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

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Show significances as they were submitted (without aggregation into standard terms)

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000202.8(IDS):c.781C>G (p.Pro261Ala)	rs141720810	0.00055
NM_000202.8(IDS):c.880-72A>G	rs782031668	0.00005
NM_000202.8(IDS):c.1007-4C>T	rs781947914	0.00001
NM_000202.8(IDS):c.1007-15_1007-9delinsGTGGGCTCTAGG
NM_000202.8(IDS):c.124ATC[4] (p.Ile43_Val44insIleIle)
NM_000202.8(IDS):c.1405C>G (p.Pro469Ala)
NM_000202.8(IDS):c.217C>T (p.Leu73Phe)
NM_000202.8(IDS):c.241-5A>T	rs113993952
NM_000202.8(IDS):c.311A>T (p.Asp104Val)
NM_000202.8(IDS):c.418+4C>G	rs782011209
NM_000202.8(IDS):c.709-657G>A
NM_000202.8(IDS):c.779C>G (p.Pro260Arg)
NM_000202.8(IDS):c.884A>T (p.Lys295Ile)	rs113993953

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