ClinVar Miner

List of variants in gene IDS reported as uncertain significance for Mucopolysaccharidosis, MPS-II

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 70
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000202.8(IDS):c.301C>T (p.Arg101Cys) rs782738754 0.00004
NM_000202.8(IDS):c.1261C>T (p.Arg421Cys) rs781825818 0.00002
NM_000202.8(IDS):c.1478G>A (p.Arg493His) rs782347729 0.00002
NM_000202.8(IDS):c.1184G>C (p.Arg395Thr) rs782475200 0.00001
NM_000202.8(IDS):c.1483A>G (p.Ile495Val) rs782228221 0.00001
NM_000202.8(IDS):c.289C>A (p.Pro97Thr) rs1557340273 0.00001
NM_000202.8(IDS):c.352A>T (p.Thr118Ser) rs2089496220 0.00001
NC_000023.10:g.(?_148564257)_(148586687_?)dup
NC_000023.10:g.(?_148564277)_(148564769_?)dup
NC_000023.10:g.(?_148564277)_(148586667_?)dup
NC_000023.10:g.(?_148579628)_(148579848_?)dup
NC_000023.10:g.(?_148582460)_(148586667_?)dup
NM_000202.8(IDS):c.101C>A (p.Thr34Lys)
NM_000202.8(IDS):c.106G>A (p.Ala36Thr)
NM_000202.8(IDS):c.116T>A (p.Val39Asp)
NM_000202.8(IDS):c.1199T>C (p.Leu400Pro)
NM_000202.8(IDS):c.119T>C (p.Leu40Pro)
NM_000202.8(IDS):c.1207C>G (p.Leu403Val)
NM_000202.8(IDS):c.1214C>T (p.Ser405Phe)
NM_000202.8(IDS):c.121_123del (p.Leu41del) rs2124066296
NM_000202.8(IDS):c.124A>G (p.Ile42Val) rs2089505177
NM_000202.8(IDS):c.1253T>C (p.Val418Ala)
NM_000202.8(IDS):c.1255C>A (p.Pro419Thr)
NM_000202.8(IDS):c.1264T>C (p.Cys422Arg) rs199422229
NM_000202.8(IDS):c.1295G>T (p.Cys432Phe)
NM_000202.8(IDS):c.1303G>T (p.Gly435Cys)
NM_000202.8(IDS):c.1327C>G (p.Arg443Gly)
NM_000202.8(IDS):c.1350T>A (p.Asp450Glu) rs2123994624
NM_000202.8(IDS):c.1364G>T (p.Gly455Val)
NM_000202.8(IDS):c.1373G>A (p.Arg458His)
NM_000202.8(IDS):c.1387T>C (p.Tyr463His) rs1365886210
NM_000202.8(IDS):c.1388A>G (p.Tyr463Cys)
NM_000202.8(IDS):c.1400C>T (p.Pro467Leu) rs1602725808
NM_000202.8(IDS):c.1409C>T (p.Ser470Leu)
NM_000202.8(IDS):c.1411G>A (p.Asp471Asn)
NM_000202.8(IDS):c.1417C>T (p.Pro473Ser) rs2123994315
NM_000202.8(IDS):c.142C>T (p.Arg48Cys)
NM_000202.8(IDS):c.1439C>T (p.Pro480Leu) rs2123994251
NM_000202.8(IDS):c.1447A>G (p.Lys483Glu) rs2123994225
NM_000202.8(IDS):c.1466G>C (p.Gly489Ala) rs104894863
NM_000202.8(IDS):c.1472C>A (p.Ser491Tyr)
NM_000202.8(IDS):c.1494del (p.Arg498fs)
NM_000202.8(IDS):c.1498A>G (p.Thr500Ala)
NM_000202.8(IDS):c.1504T>A (p.Trp502Arg)
NM_000202.8(IDS):c.1610A>G (p.Asn537Ser)
NM_000202.8(IDS):c.1621G>T (p.Gly541Cys)
NM_000202.8(IDS):c.1630C>A (p.Leu544Ile)
NM_000202.8(IDS):c.1649C>A (p.Pro550His)
NM_000202.8(IDS):c.1649C>G (p.Pro550Arg)
NM_000202.8(IDS):c.166G>A (p.Asp56Asn)
NM_000202.8(IDS):c.187A>G (p.Asn63Asp) rs193302909
NM_000202.8(IDS):c.200T>C (p.Leu67Pro)
NM_000202.8(IDS):c.214CTC[1] (p.Leu73del)
NM_000202.8(IDS):c.227A>G (p.Asn76Ser)
NM_000202.8(IDS):c.236C>T (p.Ala79Val) rs368513342
NM_000202.8(IDS):c.240+3A>G rs2124065632
NM_000202.8(IDS):c.241-4A>G
NM_000202.8(IDS):c.248T>G (p.Val83Gly) rs1569560525
NM_000202.8(IDS):c.331G>C (p.Val111Leu) rs1602748386
NM_000202.8(IDS):c.337G>A (p.Ala113Thr)
NM_000202.8(IDS):c.346T>G (p.Phe116Val) rs2124063192
NM_000202.8(IDS):c.364T>G (p.Tyr122Asp)
NM_000202.8(IDS):c.380G>A (p.Gly127Asp)
NM_000202.8(IDS):c.383A>C (p.Tyr128Ser) rs2124063021
NM_000202.8(IDS):c.388A>G (p.Thr130Ala)
NM_000202.8(IDS):c.389C>T (p.Thr130Ile) rs1557340233
NM_000202.8(IDS):c.418+34G>T rs1463289439
NM_000202.8(IDS):c.418+4C>G rs782011209
NM_000202.8(IDS):c.418+6_418+7del
NM_000202.8(IDS):c.98C>T (p.Thr33Ile)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.