ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 291
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HGVS dbSNP gnomAD frequency
NM_000202.8(IDS):c.336C>T (p.His112=) rs138687038 0.00073
NM_000202.8(IDS):c.507+6G>T rs370769925 0.00013
NM_000202.8(IDS):c.1006+8T>C rs782781942 0.00008
NM_000202.8(IDS):c.304C>T (p.Leu102=) rs782790524 0.00008
NM_000202.8(IDS):c.929A>G (p.Gln310Arg) rs782210625 0.00008
NM_000202.8(IDS):c.1085A>G (p.Tyr362Cys) rs141037133 0.00007
NM_000202.8(IDS):c.421A>T (p.Ile141Leu) rs781999172 0.00007
NM_000202.8(IDS):c.357C>T (p.Ile119=) rs782362742 0.00006
NM_000202.8(IDS):c.419-10T>G rs782082376 0.00006
NM_000202.8(IDS):c.103+6G>A rs781956472 0.00005
NM_000202.8(IDS):c.1248G>A (p.Leu416=) rs1306764023 0.00005
NM_000202.8(IDS):c.717G>A (p.Gln239=) rs782087755 0.00005
NM_000202.8(IDS):c.104-9C>G rs371864469 0.00004
NM_000202.8(IDS):c.246A>G (p.Ala82=) rs1447255384 0.00004
NM_000202.8(IDS):c.501C>T (p.Asn167=) rs375547801 0.00004
NM_000202.8(IDS):c.576C>T (p.Pro192=) rs1286461259 0.00004
NM_000202.8(IDS):c.760G>A (p.Glu254Lys) rs374066256 0.00004
NM_000202.8(IDS):c.1047C>T (p.Ser349=) rs375836575 0.00003
NM_000202.8(IDS):c.1100C>T (p.Thr367Met) rs782588855 0.00003
NM_000202.8(IDS):c.1270G>A (p.Val424Ile) rs373820890 0.00003
NM_000202.8(IDS):c.1284C>T (p.His428=) rs782163574 0.00003
NM_000202.8(IDS):c.1372C>T (p.Arg458Cys) rs782340858 0.00003
NM_000202.8(IDS):c.309C>T (p.Tyr103=) rs1174495581 0.00003
NM_000202.8(IDS):c.477T>C (p.His159=) rs782649306 0.00003
NM_000202.8(IDS):c.759C>T (p.Pro253=) rs1214276270 0.00003
NM_000202.8(IDS):c.852G>A (p.Pro284=) rs782470007 0.00003
NM_000202.8(IDS):c.982A>G (p.Ile328Val) rs782156020 0.00003
NM_000202.8(IDS):c.1077G>C (p.Leu359=) rs913480314 0.00002
NM_000202.8(IDS):c.147C>T (p.Pro49=) rs1557340415 0.00002
NM_000202.8(IDS):c.1560G>A (p.Gly520=) rs782724941 0.00002
NM_000202.8(IDS):c.1642T>C (p.Leu548=) rs1557337560 0.00002
NM_000202.8(IDS):c.189T>C (p.Asn63=) rs782083523 0.00002
NM_000202.8(IDS):c.240+13A>G rs782621152 0.00002
NM_000202.8(IDS):c.264C>T (p.Arg88=) rs375362189 0.00002
NM_000202.8(IDS):c.508-6T>C rs1352374568 0.00002
NM_000202.8(IDS):c.557T>C (p.Val186Ala) rs782007728 0.00002
NM_000202.8(IDS):c.681G>A (p.Lys227=) rs1557339514 0.00002
NM_000202.8(IDS):c.880-19A>G rs781883143 0.00002
NM_000202.8(IDS):c.918T>C (p.Tyr306=) rs781920980 0.00002
NM_000202.8(IDS):c.955G>A (p.Asp319Asn) rs782549285 0.00002
NM_000202.8(IDS):c.97A>T (p.Thr33Ser) rs782158763 0.00002
NM_000202.8(IDS):c.999G>A (p.Ser333=) rs1483244890 0.00002
NM_000202.8(IDS):c.1007-4C>T rs781947914 0.00001
NM_000202.8(IDS):c.1007-9A>G rs927728129 0.00001
NM_000202.8(IDS):c.103+12G>A rs782156440 0.00001
NM_000202.8(IDS):c.1112C>T (p.Pro371Leu) rs782471629 0.00001
NM_000202.8(IDS):c.1128G>A (p.Lys376=) rs1266043821 0.00001
NM_000202.8(IDS):c.114C>T (p.Asn38=) rs149512799 0.00001
NM_000202.8(IDS):c.1164A>G (p.Ser388=) rs782363616 0.00001
NM_000202.8(IDS):c.1180+10A>G rs1173314448 0.00001
NM_000202.8(IDS):c.1181-19C>G rs1557337665 0.00001
NM_000202.8(IDS):c.1254T>G (p.Val418=) rs1557337653 0.00001
NM_000202.8(IDS):c.1257A>G (p.Pro419=) rs782066597 0.00001
NM_000202.8(IDS):c.1353G>A (p.Pro451=) rs920711197 0.00001
NM_000202.8(IDS):c.1477C>T (p.Arg493Cys) rs782190885 0.00001
NM_000202.8(IDS):c.1536T>A (p.Ala512=) rs782673868 0.00001
NM_000202.8(IDS):c.1623T>G (p.Gly541=) rs1557337565 0.00001
NM_000202.8(IDS):c.18C>T (p.Thr6=) rs369954416 0.00001
NM_000202.8(IDS):c.198A>G (p.Gln66=) rs1557340398 0.00001
NM_000202.8(IDS):c.237G>A (p.Ala79=) rs782183418 0.00001
NM_000202.8(IDS):c.252C>T (p.Cys84=) rs1557340286 0.00001
NM_000202.8(IDS):c.285G>A (p.Arg95=) rs782779732 0.00001
NM_000202.8(IDS):c.34T>C (p.Trp12Arg) rs1557340598 0.00001
NM_000202.8(IDS):c.419-6T>C rs1243973593 0.00001
NM_000202.8(IDS):c.504T>A (p.Thr168=) rs1557339882 0.00001
NM_000202.8(IDS):c.51G>C (p.Leu17=) rs1352041987 0.00001
NM_000202.8(IDS):c.709-5C>T rs970568454 0.00001
NM_000202.8(IDS):c.807C>T (p.Asp269=) rs1557339297 0.00001
NM_000202.8(IDS):c.889C>T (p.Arg297Cys) rs782408729 0.00001
NM_000202.8(IDS):c.906C>G (p.Ala302=) rs1227669625 0.00001
NM_000202.8(IDS):c.933C>T (p.Val311=) rs782608372 0.00001
NM_000202.8(IDS):c.1006+12G>T
NM_000202.8(IDS):c.1006+19C>G
NM_000202.8(IDS):c.1006+19C>T
NM_000202.8(IDS):c.1006+9T>C
NM_000202.8(IDS):c.1007-20C>T rs2124006523
NM_000202.8(IDS):c.103+11C>T
NM_000202.8(IDS):c.103+13C>G
NM_000202.8(IDS):c.103+14C>T
NM_000202.8(IDS):c.103+19C>T
NM_000202.8(IDS):c.103+9C>T
NM_000202.8(IDS):c.104-10T>A
NM_000202.8(IDS):c.104-16C>G
NM_000202.8(IDS):c.104-16C>T
NM_000202.8(IDS):c.104-17C>T
NM_000202.8(IDS):c.104-19G>A
NM_000202.8(IDS):c.104-4G>A rs2124066481
NM_000202.8(IDS):c.1044C>T (p.Tyr348=)
NM_000202.8(IDS):c.1053T>C (p.Phe351=) rs2124006183
NM_000202.8(IDS):c.1065C>T (p.Thr355=)
NM_000202.8(IDS):c.1067A>G (p.His356Arg)
NM_000202.8(IDS):c.1083C>G (p.Phe361Leu)
NM_000202.8(IDS):c.1089T>C (p.Val363=)
NM_000202.8(IDS):c.108T>G (p.Ala36=) rs2089505645
NM_000202.8(IDS):c.1101G>A (p.Thr367=)
NM_000202.8(IDS):c.1113G>T (p.Pro371=) rs146615651
NM_000202.8(IDS):c.1122C>A (p.Gly374=) rs113993948
NM_000202.8(IDS):c.1149T>G (p.Pro383=)
NM_000202.8(IDS):c.1166A>T (p.Gln389Leu)
NM_000202.8(IDS):c.1180+14T>C
NM_000202.8(IDS):c.1180+17A>G
NM_000202.8(IDS):c.1180+20G>A
NM_000202.8(IDS):c.1180+7A>C rs2089340679
NM_000202.8(IDS):c.1188A>G (p.Gln396=) rs2123995158
NM_000202.8(IDS):c.1191C>T (p.Ser397=)
NM_000202.8(IDS):c.1196A>T (p.Asp399Val)
NM_000202.8(IDS):c.1197C>T (p.Asp399=)
NM_000202.8(IDS):c.1203G>A (p.Val401=)
NM_000202.8(IDS):c.1212G>C (p.Val404=) rs2123995105
NM_000202.8(IDS):c.1222C>G (p.Pro408Ala)
NM_000202.8(IDS):c.1222C>T (p.Pro408Ser)
NM_000202.8(IDS):c.1226C>T (p.Thr409Met)
NM_000202.8(IDS):c.1248G>T (p.Leu416=)
NM_000202.8(IDS):c.1275T>A (p.Pro425=)
NM_000202.8(IDS):c.1293G>A (p.Leu431=) rs782203657
NM_000202.8(IDS):c.1297A>G (p.Arg433Gly) rs2089307094
NM_000202.8(IDS):c.129C>T (p.Ile43=) rs2124066238
NM_000202.8(IDS):c.12C>G (p.Pro4=)
NM_000202.8(IDS):c.12C>T (p.Pro4=)
NM_000202.8(IDS):c.1317G>T (p.Leu439=)
NM_000202.8(IDS):c.1333C>T (p.Arg445Cys)
NM_000202.8(IDS):c.1334G>A (p.Arg445His)
NM_000202.8(IDS):c.1335T>C (p.Arg445=)
NM_000202.8(IDS):c.1338C>T (p.Asp446=)
NM_000202.8(IDS):c.1352C>G (p.Pro451Arg)
NM_000202.8(IDS):c.1353G>C (p.Pro451=) rs920711197
NM_000202.8(IDS):c.1371C>G (p.Pro457=)
NM_000202.8(IDS):c.1378C>T (p.Leu460=)
NM_000202.8(IDS):c.1380G>A (p.Leu460=)
NM_000202.8(IDS):c.1389T>C (p.Tyr463=)
NM_000202.8(IDS):c.1395G>A (p.Gln465=) rs2123994427
NM_000202.8(IDS):c.13C>A (p.Arg5=)
NM_000202.8(IDS):c.1416C>T (p.Ile472=) rs2123994324
NM_000202.8(IDS):c.1422G>A (p.Gln474=) rs1569560371
NM_000202.8(IDS):c.1434C>T (p.Asp478=)
NM_000202.8(IDS):c.1440G>A (p.Pro480=)
NM_000202.8(IDS):c.1443T>C (p.Ser481=)
NM_000202.8(IDS):c.1452T>C (p.Asp484=)
NM_000202.8(IDS):c.1479C>T (p.Arg493=)
NM_000202.8(IDS):c.147C>G (p.Pro49=) rs1557340415
NM_000202.8(IDS):c.1482C>T (p.Thr494=) rs2123994147
NM_000202.8(IDS):c.1500T>A (p.Thr500=)
NM_000202.8(IDS):c.1500T>C (p.Thr500=) rs1602725629
NM_000202.8(IDS):c.1503G>C (p.Val501=)
NM_000202.8(IDS):c.151C>T (p.Leu51=) rs1340608360
NM_000202.8(IDS):c.1531C>T (p.Leu511=)
NM_000202.8(IDS):c.1536T>C (p.Ala512=) rs782673868
NM_000202.8(IDS):c.1539C>T (p.Asn513=)
NM_000202.8(IDS):c.1564C>T (p.Leu522=) rs2124648290
NM_000202.8(IDS):c.156C>T (p.Gly52=) rs2089504569
NM_000202.8(IDS):c.1584C>T (p.Asp528=) rs2124648280
NM_000202.8(IDS):c.1587A>G (p.Pro529=)
NM_000202.8(IDS):c.1588T>C (p.Leu530=)
NM_000202.8(IDS):c.15G>A (p.Arg5=) rs2124069552
NM_000202.8(IDS):c.15G>T (p.Arg5=) rs2124069552
NM_000202.8(IDS):c.1608T>C (p.Tyr536=) rs2089303285
NM_000202.8(IDS):c.1617C>T (p.Ser539=) rs782717602
NM_000202.8(IDS):c.1626A>C (p.Gly542=)
NM_000202.8(IDS):c.1629T>C (p.Asp543=)
NM_000202.8(IDS):c.165G>A (p.Gly55=)
NM_000202.8(IDS):c.171G>A (p.Lys57=)
NM_000202.8(IDS):c.172C>T (p.Leu58=)
NM_000202.8(IDS):c.183C>A (p.Ser61=)
NM_000202.8(IDS):c.183C>T (p.Ser61=) rs2124065941
NM_000202.8(IDS):c.18C>G (p.Thr6=)
NM_000202.8(IDS):c.207C>T (p.Ser69=)
NM_000202.8(IDS):c.213C>T (p.Ser71=)
NM_000202.8(IDS):c.222C>T (p.Phe74=)
NM_000202.8(IDS):c.22C>A (p.Arg8=)
NM_000202.8(IDS):c.231C>T (p.Ala77=) rs1602749217
NM_000202.8(IDS):c.240+11del
NM_000202.8(IDS):c.240+12A>G
NM_000202.8(IDS):c.240+14C>T
NM_000202.8(IDS):c.240+20G>A
NM_000202.8(IDS):c.240+7C>T rs2124065624
NM_000202.8(IDS):c.241-14C>G
NM_000202.8(IDS):c.241-16T>C
NM_000202.8(IDS):c.241-5A>G
NM_000202.8(IDS):c.241-6T>G
NM_000202.8(IDS):c.241-7C>T rs2124063828
NM_000202.8(IDS):c.258G>A (p.Pro86=)
NM_000202.8(IDS):c.300C>T (p.Thr100=) rs2124063502
NM_000202.8(IDS):c.306G>A (p.Leu102=)
NM_000202.8(IDS):c.312C>T (p.Asp104=) rs2124063377
NM_000202.8(IDS):c.315C>T (p.Phe105=) rs2124063363
NM_000202.8(IDS):c.31C>T (p.Leu11Phe)
NM_000202.8(IDS):c.333G>T (p.Val111=) rs2124063244
NM_000202.8(IDS):c.33C>T (p.Leu11=)
NM_000202.8(IDS):c.360C>G (p.Pro120=)
NM_000202.8(IDS):c.378T>C (p.Asn126=) rs2124063034
NM_000202.8(IDS):c.37C>T (p.Leu13=)
NM_000202.8(IDS):c.414C>T (p.His138=) rs1602748259
NM_000202.8(IDS):c.418+10C>T
NM_000202.8(IDS):c.418+11A>G
NM_000202.8(IDS):c.418+14T>A
NM_000202.8(IDS):c.418+20G>T
NM_000202.8(IDS):c.418+8T>C
NM_000202.8(IDS):c.418+9C>G
NM_000202.8(IDS):c.419-10T>C
NM_000202.8(IDS):c.419-17C>G
NM_000202.8(IDS):c.419-4del
NM_000202.8(IDS):c.420G>T (p.Gly140=)
NM_000202.8(IDS):c.438C>A (p.Thr146=) rs1141608
NM_000202.8(IDS):c.441T>C (p.Asp147=)
NM_000202.8(IDS):c.448C>T (p.Pro150Ser)
NM_000202.8(IDS):c.450G>T (p.Pro150=) rs201892132
NM_000202.8(IDS):c.465T>C (p.Phe155=) rs149210251
NM_000202.8(IDS):c.474T>C (p.Tyr158=)
NM_000202.8(IDS):c.480T>A (p.Pro160=) rs2124055254
NM_000202.8(IDS):c.483C>T (p.Ser161=) rs2124055212
NM_000202.8(IDS):c.49C>T (p.Leu17=) rs781834400
NM_000202.8(IDS):c.507+14A>G
NM_000202.8(IDS):c.507+17G>C
NM_000202.8(IDS):c.507+17G>T
NM_000202.8(IDS):c.507+20A>G
NM_000202.8(IDS):c.507+20A>T
NM_000202.8(IDS):c.507+7C>T rs1225416290
NM_000202.8(IDS):c.508-15A>G
NM_000202.8(IDS):c.508-19T>A rs2124047400
NM_000202.8(IDS):c.508-19T>C
NM_000202.8(IDS):c.508-20A>G
NM_000202.8(IDS):c.508-20del
NM_000202.8(IDS):c.508-5G>T rs1889382373
NM_000202.8(IDS):c.508-8T>G
NM_000202.8(IDS):c.516A>G (p.Arg172=)
NM_000202.8(IDS):c.517G>A (p.Gly173Arg)
NM_000202.8(IDS):c.522A>G (p.Pro174=) rs2124047235
NM_000202.8(IDS):c.534C>T (p.Leu178=) rs2124047211
NM_000202.8(IDS):c.540C>T (p.Ala180=) rs2089452510
NM_000202.8(IDS):c.546G>A (p.Leu182=)
NM_000202.8(IDS):c.54C>T (p.Ser18=) rs782607292
NM_000202.8(IDS):c.570T>C (p.Asp190=)
NM_000202.8(IDS):c.575C>G (p.Pro192Arg)
NM_000202.8(IDS):c.576C>G (p.Pro192=)
NM_000202.8(IDS):c.578A>G (p.Glu193Gly)
NM_000202.8(IDS):c.57C>G (p.Ser19=)
NM_000202.8(IDS):c.625T>C (p.Leu209=)
NM_000202.8(IDS):c.63C>T (p.Cys21=) rs2124069268
NM_000202.8(IDS):c.642G>A (p.Thr214=) rs1738744298
NM_000202.8(IDS):c.642G>T (p.Thr214=) rs1738744298
NM_000202.8(IDS):c.669T>G (p.Val223=) rs2124046491
NM_000202.8(IDS):c.66C>T (p.Val22=)
NM_000202.8(IDS):c.693C>T (p.Pro231=) rs2124046263
NM_000202.8(IDS):c.69C>G (p.Ala23=) rs1602750461
NM_000202.8(IDS):c.69C>T (p.Ala23=) rs1602750461
NM_000202.8(IDS):c.702C>T (p.Tyr234=)
NM_000202.8(IDS):c.705C>T (p.Pro235=)
NM_000202.8(IDS):c.708+10T>A rs2124046135
NM_000202.8(IDS):c.708+19G>T
NM_000202.8(IDS):c.729C>T (p.Pro243=)
NM_000202.8(IDS):c.72C>T (p.Leu24=) rs781800570
NM_000202.8(IDS):c.738C>T (p.Asn246=)
NM_000202.8(IDS):c.744C>T (p.Thr248=)
NM_000202.8(IDS):c.747G>A (p.Leu249=) rs2124041932
NM_000202.8(IDS):c.750C>G (p.Ala250=)
NM_000202.8(IDS):c.759C>G (p.Pro253=) rs1214276270
NM_000202.8(IDS):c.777A>T (p.Leu259=) rs782773319
NM_000202.8(IDS):c.780C>T (p.Pro260=)
NM_000202.8(IDS):c.783T>C (p.Pro261=)
NM_000202.8(IDS):c.78C>A (p.Ser26=)
NM_000202.8(IDS):c.795C>T (p.Asn265=)
NM_000202.8(IDS):c.813G>A (p.Arg271=)
NM_000202.8(IDS):c.816A>G (p.Gln272=)
NM_000202.8(IDS):c.819G>A (p.Arg273=)
NM_000202.8(IDS):c.826G>A (p.Val276Ile)
NM_000202.8(IDS):c.826G>C (p.Val276Leu) rs200694354
NM_000202.8(IDS):c.834C>T (p.Ala278=) rs2124041303
NM_000202.8(IDS):c.846T>C (p.Ser282=)
NM_000202.8(IDS):c.84G>T (p.Thr28=) rs1194554189
NM_000202.8(IDS):c.858T>G (p.Gly286=)
NM_000202.8(IDS):c.879+10A>G rs2124041048
NM_000202.8(IDS):c.879+11del
NM_000202.8(IDS):c.879+12A>G
NM_000202.8(IDS):c.879+14A>G
NM_000202.8(IDS):c.879+17T>G
NM_000202.8(IDS):c.879+20G>A
NM_000202.8(IDS):c.879+7A>G
NM_000202.8(IDS):c.879+9G>C
NM_000202.8(IDS):c.880-19A>T
NM_000202.8(IDS):c.880-19del
NM_000202.8(IDS):c.880-20T>A
NM_000202.8(IDS):c.880-5del rs1458652265
NM_000202.8(IDS):c.909T>C (p.Ser303=)
NM_000202.8(IDS):c.92A>G (p.Asn31Ser)
NM_000202.8(IDS):c.931G>C (p.Val311Leu)
NM_000202.8(IDS):c.954G>A (p.Leu318=) rs2124020303
NM_000202.8(IDS):c.966G>A (p.Gln322=) rs2124020165
NM_000202.8(IDS):c.967C>T (p.Leu323=) rs2124020149
NM_000202.8(IDS):c.974A>G (p.Asn325Ser)
NM_000202.8(IDS):c.978C>T (p.Ser326=)
NM_000202.8(IDS):c.995C>T (p.Thr332Ile)

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