List of variants reported as pathogenic for Mucopolysaccharidosis, MPS-II by Invitae

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 79

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HGVS	dbSNP	gnomAD frequency
NM_000202.8(IDS):c.1403G>A (p.Arg468Gln)	rs113993946	0.00001
NC_000023.10:g.(?_148564257)_(148586687_?)del
NC_000023.10:g.(?_148564267)_(148586894_?)del
NC_000023.10:g.(?_148564277)_(148564769_?)del
NC_000023.10:g.(?_148564277)_(148586667_?)del
NC_000023.10:g.(?_148571835)_(148582578_?)del
NC_000023.10:g.(?_148577857)_(148579858_?)del
NC_000023.10:g.(?_148578704)_(148586687_?)del
NC_000023.10:g.(?_148579618)_(148586687_?)del
NM_000202.8(IDS):c.1004A>G (p.His335Arg)
NM_000202.8(IDS):c.1006+1G>C
NM_000202.8(IDS):c.1007-1G>A
NM_000202.8(IDS):c.1019G>A (p.Gly340Asp)
NM_000202.8(IDS):c.104-2A>G	rs2089505773
NM_000202.8(IDS):c.1106C>A (p.Ser369Ter)	rs1557338127
NM_000202.8(IDS):c.1115del (p.Glu372fs)	rs2124005776
NM_000202.8(IDS):c.1122C>T (p.Gly374=)	rs113993948
NM_000202.8(IDS):c.1123G>T (p.Glu375Ter)	rs782634993
NM_000202.8(IDS):c.1165C>T (p.Gln389Ter)
NM_000202.8(IDS):c.1181-1G>A	rs864622777
NM_000202.8(IDS):c.1188del (p.Gln396fs)
NM_000202.8(IDS):c.1216_1217del (p.Leu406fs)	rs2123995091
NM_000202.8(IDS):c.1224dup (p.Thr409fs)	rs2123995054
NM_000202.8(IDS):c.1265G>A (p.Cys422Tyr)	rs886044835
NM_000202.8(IDS):c.1327C>T (p.Arg443Ter)	rs199422227
NM_000202.8(IDS):c.133G>C (p.Asp45His)	rs869025301
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.1402del (p.Arg468fs)	rs2123994397
NM_000202.8(IDS):c.1425G>A (p.Trp475Ter)	rs199422230
NM_000202.8(IDS):c.1445T>G (p.Leu482Ter)
NM_000202.8(IDS):c.1454_1455del (p.Ile485fs)	rs2089305017
NM_000202.8(IDS):c.1470T>A (p.Tyr490Ter)
NM_000202.8(IDS):c.1506G>A (p.Trp502Ter)
NM_000202.8(IDS):c.1508T>A (p.Val503Asp)	rs398123248
NM_000202.8(IDS):c.1561G>A (p.Glu521Lys)	rs2124648301
NM_000202.8(IDS):c.1561dup (p.Glu521fs)	rs2124648304
NM_000202.8(IDS):c.1589dup (p.Leu530fs)	rs2124648266
NM_000202.8(IDS):c.172del (p.Leu58fs)
NM_000202.8(IDS):c.212G>A (p.Ser71Asn)	rs113993954
NM_000202.8(IDS):c.22C>T (p.Arg8Ter)	rs1602750610
NM_000202.8(IDS):c.230C>A (p.Ala77Asp)
NM_000202.8(IDS):c.238C>T (p.Gln80Ter)	rs1569560527
NM_000202.8(IDS):c.239A>G (p.Gln80Arg)
NM_000202.8(IDS):c.240+2T>C
NM_000202.8(IDS):c.241-2A>G
NM_000202.8(IDS):c.253G>A (p.Ala85Thr)	rs113993949
NM_000202.8(IDS):c.257C>G (p.Pro86Arg)	rs1557340280
NM_000202.8(IDS):c.257C>T (p.Pro86Leu)	rs1557340280
NM_000202.8(IDS):c.262C>T (p.Arg88Cys)	rs398123249
NM_000202.8(IDS):c.263G>A (p.Arg88His)	rs2089497431
NM_000202.8(IDS):c.2T>C (p.Met1Thr)	rs2124069617
NM_000202.8(IDS):c.309C>G (p.Tyr103Ter)	rs1174495581
NM_000202.8(IDS):c.30dup (p.Leu11fs)
NM_000202.8(IDS):c.361C>T (p.Gln121Ter)	rs2124063075
NM_000202.8(IDS):c.36G>A (p.Trp12Ter)
NM_000202.8(IDS):c.418+1G>C	rs1602748255
NM_000202.8(IDS):c.419-1G>A	rs1557339927
NM_000202.8(IDS):c.458G>A (p.Trp153Ter)	rs2124055460
NM_000202.8(IDS):c.507+1G>A	rs2124055167
NM_000202.8(IDS):c.508-1G>A	rs113993947
NM_000202.8(IDS):c.514C>T (p.Arg172Ter)	rs104894860
NM_000202.8(IDS):c.551G>T (p.Cys184Phe)
NM_000202.8(IDS):c.594_595del (p.Asp198fs)	rs2124046923
NM_000202.8(IDS):c.596_599del (p.Lys199fs)	rs2089451657
NM_000202.8(IDS):c.653_654del (p.Pro218fs)	rs2089450982
NM_000202.8(IDS):c.686A>G (p.His229Arg)
NM_000202.8(IDS):c.692C>T (p.Pro231Leu)	rs2089450305
NM_000202.8(IDS):c.702C>A (p.Tyr234Ter)	rs1569560489
NM_000202.8(IDS):c.708+1G>A	rs864622778
NM_000202.8(IDS):c.708+1G>T	rs864622778
NM_000202.8(IDS):c.782del (p.Pro261fs)
NM_000202.8(IDS):c.795C>A (p.Asn265Lys)	rs1207417919
NM_000202.8(IDS):c.838_842del (p.Asn280fs)	rs2089436271
NM_000202.8(IDS):c.880-2A>C
NM_000202.8(IDS):c.88_89insAT (p.Ala30fs)	rs1602750400
NM_000202.8(IDS):c.984del (p.Ile329fs)	rs1602734459
NM_000202.8(IDS):c.998C>G (p.Ser333Trp)	rs104894853
NM_000202.8(IDS):c.998C>T (p.Ser333Leu)	rs104894853

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