List of variants reported as pathogenic for Mucopolysaccharidosis, MPS-II by MOLECULAR BIOLOGY LABORATORY, INSTITUTO NACIONAL DE PEDIATRIA

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

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000202.7(IDS):c.-217_103del320	rs1557340558
NM_000202.8(IDS):c.1006+1G>T	rs869025308
NM_000202.8(IDS):c.1132_1133del (p.Phe378fs)	rs869025306
NM_000202.8(IDS):c.1463del (p.Met488fs)	rs869025307
NM_000202.8(IDS):c.463_464delinsCCGTATAGCTGG (p.Phe155fs)	rs869025304
NM_000202.8(IDS):c.508-1G>C	rs113993947
NM_000202.8(IDS):c.754_767del (p.Pro251_Asp252insTer)	rs869025305

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