ClinVar Miner

List of variants reported as likely pathogenic for Mucopolysaccharidosis, MPS-II by Myriad Genetics, Inc.

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000202.8(IDS):c.292del (p.Asp98fs) rs2520896777
NM_000202.8(IDS):c.341del (p.Gly114fs) rs2520896006
NM_000202.8(IDS):c.369_372del (p.Phe123fs) rs2520895663
NM_000202.8(IDS):c.631A>T (p.Lys211Ter) rs2520863392
NM_000202.8(IDS):c.636del (p.Met212fs) rs2520863301
NM_000202.8(IDS):c.671_672del (p.Gly224fs) rs2520862741
NM_000202.8(IDS):c.695dup (p.Arg233fs) rs2520862364
NM_000202.8(IDS):c.696_697del (p.Phe232fs) rs2520862342
NM_000202.8(IDS):c.741_743delinsTA (p.Leu249fs) rs2520852344
NM_000202.8(IDS):c.817C>T (p.Arg273Trp) rs1602740899

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