List of variants reported as pathogenic for Mucopolysaccharidosis, MPS-II by IIFP, CONICET-UNLP

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Total variants: 31

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HGVS	dbSNP	gnomAD frequency
NM_000202.8(IDS):c.641C>T (p.Thr214Met)	rs61736892	0.01492
NM_000202.8(IDS):c.1403G>A (p.Arg468Gln)	rs113993946	0.00001
NM_000202.6(IDS):c.[1403G>A;1394A>T]
NM_000202.8(IDS):c.1016T>C (p.Leu339Pro)	rs864622771
NM_000202.8(IDS):c.1033T>A (p.Trp345Arg)	rs193302906
NM_000202.8(IDS):c.1122C>T (p.Gly374=)	rs113993948
NM_000202.8(IDS):c.1181-1G>A	rs864622777
NM_000202.8(IDS):c.1327C>T (p.Arg443Ter)	rs199422227
NM_000202.8(IDS):c.1393C>T (p.Gln465Ter)	rs864622772
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp)	rs199422231
NM_000202.8(IDS):c.1433A>G (p.Asp478Gly)	rs864622773
NM_000202.8(IDS):c.181T>C (p.Ser61Pro)	rs113993955
NM_000202.8(IDS):c.191T>A (p.Ile64Asn)	rs781997631
NM_000202.8(IDS):c.22_37del (p.Arg8fs)	rs864622775
NM_000202.8(IDS):c.241-5A>T	rs113993952
NM_000202.8(IDS):c.253G>A (p.Ala85Thr)	rs113993949
NM_000202.8(IDS):c.359C>A (p.Pro120His)	rs193302911
NM_000202.8(IDS):c.401G>A (p.Gly134Glu)	rs193302910
NM_000202.8(IDS):c.411del (p.His138fs)	rs864622776
NM_000202.8(IDS):c.425C>A (p.Ser142Tyr)	rs193302908
NM_000202.8(IDS):c.469C>T (p.Pro157Ser)	rs864622774
NM_000202.8(IDS):c.508-1G>A	rs113993947
NM_000202.8(IDS):c.592G>A (p.Asp198Asn)	rs193302904
NM_000202.8(IDS):c.613G>C (p.Ala205Pro)	rs864622779
NM_000202.8(IDS):c.683C>A (p.Pro228Gln)	rs113993945
NM_000202.8(IDS):c.708+1G>A	rs864622778
NM_000202.8(IDS):c.820G>T (p.Glu274Ter)	rs193302907
NM_000202.8(IDS):c.884A>T (p.Lys295Ile)	rs113993953
NM_000202.8(IDS):c.908_909del (p.Ser303fs)	rs193302913
NM_000202.8(IDS):c.935G>A (p.Gly312Asp)	rs193302912
NM_000202.8(IDS):c.998C>T (p.Ser333Leu)	rs104894853

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