ClinVar Miner

List of variants studied for ALG3-congenital disorder of glycosylation by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_005787.6(ALG3):c.1024C>A (p.Leu342Ile) rs568371168 0.00001
NM_005787.6(ALG3):c.165C>T (p.Gly55=) rs387906273 0.00001

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