ClinVar Miner

List of variants reported as pathogenic for Joubert syndrome by GeneReviews

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter) rs199469707
NM_001082538.3(TCTN1):c.221-2A>G rs367543065
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) rs201108965
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071
NM_023073.3(CPLANE1):c.4006C>T (p.Arg1336Trp) rs367543061
NM_023073.3(CPLANE1):c.4804C>T (p.Arg1602Ter) rs367543063
NM_023073.3(CPLANE1):c.6407del (p.Pro2136fs) rs367543064
NM_023073.3(CPLANE1):c.7400+1G>A rs367543062
NM_023073.3(CPLANE1):c.7477C>T (p.Arg2493Ter) rs139675596
NM_023073.3(CPLANE1):c.7957+288G>A rs111294855

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