ClinVar Miner

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

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 115
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HGVS dbSNP gnomAD frequency
NM_001134831.2(AHI1):c.1780-14C>T rs2757645 0.81825
NM_015272.5(RPGRIP1L):c.1104-82C>T rs4133017 0.80982
NM_001134831.2(AHI1):c.10+115C>A rs9402709 0.73311
NM_001044385.3(TMEM237):c.274+23A>G rs1208081 0.64988
NM_001134831.2(AHI1):c.3426+13G>A rs6914831 0.59084
NM_018718.3(CEP41):c.*5102G>A rs1990790 0.54035
NM_017777.4(MKS1):c.858+9A>G rs3826300 0.53797
NM_017777.4(MKS1):c.750-105T>C rs3744105 0.53777
NM_015272.5(RPGRIP1L):c.2959-32G>A rs7203525 0.39281
NM_018718.3(CEP41):c.-5A>C rs2287371 0.39010
NM_001128178.3(NPHP1):c.654G>A (p.Glu218=) rs11675767 0.38033
NM_015272.5(RPGRIP1L):c.*737T>G rs3760008 0.37956
NM_015272.5(RPGRIP1L):c.*55T>A rs4784319 0.37955
NM_015272.5(RPGRIP1L):c.*1693G>A rs1946155 0.37946
NM_018718.3(CEP41):c.*4295G>C rs4728195 0.36596
NM_017777.4(MKS1):c.261+67A>G rs7225148 0.34782
NM_017651.4(AHI1):c.-293G>T rs13197384 0.29491
NM_001134831.2(AHI1):c.*218C>T rs1052502 0.27386
NM_001077418.3(TMEM231):c.582+17T>A rs2738801 0.27293
NM_018718.3(CEP41):c.*4037A>G rs7793239 0.23508
NM_015272.5(RPGRIP1L):c.1401+127A>G rs7192060 0.22379
NM_001077418.3(TMEM231):c.-6G>C rs3743602 0.21908
NM_015272.5(RPGRIP1L):c.3432+67G>A rs113961478 0.19784
NM_018718.3(CEP41):c.*2041G>A rs73152868 0.18522
NM_018718.3(CEP41):c.*1859G>T rs73152869 0.17105
NM_018718.3(CEP41):c.*1931C>T rs17133175 0.15684
NM_015272.5(RPGRIP1L):c.3428C>G (p.Thr1143Ser) rs111775292 0.14328
NM_018718.3(CEP41):c.*3887C>G rs62471754 0.11370
NM_015272.5(RPGRIP1L):c.3936C>T (p.Asp1312=) rs4784320 0.10935
NM_015272.5(RPGRIP1L):c.3073G>A (p.Gly1025Ser) rs2111119 0.10881
NM_001077418.3(TMEM231):c.16C>G (p.Leu6Val) rs3743601 0.10494
NM_001077418.3(TMEM231):c.813G>A (p.Val271=) rs2242406 0.08287
NM_017777.4(MKS1):c.1024+128C>T rs72839966 0.08242
NM_001044385.3(TMEM237):c.1096G>T (p.Ala366Ser) rs73989521 0.07946
NM_017777.4(MKS1):c.191-44G>A rs73329636 0.06658
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071 0.04969
NM_015272.5(RPGRIP1L):c.530-29G>A rs74393433 0.04932
NM_015272.5(RPGRIP1L):c.3790G>A (p.Asp1264Asn) rs3213758 0.04663
NM_001134831.2(AHI1):c.-299G>A rs113052089 0.03529
NM_001128178.3(NPHP1):c.771+39C>T rs73954628 0.03266
NM_015272.5(RPGRIP1L):c.2231G>A (p.Arg744Gln) rs2302677 0.02738
NM_001128178.3(NPHP1):c.115C>A (p.Pro39Thr) rs33958626 0.02731
NM_001134831.2(AHI1):c.2223T>C (p.Asp741=) rs2273761 0.02399
NM_001044385.3(TMEM237):c.9T>G (p.Thr3=) rs6736435 0.02349
NM_001077418.3(TMEM231):c.582+8C>G rs144252983 0.02257
NM_015272.5(RPGRIP1L):c.1341G>A (p.Leu447=) rs61743997 0.02188
NM_018718.3(CEP41):c.*927T>C rs73152870 0.02074
NM_001134831.2(AHI1):c.2488C>T (p.Arg830Trp) rs13312995 0.02035
NM_001044385.3(TMEM237):c.395+7A>G rs78297522 0.01932
NM_001077418.3(TMEM231):c.582+3A>G rs114290622 0.01823
NM_001134831.2(AHI1):c.3053A>C (p.Gln1018Pro) rs6940875 0.01691
NM_001134831.2(AHI1):c.3015A>G (p.Ser1005=) rs41287054 0.01682
NM_001134831.2(AHI1):c.2624-6A>G rs41288015 0.01635
NM_015272.5(RPGRIP1L):c.2959-15T>C rs11863101 0.01368
NM_018718.3(CEP41):c.*3507C>T rs149385617 0.01355
NM_001134831.2(AHI1):c.1152-11T>G rs113317693 0.01324
NM_001077418.3(TMEM231):c.177G>C (p.Pro59=) rs78196225 0.01307
NM_018718.3(CEP41):c.*3765G>T rs138768326 0.01276
NM_001044385.3(TMEM237):c.-12G>A rs113186360 0.01229
NM_001128178.3(NPHP1):c.689C>T (p.Ala230Val) rs113450177 0.01140
NM_001134831.2(AHI1):c.804A>C (p.Ser268=) rs35528530 0.01078
NM_001134831.2(AHI1):c.1643G>A (p.Arg548His) rs35433555 0.01070
NM_018718.3(CEP41):c.*3783T>C rs117071818 0.01015
NM_001044385.3(TMEM237):c.*1489G>C rs78220061 0.00855
NM_001044385.3(TMEM237):c.75-13T>C rs116829037 0.00764
NM_018718.3(CEP41):c.718T>G (p.Cys240Gly) rs113941736 0.00760
NM_001134831.2(AHI1):c.3579T>C (p.Thr1193=) rs115338154 0.00537
NM_001044385.3(TMEM237):c.80-11T>C rs76296365 0.00503
NM_001134831.2(AHI1):c.3368C>T (p.Ser1123Phe) rs117447608 0.00497
NM_000297.4(PKD2):c.2398A>C (p.Met800Leu) rs2234917 0.00481
NM_001077418.3(TMEM231):c.498G>A (p.Pro166=) rs201636741 0.00468
NM_018718.3(CEP41):c.208-5A>G rs11765434 0.00453
NM_001077418.3(TMEM231):c.891G>A (p.Val297=) rs149888762 0.00375
NM_001134831.2(AHI1):c.517G>A (p.Ala173Thr) rs146416468 0.00348
NM_018718.3(CEP41):c.*2482A>T rs189091601 0.00317
NM_005633.4(SOS1):c.2122G>A (p.Ala708Thr) rs140811086 0.00280
NM_001044385.3(TMEM237):c.136+8G>A rs200618675 0.00220
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala) rs143303575 0.00218
NM_001044385.3(TMEM237):c.554-15G>A rs144051344 0.00213
NM_001044385.3(TMEM237):c.1134T>C (p.Tyr378=) rs77570029 0.00211
NM_001044385.3(TMEM237):c.396-14C>T rs74411816 0.00210
NM_018718.3(CEP41):c.*655C>T rs141441037 0.00185
NM_018718.3(CEP41):c.575-12T>C rs186638258 0.00185
NM_001077418.3(TMEM231):c.91G>A (p.Ala31Thr) rs202215735 0.00182
NM_001044385.3(TMEM237):c.348G>A (p.Ala116=) rs191125006 0.00163
NM_001077418.3(TMEM231):c.804C>T (p.Phe268=) rs149118721 0.00144
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791 0.00115
NM_001044385.3(TMEM237):c.*564T>C rs141560423 0.00113
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=) rs149240122 0.00111
NM_001077418.3(TMEM231):c.900T>C (p.Ile300=) rs199628375 0.00089
NM_018718.3(CEP41):c.*3856C>T rs187532705 0.00082
NM_001077418.3(TMEM231):c.471G>A (p.Ala157=) rs375273015 0.00077
NM_018718.3(CEP41):c.*4595G>A rs117814753 0.00046
NM_001044385.3(TMEM237):c.475A>G (p.Thr159Ala) rs199500256 0.00034
NM_001077418.3(TMEM231):c.140-28C>G rs375353411 0.00019
NM_001044385.3(TMEM237):c.869+10A>G rs376868416 0.00016
NM_001077418.3(TMEM231):c.376C>T (p.Leu126=) rs557695110 0.00007
NM_018718.3(CEP41):c.320C>G (p.Ala107Gly) rs141025803 0.00006
NM_001044385.3(TMEM237):c.274+11A>G rs200487330 0.00004
NM_001044385.3(TMEM237):c.33G>A (p.Glu11=) rs544767440 0.00004
NM_015272.5(RPGRIP1L):c.3395A>G (p.Gln1132Arg) rs561414163 0.00004
NM_001044385.3(TMEM237):c.396-13G>A rs570600190 0.00003
NM_001044385.3(TMEM237):c.74+16A>G rs538615771 0.00002
NC_000016.9:g.(?_75573892)_(75575373_?)dup
NC_000016.9:g.(?_75573892)_(75576601_?)dup
NM_001044385.3(TMEM237):c.1159+17del rs766664373
NM_001044385.3(TMEM237):c.1159+17dup
NM_001044385.3(TMEM237):c.678-20_678-17del rs754336127
NM_001044385.3(TMEM237):c.80-18dup rs747217784
NM_001044385.3(TMEM237):c.870-13_870-12del rs555284377
NM_001134831.2(AHI1):c.*28G>C rs9494209
NM_001134831.2(AHI1):c.2037-77G>A rs737561
NM_018718.3(CEP41):c.278-15A>T rs142452124
NM_018718.3(CEP41):c.575-14del rs144531086
NM_018718.3(CEP41):c.758-14dup rs1156468685

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