ClinVar Miner

List of variants reported as likely pathogenic for Joubert syndrome 1

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 52
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HGVS dbSNP
NC_000004.11:g.15589466_15589468delGAA rs794729225
NC_000012.11:g.88465636C>G
NM_001009894.3(C12orf29):c.*870_*874CTTCT[3]
NM_001044385.3(TMEM237):c.62del (p.Pro21fs)
NM_001077418.3(TMEM231):c.232G>T (p.Asp78Tyr) rs753709447
NM_001080522.2(CC2D2A):c.3975+4_3975+7del rs386833759
NM_001134831.2(AHI1):c.1205del (p.Pro402fs) rs794729195
NM_001134831.2(AHI1):c.1779G>T (p.Gln593His)
NM_001134831.2(AHI1):c.1829G>C (p.Arg610Pro)
NM_001134831.2(AHI1):c.2106G>A (p.Thr702=) rs1276908141
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln) rs121434351
NM_001142301.1(TMEM67):c.1078C>T (p.Arg360Cys) rs752362727
NM_001142301.1(TMEM67):c.1531-6_1531-3inv rs1554556213
NM_001142301.1(TMEM67):c.1600T>C (p.Cys534Arg) rs201893408
NM_001165927.1(MKS1):c.1359G>T (p.Arg453=) rs773269657
NM_001165927.1(MKS1):c.160+2T>C rs375170572
NM_001165927.1(MKS1):c.210G>T (p.Trp70Cys) rs1114167302
NM_001165927.1(MKS1):c.463C>T (p.Arg155Cys) rs779953982
NM_001173990.3(TMEM216):c.137-1G>A rs1554972547
NM_003611.3(OFD1):c.2261-6C>G rs769923969
NM_003611.3(OFD1):c.312+1G>T rs1569102786
NM_006346.4(PIBF1):c.1214G>A (p.Arg405Gln) rs17089782
NM_006346.4(PIBF1):c.1669del (p.Leu557fs) rs863225214
NM_014804.3(KIAA0753):c.810C>T (p.Tyr270=) rs752659088
NM_015041.3(CLUAP1):c.338T>G (p.Met113Arg) rs768663992
NM_015041.3(CLUAP1):c.688C>T (p.Arg230Ter) rs769705065
NM_015156.4(RCOR1):c.446-3C>T rs754404879
NM_015202.4(KIAA0556):c.2674C>T (p.Gln892Ter) rs864309712
NM_015272.5(RPGRIP1L):c.230+1G>A rs786204135
NM_015272.5(RPGRIP1L):c.2992del (p.Ile998fs) rs767018622
NM_015272.5(RPGRIP1L):c.3617-2A>G
NM_015272.5(RPGRIP1L):c.883-2A>G
NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys) rs121918130
NM_019892.6(INPP5E):c.1388C>T (p.Ala463Val)
NM_019892.6(INPP5E):c.1922del (p.Cys641fs) rs1431917892
NM_023073.3(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_023073.3(CPLANE1):c.2278C>T (p.Gln760Ter)
NM_023073.3(CPLANE1):c.3104G>C (p.Gly1035Ala)
NM_023073.3(CPLANE1):c.5738-2A>G rs565629362
NM_023073.3(CPLANE1):c.8855+1G>A rs863225154
NM_025114.3(CEP290):c.1523-1G>T rs1192112844
NM_025114.3(CEP290):c.180+1G>A rs758593134
NM_025114.3(CEP290):c.4437+1G>A rs760915898
NM_025114.3(CEP290):c.4438-318_7243del
NM_025114.3(CEP290):c.4438-3delC rs747323414
NM_025114.3(CEP290):c.4813-2A>G rs369523378
NM_025114.3(CEP290):c.6358-1G>A rs766670248
NM_025114.3(CEP290):c.6645+1G>A rs201218801
NM_025114.4(CEP290):c.14T>C (p.Ile5Thr)
NM_025114.4(CEP290):c.4704G>C (p.Glu1568Asp)
NM_025114.4(CEP290):c.6818_6818+1dup rs1060499781
NM_030578.4(B9D2):c.156_163del (p.Asp53fs) rs786204189

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