ClinVar Miner

List of variants studied for ALG1-congenital disorder of glycosylation by Genome Diagnostics Laboratory, University Medical Center Utrecht

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_019109.5(ALG1):c.800G>A (p.Ser267Asn) rs17849848 0.06910
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu) rs28939378 0.00036

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