ClinVar Miner

List of variants in gene IDS, LOC106050102 studied for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 167
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HGVS dbSNP
NC_000023.11:g.(?_149478764)_(149505354_?)del
NM_000202.8(IDS):c.1001A>G (p.Asp334Gly)
NM_000202.8(IDS):c.1003C>T (p.His335Tyr) rs869025302
NM_000202.8(IDS):c.1006+1G>A
NM_000202.8(IDS):c.1006+1G>T rs869025308
NM_000202.8(IDS):c.1006+2T>G
NM_000202.8(IDS):c.1006+8T>C rs782781942
NM_000202.8(IDS):c.1006G>T (p.Gly336Trp) rs1557338581
NM_000202.8(IDS):c.1007-4C>T
NM_000202.8(IDS):c.1007-9A>G
NM_000202.8(IDS):c.1016T>C (p.Leu339Pro) rs864622771
NM_000202.8(IDS):c.1024C>T (p.His342Tyr)
NM_000202.8(IDS):c.1025A>C (p.His342Pro) rs869025303
NM_000202.8(IDS):c.1028G>A (p.Gly343Glu)
NM_000202.8(IDS):c.1033T>A (p.Trp345Arg) rs193302906
NM_000202.8(IDS):c.1034G>C (p.Trp345Ser)
NM_000202.8(IDS):c.1040A>G (p.Lys347Arg)
NM_000202.8(IDS):c.1044C>G (p.Tyr348Ter) rs1569560392
NM_000202.8(IDS):c.1047C>A (p.Ser349Arg)
NM_000202.8(IDS):c.1047C>T (p.Ser349=)
NM_000202.8(IDS):c.1074C>G (p.Pro358=) rs61736891
NM_000202.8(IDS):c.1085A>G (p.Tyr362Cys)
NM_000202.8(IDS):c.1099A>T (p.Thr367Ser) rs1557338131
NM_000202.8(IDS):c.1100C>T (p.Thr367Met)
NM_000202.8(IDS):c.1106C>A (p.Ser369Ter) rs1557338127
NM_000202.8(IDS):c.1112C>T (p.Pro371Leu) rs782471629
NM_000202.8(IDS):c.1113G>A (p.Pro371=)
NM_000202.8(IDS):c.1113G>T (p.Pro371=) rs146615651
NM_000202.8(IDS):c.1115del (p.Glu372fs)
NM_000202.8(IDS):c.1122C>A (p.Gly374=)
NM_000202.8(IDS):c.1122C>T (p.Gly374=) rs113993948
NM_000202.8(IDS):c.1123G>A (p.Glu375Lys)
NM_000202.8(IDS):c.1129del (p.Leu377fs)
NM_000202.8(IDS):c.1132_1133del (p.Phe378fs) rs869025306
NM_000202.8(IDS):c.1142T>G (p.Leu381Arg) rs1602730439
NM_000202.8(IDS):c.1143C>T (p.Leu381=) rs781805300
NM_000202.8(IDS):c.1144G>C (p.Asp382His) rs370125505
NM_000202.8(IDS):c.1150_1151insAAAGGGTCGCA (p.Phe384Ter)
NM_000202.8(IDS):c.1158C>T (p.Ser386=)
NM_000202.8(IDS):c.1159G>A (p.Ala387Thr) rs376725292
NM_000202.8(IDS):c.1164A>G (p.Ser388=)
NM_000202.8(IDS):c.1180+7A>C
NM_000202.8(IDS):c.419-10T>G rs782082376
NM_000202.8(IDS):c.419-16dup rs781852261
NM_000202.8(IDS):c.419-1G>A rs1557339927
NM_000202.8(IDS):c.419-2A>G
NM_000202.8(IDS):c.419-6T>C
NM_000202.8(IDS):c.419-6del rs781852261
NM_000202.8(IDS):c.425C>A (p.Ser142Tyr) rs193302908
NM_000202.8(IDS):c.438C>A (p.Thr146=)
NM_000202.8(IDS):c.438C>T (p.Thr146=) rs1141608
NM_000202.8(IDS):c.442G>T (p.Asp148Tyr) rs1602745838
NM_000202.8(IDS):c.445T>G (p.Ser149Ala) rs146846763
NM_000202.8(IDS):c.449C>T (p.Pro150Leu)
NM_000202.8(IDS):c.450G>A (p.Pro150=) rs201892132
NM_000202.8(IDS):c.450G>T (p.Pro150=)
NM_000202.8(IDS):c.458G>A (p.Trp153Ter)
NM_000202.8(IDS):c.463_464delinsCCGTATAGCTGG (p.Phe155fs) rs869025304
NM_000202.8(IDS):c.465T>A (p.Phe155Leu) rs149210251
NM_000202.8(IDS):c.465T>C (p.Phe155=)
NM_000202.8(IDS):c.467C>A (p.Pro156Gln) rs145231211
NM_000202.8(IDS):c.469C>T (p.Pro157Ser) rs864622774
NM_000202.8(IDS):c.473ATC[1] (p.His159del) rs1557339887
NM_000202.8(IDS):c.477T>C (p.His159=)
NM_000202.8(IDS):c.479C>G (p.Pro160Arg) rs104894856
NM_000202.8(IDS):c.480T>A (p.Pro160=)
NM_000202.8(IDS):c.504T>A (p.Thr168=)
NM_000202.8(IDS):c.507+1G>A
NM_000202.8(IDS):c.507+6G>T rs370769925
NM_000202.8(IDS):c.507+7C>T
NM_000202.8(IDS):c.508-1G>A rs113993947
NM_000202.8(IDS):c.508-1G>C rs113993947
NM_000202.8(IDS):c.508-5G>T
NM_000202.8(IDS):c.509_510del (p.Thr170fs) rs483352904
NM_000202.8(IDS):c.512G>A (p.Cys171Tyr)
NM_000202.8(IDS):c.514C>T (p.Arg172Ter) rs104894860
NM_000202.8(IDS):c.525T>A (p.Asp175Glu)
NM_000202.8(IDS):c.534C>T (p.Leu178=)
NM_000202.8(IDS):c.540C>T (p.Ala180=)
NM_000202.8(IDS):c.576C>T (p.Pro192=)
NM_000202.8(IDS):c.589_592del (p.Pro197fs) rs1602742854
NM_000202.8(IDS):c.590C>T (p.Pro197Leu)
NM_000202.8(IDS):c.592G>A (p.Asp198Asn) rs193302904
NM_000202.8(IDS):c.594_595del (p.Asp198fs)
NM_000202.8(IDS):c.596_599del (p.Lys199fs)
NM_000202.8(IDS):c.608A>T (p.Glu203Val)
NM_000202.8(IDS):c.610C>T (p.Gln204Ter)
NM_000202.8(IDS):c.613G>A (p.Ala205Thr) rs864622779
NM_000202.8(IDS):c.613G>C (p.Ala205Pro) rs864622779
NM_000202.8(IDS):c.613del (p.Ala205fs)
NM_000202.8(IDS):c.622TTG[1] (p.Leu209del)
NM_000202.8(IDS):c.641C>T (p.Thr214Met) rs61736892
NM_000202.8(IDS):c.642G>A (p.Thr214=)
NM_000202.8(IDS):c.653_654del (p.Pro218fs)
NM_000202.8(IDS):c.666C>T (p.Ala222=) rs201588028
NM_000202.8(IDS):c.667G>A (p.Val223Ile) rs200784263
NM_000202.8(IDS):c.669T>G (p.Val223=)
NM_000202.8(IDS):c.670G>A (p.Gly224Arg)
NM_000202.8(IDS):c.683C>A (p.Pro228Gln) rs113993945
NM_000202.8(IDS):c.683C>T (p.Pro228Leu)
NM_000202.8(IDS):c.684A>G (p.Pro228=) rs782561677
NM_000202.8(IDS):c.687del (p.His229fs)
NM_000202.8(IDS):c.692C>G (p.Pro231Arg)
NM_000202.8(IDS):c.692C>T (p.Pro231Leu)
NM_000202.8(IDS):c.693C>T (p.Pro231=)
NM_000202.8(IDS):c.696C>T (p.Phe232=) rs782498858
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
NM_000202.8(IDS):c.708G>A (p.Lys236=) rs1602742620
NM_000202.8(IDS):c.709-1G>A
NM_000202.8(IDS):c.715_721del (p.Gln239fs)
NM_000202.8(IDS):c.717G>A (p.Gln239=)
NM_000202.8(IDS):c.727C>T (p.Pro243Ser) rs143474305
NM_000202.8(IDS):c.737del (p.Asn246fs)
NM_000202.8(IDS):c.753C>T (p.Pro251=) rs782051908
NM_000202.8(IDS):c.754G>A (p.Asp252Asn) rs146458524
NM_000202.8(IDS):c.754_767del (p.Pro251_Asp252insTer) rs869025305
NM_000202.8(IDS):c.759C>G (p.Pro253=)
NM_000202.8(IDS):c.760G>A (p.Glu254Lys) rs374066256
NM_000202.8(IDS):c.776_777dup (p.Pro260fs)
NM_000202.8(IDS):c.777A>T (p.Leu259=) rs782773319
NM_000202.8(IDS):c.781C>A (p.Pro261Thr)
NM_000202.8(IDS):c.781C>G (p.Pro261Ala) rs141720810
NM_000202.8(IDS):c.781C>T (p.Pro261Ser)
NM_000202.8(IDS):c.786_787delinsC (p.Ala263fs)
NM_000202.8(IDS):c.800_801del (p.Trp267fs)
NM_000202.8(IDS):c.801G>T (p.Trp267Cys)
NM_000202.8(IDS):c.801dup (p.Met268fs)
NM_000202.8(IDS):c.806A>T (p.Asp269Val) rs1085308006
NM_000202.8(IDS):c.807C>T (p.Asp269=)
NM_000202.8(IDS):c.811A>T (p.Arg271Trp) rs1602740912
NM_000202.8(IDS):c.814C>T (p.Gln272Ter)
NM_000202.8(IDS):c.820G>T (p.Glu274Ter) rs193302907
NM_000202.8(IDS):c.825C>T (p.Asp275=) rs148038243
NM_000202.8(IDS):c.826G>C (p.Val276Leu)
NM_000202.8(IDS):c.829C>T (p.Gln277Ter)
NM_000202.8(IDS):c.838_842del (p.Asn280fs)
NM_000202.8(IDS):c.849G>C (p.Val283=) rs147374356
NM_000202.8(IDS):c.851C>T (p.Pro284Leu) rs782286857
NM_000202.8(IDS):c.852G>A (p.Pro284=)
NM_000202.8(IDS):c.868G>A (p.Val290Met)
NM_000202.8(IDS):c.878A>G (p.Gln293Arg)
NM_000202.8(IDS):c.879+10A>G
NM_000202.8(IDS):c.880-5del
NM_000202.8(IDS):c.881G>A (p.Arg294Gln) rs782445506
NM_000202.8(IDS):c.884A>G (p.Lys295Arg) rs113993953
NM_000202.8(IDS):c.884A>T (p.Lys295Ile) rs113993953
NM_000202.8(IDS):c.889C>T (p.Arg297Cys)
NM_000202.8(IDS):c.894G>A (p.Gln298=)
NM_000202.8(IDS):c.898T>G (p.Tyr300Asp)
NM_000202.8(IDS):c.899_900del (p.Tyr300fs)
NM_000202.8(IDS):c.908_909del (p.Ser303fs) rs193302913
NM_000202.8(IDS):c.918T>C (p.Tyr306=)
NM_000202.8(IDS):c.922G>C (p.Asp308His)
NM_000202.8(IDS):c.925A>G (p.Thr309Ala) rs145807417
NM_000202.8(IDS):c.929A>G (p.Gln310Arg)
NM_000202.8(IDS):c.933C>T (p.Val311=)
NM_000202.8(IDS):c.935G>A (p.Gly312Asp) rs193302912
NM_000202.8(IDS):c.937C>T (p.Arg313Cys) rs201048643
NM_000202.8(IDS):c.955G>A (p.Asp319Asn)
NM_000202.8(IDS):c.957C>A (p.Asp319Glu)
NM_000202.8(IDS):c.957C>T (p.Asp319=) rs782488487
NM_000202.8(IDS):c.982A>G (p.Ile328Val)
NM_000202.8(IDS):c.984del (p.Ile329fs) rs1602734459
NM_000202.8(IDS):c.998C>A (p.Ser333Ter)
NM_000202.8(IDS):c.998C>T (p.Ser333Leu) rs104894853

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