ClinVar Miner

List of variants reported as not provided for Congenital disorder of glycosylation type Ir by GenomeConnect, ClinGen

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Total variants: 2
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HGVS dbSNP
NM_005216.4(DDOST):c.1325T>A (p.Phe442Tyr)
NM_005216.4(DDOST):c.20C>G (p.Ala7Gly) rs1391192747

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