ClinVar Miner

List of variants studied for oligosaccharidosis by New York Genome Center

Included ClinVar conditions (16):

Alpha-N-acetylgalactosaminidase deficiency
Alpha-N-acetylgalactosaminidase deficiency type 1
Alpha-N-acetylgalactosaminidase deficiency type 2
Alpha-N-acetylgalactosaminidase deficiency type 2; Alpha-N-acetylgalactosaminidase deficiency type 1
Alpha-N-acetylgalactosaminidase deficiency type 2; Alpha-N-acetylgalactosaminidase deficiency type 1; Alpha-N-acetylgalactosaminidase deficiency type 3
Alpha-N-acetylgalactosaminidase deficiency type 3
Aspartylglucosaminuria
Beta-D-mannosidosis
Combined deficiency of sialidase AND beta galactosidase
Deficiency of alpha-mannosidase
Fucosidosis
Mannosidosis, alpha-, types I and II
Sialidosis
Sialidosis type 1
Sialidosis type 2
Sialidosis type 2; Non-immune hydrops fetalis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 3

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000528.4(MAN2B1):c.1830+1G>C	rs80338677	0.00008
NM_005908.4(MANBA):c.2207C>T (p.Thr736Ile)	rs202100945	0.00001
NM_000308.4(CTSA):c.445-18_447del	rs1987030082

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