ClinVar Miner

List of variants reported as pathogenic for Joubert syndrome by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_001080522.2(CC2D2A):c.2683C>T (p.Gln895Ter) rs764719093
NM_001080522.2(CC2D2A):c.3289delG rs386833751
NM_001080522.2(CC2D2A):c.4179+1delG rs386833760
NM_001080522.2(CC2D2A):c.4465_4468del (p.Asp1489fs) rs797045437
NM_001082538.3(TCTN1):c.843+1del rs797046039
NM_001134831.2(AHI1):c.1861G>T (p.Gly621Ter) rs797045223
NM_023073.3(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_023073.3(CPLANE1):c.493del (p.Ile165fs) rs606231259
NM_023073.3(CPLANE1):c.7400+1G>A rs367543062
NM_023073.3(CPLANE1):c.7988_7989del (p.Gly2663fs) rs730882217
NM_024790.6(CSPP1):c.2244_2247del (p.Glu750fs) rs587777145
NM_024790.6(CSPP1):c.2814-9_2953+11del rs1554614893
NM_153704.5(TMEM67):c.579_580del (p.Gly195fs) rs386834202
NM_153704.5(TMEM67):c.622A>T (p.Arg208Ter) rs137853108

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