ClinVar Miner

List of variants reported as likely pathogenic for mucopolysaccharidosis type 4A by Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics

Included ClinVar conditions (1):

Mucopolysaccharidosis, MPS-IV-A

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_000512.5(GALNS):c.181C>T (p.Arg61Trp)	rs145798311	0.00004
NM_000512.5(GALNS):c.1483-15A>G	rs1461992033	0.00001
NM_000512.5(GALNS):c.1003-1570G>T	rs2142996885

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