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: 40
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HGVS dbSNP
NC_000002.12:g.201640906del
NM_001009894.3(C12orf29):c.*870_*874CTTCT[3]
NM_001077418.3(TMEM231):c.232G>T (p.Asp78Tyr) rs753709447
NM_001080522.2(CC2D2A):c.3975+4_3975+7delAGTA rs386833759
NM_001134831.2(AHI1):c.2106G>A (p.Thr702=) rs1276908141
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln) rs121434351
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_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_017777.3(MKS1):c.1389G>T (p.Arg463=) rs773269657
NM_017777.3(MKS1):c.190+2T>C rs375170572
NM_017777.3(MKS1):c.240G>T (p.Trp80Cys) rs1114167302
NM_017777.3(MKS1):c.493C>T (p.Arg165Cys) rs779953982
NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys) rs121918130
NM_019892.6(INPP5E):c.1922del (p.Cys641fs) rs1431917892
NM_023073.3(CPLANE1):c.2278C>T
NM_023073.3(CPLANE1):c.5738-2A>G rs565629362
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.6818_6818+1dup rs1060499781
NM_030578.4(B9D2):c.156_163del (p.Asp53fs) rs786204189
NM_153704.5(TMEM67):c.1321C>T (p.Arg441Cys) rs752362727
NM_153704.5(TMEM67):c.1774-6_1774-3delinsATAA rs1554556213
NM_153704.5(TMEM67):c.1843T>C (p.Cys615Arg) rs201893408

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