ClinVar Miner

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

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Gene type:
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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_000202.8(IDS):c.1478G>A (p.Arg493His) rs782347729 0.00002
NM_000202.8(IDS):c.1477C>T (p.Arg493Cys) rs782190885 0.00001
NM_000202.8(IDS):c.104-2A>G rs2089505773
NM_000202.8(IDS):c.111_112insGA (p.Asn38fs)
NM_000202.8(IDS):c.117TCT[1] (p.Leu41del) rs2089505317
NM_000202.8(IDS):c.121_123del (p.Leu41del) rs2124066296
NM_000202.8(IDS):c.1249C>T (p.Gln417Ter) rs2123994961
NM_000202.8(IDS):c.1254del (p.Pro419fs) rs2123994946
NM_000202.8(IDS):c.1259del (p.Pro420fs) rs2089307675
NM_000202.8(IDS):c.1264T>C (p.Cys422Arg) rs199422229
NM_000202.8(IDS):c.1264T>G (p.Cys422Gly) rs199422229
NM_000202.8(IDS):c.1265G>A (p.Cys422Tyr) rs886044835
NM_000202.8(IDS):c.1269del (p.Val424fs)
NM_000202.8(IDS):c.133G>C (p.Asp45His) rs869025301
NM_000202.8(IDS):c.1345_1349del (p.Glu449fs)
NM_000202.8(IDS):c.136G>T (p.Asp46Tyr) rs2089504816
NM_000202.8(IDS):c.1375G>T (p.Glu459Ter) rs2123994508
NM_000202.8(IDS):c.1400C>G (p.Pro467Arg) rs1602725808
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp) rs199422231
NM_000202.8(IDS):c.1406C>T (p.Pro469Leu) rs2123994360
NM_000202.8(IDS):c.1418C>T (p.Pro473Leu) rs2089305403
NM_000202.8(IDS):c.1436_1457dup (p.Ile487fs) rs2123994213
NM_000202.8(IDS):c.1439C>T (p.Pro480Leu) rs2123994251
NM_000202.8(IDS):c.143G>C (p.Arg48Pro) rs1569560528
NM_000202.8(IDS):c.1442delinsTC (p.Ser481fs) rs2123994237
NM_000202.8(IDS):c.1454T>A (p.Ile485Lys) rs782430567
NM_000202.8(IDS):c.1478G>C (p.Arg493Pro) rs782347729
NM_000202.8(IDS):c.1494del (p.Arg498fs)
NM_000202.8(IDS):c.1504T>G (p.Trp502Gly) rs2089304297
NM_000202.8(IDS):c.1563A>T (p.Glu521Asp) rs1602725543
NM_000202.8(IDS):c.1568A>G (p.Tyr523Cys) rs2089303696
NM_000202.8(IDS):c.1591C>T (p.Gln531Ter) rs886044837
NM_000202.8(IDS):c.187A>G (p.Asn63Asp) rs193302909
NM_000202.8(IDS):c.205_206insAAACTGGCAT (p.Ser69Ter) rs2124065847
NM_000202.8(IDS):c.212G>T (p.Ser71Ile) rs113993954
NM_000202.8(IDS):c.241-3C>G rs2124063783
NM_000202.8(IDS):c.253G>A (p.Ala85Thr) rs113993949
NM_000202.8(IDS):c.263G>A (p.Arg88His) rs2089497431
NM_000202.8(IDS):c.275T>C (p.Leu92Pro) rs2089497300
NM_000202.8(IDS):c.285_287del (p.Arg96del)
NM_000202.8(IDS):c.292del (p.Asp98fs)
NM_000202.8(IDS):c.322T>G (p.Tyr108Asp)
NM_000202.8(IDS):c.328A>G (p.Arg110Gly) rs2124063287
NM_000202.8(IDS):c.341del (p.Gly114fs)
NM_000202.8(IDS):c.353C>T (p.Thr118Ile)
NM_000202.8(IDS):c.356del (p.Ile119fs) rs2124063133
NM_000202.8(IDS):c.359C>G (p.Pro120Arg) rs193302911
NM_000202.8(IDS):c.369_372del (p.Phe123fs)
NM_000202.8(IDS):c.404A>G (p.Lys135Arg) rs104894861

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