ClinVar Miner

List of variants reported as pathogenic for oligosaccharidosis by Illumina Laboratory Services, Illumina

Included ClinVar conditions (16):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000308.4(CTSA):c.692+3A>G	rs786200859
NM_000528.4(MAN2B1):c.1383C>A (p.Tyr461Ter)	rs775200333
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp)	rs80338680

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