List of variants reported as pathogenic for Mucopolysaccharidosis, MPS-II by Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics

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Total variants: 44

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HGVS	dbSNP	gnomAD frequency
NM_000202.8(IDS):c.1006+2T>G	rs2089378420
NM_000202.8(IDS):c.1028G>A (p.Gly343Glu)	rs2089343063
NM_000202.8(IDS):c.1034G>C (p.Trp345Ser)	rs2089342988
NM_000202.8(IDS):c.103G>C (p.Asp35His)	rs2089514224
NM_000202.8(IDS):c.104-1_104delinsT	rs2089505743
NM_000202.8(IDS):c.1129del (p.Leu377fs)	rs2089341718
NM_000202.8(IDS):c.1150_1151insAAAGGGTCGCA (p.Phe384Ter)	rs2089341188
NM_000202.8(IDS):c.117TCT[1] (p.Leu41del)	rs2089505317
NM_000202.8(IDS):c.1191del (p.Met398fs)	rs2089308367
NM_000202.8(IDS):c.1214_1220del (p.Ser405fs)	rs2089308167
NM_000202.8(IDS):c.1221del (p.Thr409fs)	rs2089308131
NM_000202.8(IDS):c.1234G>T (p.Gly412Ter)	rs2089307950
NM_000202.8(IDS):c.1239_1240insCT (p.Ala414fs)	rs2089307879
NM_000202.8(IDS):c.133del (p.Asp45fs)	rs2089504895
NM_000202.8(IDS):c.1340T>A (p.Leu447Ter)	rs2089306573
NM_000202.8(IDS):c.1353_1357del (p.Tyr452fs)	rs2089306333
NM_000202.8(IDS):c.136G>A (p.Asp46Asn)	rs2089504816
NM_000202.8(IDS):c.136G>T (p.Asp46Tyr)	rs2089504816
NM_000202.8(IDS):c.1426_1437del (p.Asn476_Lys479del)	rs2089305217
NM_000202.8(IDS):c.1431del (p.Asp478fs)	rs2089305275
NM_000202.8(IDS):c.1438_1442del (p.Pro480fs)	rs2089305109
NM_000202.8(IDS):c.1491_1492dup (p.Arg498fs)	rs2089304532
NM_000202.8(IDS):c.240+2_240+3insTCTGGGA	rs2089503537
NM_000202.8(IDS):c.241-9C>G	rs2089497858
NM_000202.8(IDS):c.248del (p.Val83fs)	rs2089497718
NM_000202.8(IDS):c.283A>T (p.Arg95Trp)	rs2089497268
NM_000202.8(IDS):c.305del (p.Leu102fs)	rs2089496744
NM_000202.8(IDS):c.307T>G (p.Tyr103Asp)	rs2089496667
NM_000202.8(IDS):c.403A>G (p.Lys135Glu)	rs2089495673
NM_000202.8(IDS):c.512G>A (p.Cys171Tyr)	rs2089452802
NM_000202.8(IDS):c.590C>T (p.Pro197Leu)	rs2089451912
NM_000202.8(IDS):c.613del (p.Ala205fs)	rs2089451478
NM_000202.8(IDS):c.622TTG[1] (p.Leu209del)	rs2089451270
NM_000202.8(IDS):c.687del (p.His229fs)	rs2089450471
NM_000202.8(IDS):c.715_721del (p.Gln239fs)	rs2089438281
NM_000202.8(IDS):c.776_777dup (p.Pro260fs)	rs2089437359
NM_000202.8(IDS):c.786_787delinsC (p.Ala263fs)	rs2089437147
NM_000202.8(IDS):c.800_801del (p.Trp267fs)	rs2089436972
NM_000202.8(IDS):c.801dup (p.Met268fs)	rs2089436936
NM_000202.8(IDS):c.814C>T (p.Gln272Ter)	rs2089436689
NM_000202.8(IDS):c.829C>T (p.Gln277Ter)	rs2089436387
NM_000202.8(IDS):c.899_900del (p.Tyr300fs)	rs2089380268
NM_000202.8(IDS):c.998C>A (p.Ser333Ter)	rs104894853
NM_000202.8(IDS):c.[1411G>C;1418C>T]

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