
NC_000016.9:g.(?_75573892)_(75579413_?)dup
NM_001044385.3(TMEM237):c.*1107C>T rs143516209
NM_001044385.3(TMEM237):c.*1588G>A
NM_001044385.3(TMEM237):c.*1975C>G
NM_001044385.3(TMEM237):c.*2137A>G
NM_001044385.3(TMEM237):c.*2142G>C rs76042698
NM_001044385.3(TMEM237):c.*2180G>A
NM_001044385.3(TMEM237):c.*2349C>T
NM_001044385.3(TMEM237):c.*2431T>G rs142355657
NM_001044385.3(TMEM237):c.*2480T>G rs75655554
NM_001044385.3(TMEM237):c.*2719G>A rs142852956
NM_001044385.3(TMEM237):c.*3124A>T
NM_001044385.3(TMEM237):c.*3372C>T rs192214909
NM_001044385.3(TMEM237):c.*3453T>G rs77771615
NM_001044385.3(TMEM237):c.*439G>A
NM_001044385.3(TMEM237):c.*634C>T
NM_001044385.3(TMEM237):c.-25G>A rs568671275
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.114G>A (p.Lys38=) rs770907860
NM_001044385.3(TMEM237):c.1176A>G (p.Ser392=) rs773344011
NM_001044385.3(TMEM237):c.1212C>T (p.Ile404=) rs1317494328
NM_001044385.3(TMEM237):c.136+7C>T
NM_001044385.3(TMEM237):c.136+8G>A rs200618675
NM_001044385.3(TMEM237):c.15G>C (p.Ser5=)
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.24G>A (p.Arg8=) rs377090903
NM_001044385.3(TMEM237):c.275-9T>C
NM_001044385.3(TMEM237):c.348G>A (p.Ala116=) rs191125006
NM_001044385.3(TMEM237):c.405G>A (p.Gln135=) rs370418884
NM_001044385.3(TMEM237):c.42+15G>A
NM_001044385.3(TMEM237):c.471A>G (p.Gln157=)
NM_001044385.3(TMEM237):c.51A>G (p.Pro17=)
NM_001044385.3(TMEM237):c.553+9A>T
NM_001044385.3(TMEM237):c.554-10G>A
NM_001044385.3(TMEM237):c.66T>A (p.Pro22=) rs370010097
NM_001044385.3(TMEM237):c.672T>G (p.Ala224=)
NM_001044385.3(TMEM237):c.678-13C>T
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.75-8C>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.858A>G (p.Ser286=)
NM_001044385.3(TMEM237):c.936A>G (p.Ala312=)
NM_001044385.3(TMEM237):c.97C>T (p.Arg33Cys) rs200714434
NM_001077416.2(TMEM231):c.12G>A (p.Arg4=) rs115739052
NM_001077418.3(TMEM231):c.-15C>T rs138060715
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.140-15C>T rs201518524
NM_001077418.3(TMEM231):c.140-47C>G rs369232571
NM_001077418.3(TMEM231):c.470C>T (p.Ala157Val) rs201036290
NM_001077418.3(TMEM231):c.583-10C>T rs774265542
NM_001077418.3(TMEM231):c.583-20A>T rs375984875
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.771-4A>C rs199768195
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.870C>T (p.Phe290=) rs541349898
NM_001077418.3(TMEM231):c.915G>A (p.Thr305=)
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_001134831.2(AHI1):c.1791C>T (p.Ile597=) rs150425546
NM_001134831.2(AHI1):c.2505G>A (p.Arg835=) rs41288017
NM_001134831.2(AHI1):c.2567C>G (p.Thr856Ser)
NM_001134831.2(AHI1):c.2589G>A (p.Glu863=) rs147279669
NM_001134831.2(AHI1):c.2798A>G (p.Tyr933Cys) rs41288013
NM_001134831.2(AHI1):c.2945G>T (p.Arg982Met) rs370400336
NM_001134831.2(AHI1):c.2972G>A (p.Arg991His) rs35851478
NM_001134831.2(AHI1):c.3039G>A (p.Gln1013=) rs142381345
NM_001134831.2(AHI1):c.3164C>T (p.Thr1055Met) rs73559947
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791
NM_001134831.2(AHI1):c.3342A>G (p.Glu1114=) rs199708272
NM_001134831.2(AHI1):c.3418C>T (p.Pro1140Ser) rs201148693
NM_001134831.2(AHI1):c.653A>G (p.Tyr218Cys) rs183936286
NM_001134831.2(AHI1):c.724C>T (p.Pro242Ser) rs143522987
NM_001134831.2(AHI1):c.82C>T (p.Arg28Cys)
NM_001165927.1(MKS1):c.1558+12C>G rs762501967
NM_001165927.1(MKS1):c.1570C>A (p.Arg524=) rs772719574
NM_001165927.1(MKS1):c.50+325C>G rs761061379
NM_001165927.1(MKS1):c.741G>A (p.Lys247=) rs886038632
NM_018718.3(CEP41):c.*1336A>G
NM_018718.3(CEP41):c.*136T>G
NM_018718.3(CEP41):c.*1512C>T
NM_018718.3(CEP41):c.*1534T>C
NM_018718.3(CEP41):c.*1567A>C
NM_018718.3(CEP41):c.*2481T>A
NM_018718.3(CEP41):c.*2896G>A rs147207980
NM_018718.3(CEP41):c.*392G>A
NM_018718.3(CEP41):c.*4314T>C rs114939029
NM_018718.3(CEP41):c.*4594C>T
NM_018718.3(CEP41):c.1009T>C (p.Ser337Pro) rs147444165
NM_018718.3(CEP41):c.102C>T (p.Asn34=)
NM_018718.3(CEP41):c.1050T>G (p.Gly350=)
NM_018718.3(CEP41):c.1065C>G (p.Ser355Arg) rs116313397
NM_018718.3(CEP41):c.1080C>T (p.Arg360=)
NM_018718.3(CEP41):c.114A>G (p.Lys38=) rs1554421037
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.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.277+10del
NM_018718.3(CEP41):c.278-15A>C rs142452124
NM_018718.3(CEP41):c.357G>A (p.Ser119=)
NM_018718.3(CEP41):c.422+7G>A rs190680511
NM_018718.3(CEP41):c.423-18C>A rs371925259
NM_018718.3(CEP41):c.423-8A>G
NM_018718.3(CEP41):c.510C>T (p.Asp170=)
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.705G>A (p.Ala235=)
NM_018718.3(CEP41):c.705G>T (p.Ala235=)
NM_018718.3(CEP41):c.718T>G (p.Cys240Gly) rs113941736
NM_018718.3(CEP41):c.723G>A (p.Glu241=)
NM_018718.3(CEP41):c.741C>T (p.Leu247=)
NM_018718.3(CEP41):c.786G>A (p.Pro262=) rs782460743
NM_018718.3(CEP41):c.831C>T (p.Ala277=)
NM_018718.3(CEP41):c.867C>T (p.Pro289=) rs782385841
NM_018718.3(CEP41):c.957G>A (p.Gly319=)
NM_018718.3(CEP41):c.973+15C>T
NM_018718.3(CEP41):c.973+8del
NM_018718.3(CEP41):c.974-8C>T rs367692258

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