List of variants reported as pathogenic for Mucopolysaccharidosis, MPS-II by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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

Total variants: 15

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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.1006+1G>A	rs869025308
NM_000202.8(IDS):c.1277_1450del (p.Ser426_Asp484delinsTyr)	rs2520754861
NM_000202.8(IDS):c.1327C>T (p.Arg443Ter)	rs199422227
NM_000202.8(IDS):c.134A>G (p.Asp45Gly)	rs2520901934
NM_000202.8(IDS):c.138C>A (p.Asp46Glu)	rs2520901887
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp)	rs199422231
NM_000202.8(IDS):c.257C>T (p.Pro86Leu)	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.404_405del (p.Lys135fs)	rs1557340221
NM_000202.8(IDS):c.514C>T (p.Arg172Ter)	rs104894860
NM_000202.8(IDS):c.692C>G (p.Pro231Arg)	rs2089450305
NM_000202.8(IDS):c.753del (p.Asp252fs)
NM_000202.8(IDS):c.908C>T (p.Ser303Phe)	rs2124020665

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