ClinVar Miner

List of variants studied for Joubert syndrome by Genome-Nilou Lab

Included ClinVar conditions (97):
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ClinVar version:
Total variants: 127
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HGVS dbSNP gnomAD frequency
NM_001384732.1(CPLANE1):c.81+20= rs6876576 0.99993
NM_001352754.2(ARMC9):c.538A>G (p.Ile180Val) rs1626450 0.99989
NM_016169.4(SUFU):c.*20T>G rs4917980 0.99823
NM_004311.4(ARL3):c.264+49_264+50del rs59504153 0.99810
NM_001329943.3(KIAA0586):c.1119G>A (p.Ser373=) rs1748971 0.99666
NM_001329943.3(KIAA0586):c.3166C>G (p.Pro1056Ala) rs1617510 0.97836
NM_001329943.3(KIAA0586):c.2254+25A>G rs1743716 0.97716
NM_001329943.3(KIAA0586):c.1254-25G>A rs1743721 0.97577
NM_001329943.3(KIAA0586):c.2528T>C (p.Leu843Pro) rs1748986 0.97574
NM_001378615.1(CC2D2A):c.4065+28A>T rs6832789 0.95746
NM_025114.4(CEP290):c.6645+67G>A rs2471512 0.92744
NM_025114.4(CEP290):c.2268A>G (p.Ser756=) rs2468255 0.91372
NM_014704.4(CEP104):c.744A>G (p.Glu248=) rs1891941 0.90437
NM_014704.4(CEP104):c.1837-28G>C rs2275826 0.90435
NM_014704.4(CEP104):c.1836+7A>G rs6413779 0.90433
NM_025114.4(CEP290):c.853-12_853-11insG rs71082425 0.87640
NM_001378615.1(CC2D2A):c.40-122A>C rs9993580 0.86610
NM_001378615.1(CC2D2A):c.247+26A>G rs10000250 0.85108
NM_001173990.3(TMEM216):c.264G>A (p.Pro88=) rs3741265 0.84043
NM_001173990.3(TMEM216):c.432-1G>C rs10897158 0.83918
NM_001134831.2(AHI1):c.1780-14C>T rs2757645 0.81825
NM_015272.5(RPGRIP1L):c.1104-82C>T rs4133017 0.80982
NM_025114.4(CEP290):c.2818-50G>C rs2471532 0.76931
NM_001378615.1(CC2D2A):c.1764+45T>G rs1558572 0.75139
NM_001134831.2(AHI1):c.10+115C>A rs9402709 0.73311
NM_001375405.1(CEP120):c.2826T>C (p.Asp942=) rs1047438 0.71452
NM_001378615.1(CC2D2A):c.3183-8T>C rs13121363 0.69106
NM_001378615.1(CC2D2A):c.3595-55C>G rs4280723 0.68939
NM_001378615.1(CC2D2A):c.3288+41A>C rs13116304 0.68417
NM_016169.4(SUFU):c.1365+19T>C rs12414407 0.68304
NM_014704.4(CEP104):c.2151+43A>G rs2275832 0.67270
NM_014704.4(CEP104):c.2662+62A>G rs6703035 0.66882
NM_153704.6(TMEM67):c.1066-3C>T rs3097427 0.65125
NM_001044385.3(TMEM237):c.274+23A>G rs1208081 0.64988
NM_153704.6(TMEM67):c.1810A>G (p.Ile604Val) rs3134031 0.64845
NM_014704.4(CEP104):c.2663-22A>G rs4648409 0.64762
NM_014704.4(CEP104):c.2663-91G>A rs4233019 0.64758
NM_014804.3(KIAA0753):c.2687A>G (p.Gln896Arg) rs1443417 0.64459
NM_014804.3(KIAA0753):c.*21A>G rs3744720 0.64367
NM_014804.3(KIAA0753):c.1397T>C (p.Leu466Pro) rs2289642 0.64327
NM_014804.3(KIAA0753):c.1716T>C (p.Ala572=) rs4796519 0.61925
NM_001134831.2(AHI1):c.3426+13G>A rs6914831 0.59084
NM_001378615.1(CC2D2A):c.*21G>C rs1134634 0.57021
NM_015681.6(B9D1):c.63+23G>A rs10445411 0.56182
NM_015681.6(B9D1):c.472+28C>T rs4924987 0.56102
NM_024809.5(TCTN2):c.1128T>C (p.Pro376=) rs7966867 0.54127
NM_017777.4(MKS1):c.858+9A>G rs3826300 0.53797
NM_001378615.1(CC2D2A):c.1765-24A>G rs1861044 0.52710
NM_017777.4(MKS1):c.750-105T>C rs3744105 0.52601
NM_014804.3(KIAA0753):c.1330G>A (p.Asp444Asn) rs2289643 0.50140
NM_024809.5(TCTN2):c.1099+19T>C rs7137946 0.49905
NM_024809.5(TCTN2):c.891+22T>C rs7302449 0.49786
NM_016169.4(SUFU):c.182+16C>T rs2274351 0.46492
NM_001375405.1(CEP120):c.816C>T (p.His272=) rs6876883 0.44446
NM_019892.6(INPP5E):c.1248T>C (p.Thr416=) rs10781542 0.42574
NM_019892.6(INPP5E):c.1284T>C (p.Gly428=) rs10870194 0.42571
NM_014704.4(CEP104):c.558G>A (p.Thr186=) rs2275822 0.41945
NM_015272.5(RPGRIP1L):c.2959-32G>A rs7203525 0.39281
NM_018718.3(CEP41):c.-5A>C rs2287371 0.39010
NM_014704.4(CEP104):c.2152-11C>T rs6663840 0.38899
NM_014804.3(KIAA0753):c.69C>T (p.Ser23=) rs2301873 0.38122
NM_001128178.3(NPHP1):c.654G>A (p.Glu218=) rs11675767 0.38033
NM_015272.5(RPGRIP1L):c.*55T>A rs4784319 0.37955
NM_017777.4(MKS1):c.261+67A>G rs7225148 0.34040
NM_014704.4(CEP104):c.1240T>A (p.Leu414Ile) rs2275824 0.32901
NM_014804.3(KIAA0753):c.1125A>T (p.Glu375Asp) rs9889363 0.32553
NM_006346.4(PIBF1):c.499A>G (p.Ile167Val) rs1372000 0.31812
NM_014804.3(KIAA0753):c.1697C>T (p.Pro566Leu) rs2304977 0.29101
NM_003611.3(OFD1):c.1129+16A>G rs3815049 0.28815
NM_015631.6(TCTN3):c.1204-43T>C rs17461546 0.26815
NM_001378615.1(CC2D2A):c.3595-22C>T rs4280724 0.26743
NM_015272.5(RPGRIP1L):c.1401+127A>G rs7192060 0.22379
NM_015631.6(TCTN3):c.1453-28A>G rs12784530 0.21461
NM_001378615.1(CC2D2A):c.3201G>A (p.Ser1067=) rs73125627 0.20422
NM_015272.5(RPGRIP1L):c.3432+67G>A rs113961478 0.19784
NM_006346.4(PIBF1):c.672+38G>A rs9543124 0.14429
NM_015272.5(RPGRIP1L):c.3428C>G (p.Thr1143Ser) rs111775292 0.14245
NM_001378615.1(CC2D2A):c.2182-24C>T rs2041673 0.13533
NM_001378615.1(CC2D2A):c.2830-38G>T rs35309200 0.12892
NM_015272.5(RPGRIP1L):c.3073G>A (p.Gly1025Ser) rs2111119 0.10881
NM_015272.5(RPGRIP1L):c.3936C>T (p.Asp1312=) rs4784320 0.10532
NM_019892.6(INPP5E):c.972A>G (p.Pro324=) rs10870199 0.10324
NM_017777.4(MKS1):c.1024+128C>T rs72839966 0.08242
NM_017777.4(MKS1):c.191-44G>A rs73329636 0.06342
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_015272.5(RPGRIP1L):c.2231G>A (p.Arg744Gln) rs2302677 0.02738
NM_015272.5(RPGRIP1L):c.1341G>A (p.Leu447=) rs61743997 0.02259
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr) rs117852025 0.00488
NM_001173990.3(TMEM216):c.35-17C>T rs147953784 0.00450
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln) rs188164241 0.00405
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=) rs117370446 0.00329
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His) rs183655276 0.00187
NM_017777.4(MKS1):c.1349T>C (p.Ile450Thr) rs200865108 0.00157
NM_025114.4(CEP290):c.341G>A (p.Arg114His) rs150296134 0.00073
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met) rs201988582 0.00054
NM_025114.4(CEP290):c.6116A>G (p.Asp2039Gly) rs192259143 0.00032
NM_025114.4(CEP290):c.1729C>T (p.Leu577=) rs201295052 0.00020
NM_025114.4(CEP290):c.4555A>T (p.Ile1519Leu) rs200817579 0.00016
NM_025114.4(CEP290):c.4754A>G (p.His1585Arg) rs199826787 0.00006
NM_017777.4(MKS1):c.190+2T>C rs375170572 0.00004
NM_017777.4(MKS1):c.1465C>T (p.Arg489Cys) rs1003579700 0.00001
NM_017777.4(MKS1):c.728C>T (p.Thr243Met) rs749668169 0.00001
NM_025114.4(CEP290):c.2423A>G (p.Tyr808Cys) rs773007151 0.00001
NM_025114.4(CEP290):c.3709C>T (p.Arg1237Cys) rs768864296 0.00001
NM_025114.4(CEP290):c.4150C>T (p.Arg1384Cys) rs794727563 0.00001
NM_025114.4(CEP290):c.6193A>G (p.Asn2065Asp) rs886043119 0.00001
NM_001134831.2(AHI1):c.2037-77G>A rs737561
NM_001173990.3:c.432-11_432-10insA
NM_001321218.2(B9D1):c.*61C>T rs11652712
NM_001329943.3(KIAA0586):c.3305-8dup rs5808973
NM_001352754.2(ARMC9):c.2205dup (p.Thr736fs) rs35889244
NM_003611.3(OFD1):c.1412-11del rs36052228
NM_014804.3(KIAA0753):c.507T>C (p.Ser169=) rs2072149
NM_017777.4(MKS1):c.763G>C (p.Gly255Arg) rs201237547
NM_019892.6(INPP5E):c.1521C>T (p.His507=) rs10870188
NM_019892.6(INPP5E):c.1791G>A (p.Pro597=) rs10870182
NM_019892.6(INPP5E):c.812+7_812+10del rs5901103
NM_025114.4(CEP290):c.1310del (p.Lys437fs) rs2137917381
NM_025114.4(CEP290):c.164_167del (p.Thr55fs) rs758550675
NM_025114.4(CEP290):c.2390del (p.Lys797fs) rs781670422
NM_025114.4(CEP290):c.3574-9del rs10717563
NM_025114.4(CEP290):c.6277G>A (p.Val2093Ile) rs2034578914
NM_025114.4(CEP290):c.6522+5dup rs11405846
NM_025114.4(CEP290):c.6634G>A (p.Glu2212Lys) rs2034330893
NM_025114.4(CEP290):c.7283_7286dup (p.Tyr2429Ter) rs773642187

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