ClinVar Miner

List of variants reported as pathogenic for Joubert syndrome 1 by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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NM_133496.5(SLC30A7):c.490_491delinsAG (p.His164Ser) rs1057519442
NM_182924.4(MICALL2):c.851C>G (p.Pro284Arg) rs556808514

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