ClinVar Miner

List of variants in gene DDOST, PINK1 studied for DDOST-congenital disorder of glycosylation

Included ClinVar conditions (1):

Congenital disorder of glycosylation type Ir

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 3

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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.831C>T (p.Ala277=)	rs6692016	0.02273
NM_005216.5(DDOST):c.*40A>G	rs6893

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