ClinVar Miner

List of variants studied for Joubert syndrome by Integrated Genetics/Laboratory Corporation of America

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_001173990.2(TMEM216):c.218G>T (p.Arg73Leu) rs201108965
NM_001173990.2(TMEM216):c.253C>T (p.Arg85Ter) rs11230683

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