ClinVar Miner

List of variants reported as benign for Joubert syndrome with ocular defect by Illumina Laboratory Services, Illumina

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_001134831.2(AHI1):c.1780-14C>T rs2757645 0.81825
NM_001134831.2(AHI1):c.3426+13G>A rs6914831 0.59084
NM_018718.3(CEP41):c.*5102G>A rs1990790 0.54035
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_017651.4(AHI1):c.-293G>T rs13197384 0.29491
NM_001134831.2(AHI1):c.*218C>T rs1052502 0.27386
NM_018718.3(CEP41):c.*4037A>G rs7793239 0.23508
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_001044385.3(TMEM237):c.1096G>T (p.Ala366Ser) rs73989521 0.07946
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071 0.04969
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_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_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_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_001134831.2(AHI1):c.3579T>C (p.Thr1193=) rs115338154 0.00537
NM_001134831.2(AHI1):c.3368C>T (p.Ser1123Phe) rs117447608 0.00497
NM_001134831.2(AHI1):c.517G>A (p.Ala173Thr) rs146416468 0.00348
NM_018718.3(CEP41):c.*2482A>T rs189091601 0.00317
NM_018718.3(CEP41):c.*655C>T rs141441037 0.00185
NM_001044385.3(TMEM237):c.*564T>C rs141560423 0.00113
NM_018718.3(CEP41):c.*3856C>T rs187532705 0.00082
NM_018718.3(CEP41):c.*4595G>A rs117814753 0.00046
NM_015272.5(RPGRIP1L):c.3395A>G (p.Gln1132Arg) rs561414163 0.00004
NM_001134831.2(AHI1):c.*28G>C rs9494209

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