List of variants reported for Mucopolysaccharidosis, MPS-II by Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000202.8(IDS):c.1403G>A (p.Arg468Gln)	rs113993946	0.00001
NM_000202.8(IDS):c.1264T>C (p.Cys422Arg)	rs199422229
NM_000202.8(IDS):c.1400C>T (p.Pro467Leu)	rs1602725808
NM_000202.8(IDS):c.1478G>C (p.Arg493Pro)	rs782347729
NM_000202.8(IDS):c.1563A>T (p.Glu521Asp)	rs1602725543
NM_000202.8(IDS):c.187A>G (p.Asn63Asp)	rs193302909
NM_000202.8(IDS):c.359C>G (p.Pro120Arg)	rs193302911
NM_000202.8(IDS):c.589_592del (p.Pro197fs)	rs1602742854
NM_000202.8(IDS):c.592G>A (p.Asp198Asn)	rs193302904
NM_000202.8(IDS):c.708G>A (p.Lys236=)	rs1602742620
NM_000202.8(IDS):c.811A>T (p.Arg271Trp)	rs1602740912

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