List of variants reported as pathogenic for Mucopolysaccharidosis, MPS-II by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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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.1403G>A (p.Arg468Gln)	rs113993946	0.00001
NM_000202.8(IDS):c.1044C>G (p.Tyr348Ter)	rs1569560392
NM_000202.8(IDS):c.1122C>T (p.Gly374=)	rs113993948
NM_000202.8(IDS):c.1295G>A (p.Cys432Tyr)
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp)	rs199422231
NM_000202.8(IDS):c.1403G>C (p.Arg468Pro)	rs113993946
NM_000202.8(IDS):c.143G>C (p.Arg48Pro)	rs1569560528
NM_000202.8(IDS):c.238C>T (p.Gln80Ter)	rs1569560527
NM_000202.8(IDS):c.253G>A (p.Ala85Thr)	rs113993949
NM_000202.8(IDS):c.257C>G (p.Pro86Arg)	rs1557340280
NM_000202.8(IDS):c.262C>T (p.Arg88Cys)	rs398123249
NM_000202.8(IDS):c.263G>A (p.Arg88His)	rs2089497431
NM_000202.8(IDS):c.409_412del (p.Phe137fs)

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