List of variants studied for Mucopolysaccharidosis, MPS-II by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000202.8(IDS):c.1477C>T (p.Arg493Cys)	rs782190885	0.00001
NM_000202.8(IDS):c.748G>A (p.Ala250Thr)	rs782613338	0.00001
NM_000202.8(IDS):c.1170del (p.Met391fs)	rs2520782845
NM_000202.8(IDS):c.1181-1G>C	rs864622777
NM_000202.8(IDS):c.121_123del (p.Leu41del)	rs2124066296
NM_000202.8(IDS):c.1494del (p.Arg498fs)	rs2520754068
NM_000202.8(IDS):c.241C>T (p.Gln81Ter)	rs2520897240
NM_000202.8(IDS):c.442G>A (p.Asp148Asn)
NM_000202.8(IDS):c.601_602del (p.Ser201fs)	rs2124046861
NM_000202.8(IDS):c.998C>T (p.Ser333Leu)	rs104894853
NM_000203.5(IDUA):c.1045G>C (p.Asp349His)	rs368454909

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