ClinVar Miner

List of variants reported as not provided for DDOST-congenital disorder of glycosylation by GenomeConnect, ClinGen

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_005216.4(DDOST):c.20C>G (p.Ala7Gly) rs1391192747
NM_005216.5(DDOST):c.1274T>A (p.Phe425Tyr) rs374032054

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