List of variants reported as pathogenic for Mucopolysaccharidosis, MPS-II by OMIM

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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
NC_000023.11:g.(?_149478764)_(149505354_?)del
NM_000202.5(IDS):c.[1464G>T,1466G>C]
NM_000202.8(IDS):c.1122C>T (p.Gly374=)	rs113993948
NM_000202.8(IDS):c.1264T>G (p.Cys422Gly)	rs199422229
NM_000202.8(IDS):c.1327C>T (p.Arg443Ter)	rs199422227
NM_000202.8(IDS):c.1425G>A (p.Trp475Ter)	rs199422230
NM_000202.8(IDS):c.1505G>C (p.Trp502Ser)	rs199422228
NM_000202.8(IDS):c.349_351del (p.Ser117del)	rs483352905
NM_000202.8(IDS):c.404A>G (p.Lys135Arg)	rs104894861
NM_000202.8(IDS):c.479C>G (p.Pro160Arg)	rs104894856
NM_000202.8(IDS):c.509_510del (p.Thr170fs)	rs483352904
NM_000202.8(IDS):c.514C>T (p.Arg172Ter)	rs104894860
NM_000202.8(IDS):c.998C>T (p.Ser333Leu)	rs104894853

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