ClinVar Miner

List of variants reported as pathogenic for mucopolysaccharidosis type 3B by 3billion, Medical Genetics

Included ClinVar conditions (2):

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)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter)	rs104894592	0.00010
NM_000263.4(NAGLU):c.1444C>T (p.Arg482Trp)	rs104894596	0.00001
NM_000263.4(NAGLU):c.1694G>C (p.Arg565Pro)	rs104894598

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