ClinVar Miner

List of variants reported as likely 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: 2

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HGVS	dbSNP	gnomAD frequency
NM_000434.4(NEU1):c.893C>T (p.Ala298Val)	rs104893981	0.00002
NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter)	rs370803545

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