ClinVar Miner

List of variants studied for DDOST-congenital disorder of glycosylation by Genome-Nilou Lab

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_005216.5(DDOST):c.315C>T (p.Gly105=) rs4704 0.63408
NM_005216.5(DDOST):c.646-16C>T rs607254 0.38527
NM_005216.5(DDOST):c.*40A>G rs6893
NM_005216.5(DDOST):c.1063+34dup rs11428148

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