ClinVar Miner

List of variants reported as pathogenic for Mucopolysaccharidosis, MPS-II by Genome-Nilou Lab

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Total variants: 20
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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.1122C>T (p.Gly374=) rs113993948
NM_000202.8(IDS):c.1327C>T (p.Arg443Ter) rs199422227
NM_000202.8(IDS):c.1393C>T (p.Gln465Ter) rs864622772
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp) rs199422231
NM_000202.8(IDS):c.1497T>G (p.Tyr499Ter) rs2089304408
NM_000202.8(IDS):c.1505G>A (p.Trp502Ter) rs199422228
NM_000202.8(IDS):c.1561G>A (p.Glu521Lys) rs2124648301
NM_000202.8(IDS):c.1591C>T (p.Gln531Ter) rs886044837
NM_000202.8(IDS):c.181T>C (p.Ser61Pro) rs113993955
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
NM_000202.8(IDS):c.508-1G>A rs113993947
NM_000202.8(IDS):c.514C>T (p.Arg172Ter) rs104894860
NM_000202.8(IDS):c.998C>T (p.Ser333Leu) rs104894853

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