ClinVar Miner

List of variants in gene TMEM216 reported as pathogenic for Joubert syndrome

Included ClinVar conditions (64):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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NM_001173990.3(TMEM216):c.217C>T (p.Arg73Cys) rs779526456
NM_001173990.3(TMEM216):c.218G>A (p.Arg73His) rs201108965
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) rs201108965
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter) rs11230683
NM_001173990.3(TMEM216):c.398T>G (p.Leu133Ter) rs755459875

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