ClinVar Miner

List of variants studied for Mucopolysaccharidosis, MPS-II by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp) rs199422231
NM_000202.8(IDS):c.253G>A (p.Ala85Thr) rs113993949
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.305T>C (p.Leu102Pro) rs1557340261
NM_000202.8(IDS):c.418+2T>C rs2124062810
NM_000202.8(IDS):c.708+2T>C

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