ClinVar Miner

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

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 81
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HGVS dbSNP
NC_000016.9:g.(?_75573892)_(75575373_?)dup
NM_001044385.3(TMEM237):c.*1489G>C
NM_001044385.3(TMEM237):c.*564T>C
NM_001044385.3(TMEM237):c.-12G>A rs113186360
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=) rs149240122
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.136+8G>A rs200618675
NM_001044385.3(TMEM237):c.33G>A (p.Glu11=)
NM_001044385.3(TMEM237):c.348G>A (p.Ala116=) rs191125006
NM_001044385.3(TMEM237):c.395+7A>G rs78297522
NM_001044385.3(TMEM237):c.396-14C>T rs74411816
NM_001044385.3(TMEM237):c.475A>G (p.Thr159Ala) rs199500256
NM_001044385.3(TMEM237):c.554-15G>A rs144051344
NM_001044385.3(TMEM237):c.75-13T>C rs116829037
NM_001044385.3(TMEM237):c.80-11T>C rs76296365
NM_001044385.3(TMEM237):c.80-18dup
NM_001044385.3(TMEM237):c.869+10A>G rs376868416
NM_001044385.3(TMEM237):c.870-13_870-12del rs555284377
NM_001044385.3(TMEM237):c.9T>G (p.Thr3=) rs6736435
NM_001077418.3(TMEM231):c.-6G>C rs3743602
NM_001077418.3(TMEM231):c.140-28C>G rs375353411
NM_001077418.3(TMEM231):c.16C>G (p.Leu6Val) rs3743601
NM_001077418.3(TMEM231):c.177G>C (p.Pro59=) rs78196225
NM_001077418.3(TMEM231):c.376C>T (p.Leu126=) rs557695110
NM_001077418.3(TMEM231):c.471G>A (p.Ala157=) rs375273015
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+8C>G rs144252983
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.891G>A (p.Val297=) rs149888762
NM_001077418.3(TMEM231):c.91G>A (p.Ala31Thr) rs202215735
NM_001134831.2(AHI1):c.*218C>T rs1052502
NM_001134831.2(AHI1):c.*28G>C rs9494209
NM_001134831.2(AHI1):c.-299G>A rs113052089
NM_001134831.2(AHI1):c.1152-11T>G rs113317693
NM_001134831.2(AHI1):c.1643G>A (p.Arg548His) rs35433555
NM_001134831.2(AHI1):c.1780-14C>T rs2757645
NM_001134831.2(AHI1):c.2223T>C (p.Asp741=) rs2273761
NM_001134831.2(AHI1):c.2488C>T (p.Arg830Trp) rs13312995
NM_001134831.2(AHI1):c.2624-6A>G rs41288015
NM_001134831.2(AHI1):c.3015A>G (p.Ser1005=) rs41287054
NM_001134831.2(AHI1):c.3053A>C (p.Gln1018Pro) rs6940875
NM_001134831.2(AHI1):c.3426+13G>A rs6914831
NM_001134831.2(AHI1):c.3579T>C (p.Thr1193=) rs115338154
NM_001134831.2(AHI1):c.517G>A (p.Ala173Thr) rs146416468
NM_001134831.2(AHI1):c.804A>C (p.Ser268=) rs35528530
NM_001165927.1(MKS1):c.161-44G>A rs73329636
NM_001165927.1(MKS1):c.231+67A>G rs7225148
NM_001165927.1(MKS1):c.720-105T>C rs3744105
NM_001165927.1(MKS1):c.828+9A>G rs3826300
NM_001165927.1(MKS1):c.994+128C>T rs72839966
NM_005633.3(SOS1):c.2122G>A (p.Ala708Thr) rs140811086
NM_017651.4(AHI1):c.-293G>T rs13197384
NM_017651.4(AHI1):c.3368C>T rs117447608
NM_018718.3(CEP41):c.*1859G>T rs73152869
NM_018718.3(CEP41):c.*1931C>T rs17133175
NM_018718.3(CEP41):c.*2041G>A rs73152868
NM_018718.3(CEP41):c.*2482A>T rs189091601
NM_018718.3(CEP41):c.*3507C>T rs149385617
NM_018718.3(CEP41):c.*3765G>T rs138768326
NM_018718.3(CEP41):c.*3783T>C
NM_018718.3(CEP41):c.*3856C>T
NM_018718.3(CEP41):c.*3887C>G rs62471754
NM_018718.3(CEP41):c.*4037A>G rs7793239
NM_018718.3(CEP41):c.*4295G>C rs4728195
NM_018718.3(CEP41):c.*4595G>A
NM_018718.3(CEP41):c.*5102G>A rs1990790
NM_018718.3(CEP41):c.*655C>T
NM_018718.3(CEP41):c.*927T>C
NM_018718.3(CEP41):c.-5A>C rs2287371
NM_018718.3(CEP41):c.208-5A>G rs11765434
NM_018718.3(CEP41):c.278-15A>T rs142452124
NM_018718.3(CEP41):c.320C>G (p.Ala107Gly) rs141025803
NM_018718.3(CEP41):c.575-12T>C rs186638258
NM_018718.3(CEP41):c.575-14del rs144531086
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala) rs143303575
NM_018718.3(CEP41):c.718T>G (p.Cys240Gly) rs113941736
NM_018718.3(CEP41):c.758-14dup

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