ClinVar Miner

List of variants in gene combination IDS, LOC106050102 reported as likely benign for Mucopolysaccharidosis, MPS-II

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Gene type:
ClinVar version:
Total variants: 145
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HGVS dbSNP gnomAD frequency
NM_000202.8(IDS):c.641C>T (p.Thr214Met) rs61736892 0.01492
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.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.419-10T>G rs782082376 0.00006
NM_000202.8(IDS):c.753C>T (p.Pro251=) rs782051908 0.00006
NM_000202.8(IDS):c.717G>A (p.Gln239=) rs782087755 0.00005
NM_000202.8(IDS):c.450G>A (p.Pro150=) rs201892132 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.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.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.696C>T (p.Phe232=) rs782498858 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.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.1112C>T (p.Pro371Leu) rs782471629 0.00001
NM_000202.8(IDS):c.1128G>A (p.Lys376=) rs1266043821 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.419-6T>C rs1243973593 0.00001
NM_000202.8(IDS):c.504T>A (p.Thr168=) rs1557339882 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.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.1099A>T (p.Thr367Ser) rs1557338131
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.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.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.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.625T>C (p.Leu209=)
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.693C>T (p.Pro231=) rs2124046263
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.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.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.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.931G>C (p.Val311Leu)
NM_000202.8(IDS):c.934G>A (p.Gly312Ser) rs903259179
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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