List of variants in gene combination IDS, LOC130068781 reported as pathogenic for Mucopolysaccharidosis, MPS-II

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)

Total variants: 22

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HGVS	dbSNP	gnomAD frequency
NM_000202.7(IDS):c.-217_103del320	rs1557340558
NM_000202.8(IDS):c.12_13del (p.Arg5fs)
NM_000202.8(IDS):c.1A>T (p.Met1Leu)
NM_000202.8(IDS):c.21_22insG (p.Arg8fs)
NM_000202.8(IDS):c.22C>T (p.Arg8Ter)	rs1602750610
NM_000202.8(IDS):c.22_37del (p.Arg8fs)	rs864622775
NM_000202.8(IDS):c.28_37del (p.Leu10fs)
NM_000202.8(IDS):c.2T>C (p.Met1Thr)	rs2124069617
NM_000202.8(IDS):c.30dup (p.Leu11fs)	rs2520910813
NM_000202.8(IDS):c.35G>A (p.Trp12Ter)
NM_000202.8(IDS):c.36G>A (p.Trp12Ter)	rs2520910742
NM_000202.8(IDS):c.41del (p.Gly14fs)
NM_000202.8(IDS):c.43del (p.Leu15fs)
NM_000202.8(IDS):c.57del (p.Val20fs)	rs2124069318
NM_000202.8(IDS):c.71_90del (p.Leu24fs)
NM_000202.8(IDS):c.71dup (p.Gly25fs)
NM_000202.8(IDS):c.73G>T (p.Gly25Ter)
NM_000202.8(IDS):c.76_80dup (p.Glu27fs)
NM_000202.8(IDS):c.79G>T (p.Glu27Ter)
NM_000202.8(IDS):c.82dup (p.Thr28fs)
NM_000202.8(IDS):c.85C>T (p.Gln29Ter)
NM_000202.8(IDS):c.9_10insT (p.Pro4fs)

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