ClinVar Miner

List of variants reported as likely pathogenic for Joubert syndrome by Invitae

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
Download table as spreadsheet
HGVS dbSNP
NM_001009894.3(C12orf29):c.*870_*874CTTCT[3]
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_001329943.3(KIAA0586):c.2944+4A>C rs372841738
NM_001329943.3(KIAA0586):c.3781+2T>C rs1331480187
NM_003611.3(OFD1):c.2261-6C>G rs769923969
NM_003611.3(OFD1):c.312+1G>T rs1569102786
NM_015272.5(RPGRIP1L):c.230+1G>A rs786204135
NM_015272.5(RPGRIP1L):c.3617-2A>G
NM_015272.5(RPGRIP1L):c.883-2A>G
NM_017777.3(MKS1):c.190+2T>C rs375170572
NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys) rs121918130
NM_019892.6(INPP5E):c.1922del (p.Cys641fs) rs1431917892
NM_023073.3(CPLANE1):c.570+2T>A rs1321423759
NM_023073.3(CPLANE1):c.677+1G>C rs1414913269
NM_023073.3(CPLANE1):c.7588+1G>A rs1561458987
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.1774-6_1774-3delinsATAA rs1554556213

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.