ClinVar Miner

List of variants reported as benign for DDOST-congenital disorder of glycosylation by Genome-Nilou Lab

Included ClinVar conditions (1):

Congenital disorder of glycosylation type Ir

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Show significances as they were submitted (without aggregation into standard terms)
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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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