ClinVar Miner

List of variants reported as uncertain significance for Mucopolysaccharidosis type 6 by Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000046.5(ARSB):c.1534G>A (p.Val512Met)	rs201928777	0.00006
NM_000046.5(ARSB):c.74C>A (p.Pro25Gln)	rs576541936	0.00001

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