ClinVar Miner

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

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000202.8(IDS):c.1044C>G (p.Tyr348Ter) rs1569560392
NM_000202.8(IDS):c.1269del (p.Val424fs)
NM_000202.8(IDS):c.1400C>G (p.Pro467Arg) rs1602725808
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp) rs199422231
NM_000202.8(IDS):c.1439C>T (p.Pro480Leu) rs2123994251
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.419-1G>A rs1557339927

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