ClinVar Miner

List of variants in gene DHDDS reported as pathogenic for Congenital disorder of glycosylation, type Ibb

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_205861.3(DHDDS):c.441-24A>G	rs764831063	0.00004
NM_205861.3(DHDDS):c.192G>A (p.Trp64Ter)	rs1553121545

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