ClinVar Miner

List of variants in gene GCDH reported as likely benign for amino acid metabolism disease

Included ClinVar conditions (409):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 276
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000159.4(GCDH):c.1085C>A (p.Ala362Asp) rs114759170 0.00453
NM_000159.4(GCDH):c.271+3G>A rs75430014 0.00167
NM_000159.4(GCDH):c.1143C>T (p.Ile381=) rs142553521 0.00128
NM_000159.4(GCDH):c.636-38G>A rs138216703 0.00108
NM_000159.4(GCDH):c.1011A>G (p.Ala337=) rs2229460 0.00093
NM_000159.4(GCDH):c.471C>T (p.Ser157=) rs146682905 0.00081
NM_000159.4(GCDH):c.636-18C>T rs183109666 0.00038
NM_000159.4(GCDH):c.531C>T (p.Phe177=) rs144013229 0.00037
NM_000159.4(GCDH):c.1044C>T (p.His348=) rs140134376 0.00032
NM_000159.4(GCDH):c.417G>A (p.Ser139=) rs201583578 0.00024
NM_000159.4(GCDH):c.627C>T (p.Thr209=) rs143172809 0.00016
NM_000159.4(GCDH):c.735C>T (p.Leu245=) rs372678445 0.00015
NM_000159.4(GCDH):c.894G>A (p.Ala298=) rs150834108 0.00012
NM_000159.4(GCDH):c.552C>T (p.Ser184=) rs144887422 0.00011
NM_000159.4(GCDH):c.886G>A (p.Gly296Ser) rs539505767 0.00009
NM_000159.4(GCDH):c.801C>T (p.Asp267=) rs141293881 0.00008
NM_000159.4(GCDH):c.915G>A (p.Ser305=) rs375120734 0.00008
NM_000159.4(GCDH):c.861C>T (p.Phe287=) rs200757991 0.00007
NM_000159.4(GCDH):c.506-8G>T rs376016112 0.00006
NM_000159.4(GCDH):c.636-24C>G rs762538155 0.00006
NM_000159.4(GCDH):c.885C>T (p.Tyr295=) rs139192015 0.00006
NM_000159.4(GCDH):c.1092C>T (p.Pro364=) rs146363703 0.00005
NM_000159.4(GCDH):c.335-14C>T rs781650833 0.00005
NM_000159.4(GCDH):c.1188C>T (p.Asp396=) rs779968566 0.00004
NM_000159.4(GCDH):c.285G>A (p.Glu95=) rs772071645 0.00004
NM_000159.4(GCDH):c.945C>T (p.Tyr315=) rs138133019 0.00004
NM_000159.4(GCDH):c.976C>T (p.Leu326=) rs907822395 0.00004
NM_000159.4(GCDH):c.396G>T (p.Arg132=) rs1160521098 0.00003
NM_000159.4(GCDH):c.636-26C>T rs772762469 0.00003
NM_000159.4(GCDH):c.876C>T (p.Asn292=) rs1438245420 0.00003
NM_000159.4(GCDH):c.891C>T (p.Ile297=) rs143102910 0.00003
NM_000159.4(GCDH):c.1059C>T (p.Leu353=) rs758606844 0.00002
NM_000159.4(GCDH):c.1083-10C>T rs756372984 0.00002
NM_000159.4(GCDH):c.1122C>T (p.Asn374=) rs771733977 0.00002
NM_000159.4(GCDH):c.1149C>T (p.Arg383=) rs1458766426 0.00002
NM_000159.4(GCDH):c.1209C>T (p.His403=) rs747746632 0.00002
NM_000159.4(GCDH):c.1227C>T (p.Ala409=) rs368251933 0.00002
NM_000159.4(GCDH):c.357G>A (p.Ser119=) rs150674535 0.00002
NM_000159.4(GCDH):c.420G>T (p.Ala140=) rs1408565185 0.00002
NM_000159.4(GCDH):c.441C>T (p.Leu147=) rs931207617 0.00002
NM_000159.4(GCDH):c.774C>G (p.Ala258=) rs1305712372 0.00002
NM_000159.4(GCDH):c.1014C>T (p.Asp338=) rs1400225199 0.00001
NM_000159.4(GCDH):c.1051C>T (p.Leu351=) rs1306667649 0.00001
NM_000159.4(GCDH):c.1077G>A (p.Gln359=) rs947840778 0.00001
NM_000159.4(GCDH):c.1082+8C>T rs199627852 0.00001
NM_000159.4(GCDH):c.1108C>T (p.Leu370=) rs747792184 0.00001
NM_000159.4(GCDH):c.1114A>C (p.Arg372=) rs771924230 0.00001
NM_000159.4(GCDH):c.1131A>G (p.Lys377=) rs139241235 0.00001
NM_000159.4(GCDH):c.1140C>T (p.Asp380=) rs760363668 0.00001
NM_000159.4(GCDH):c.1236C>T (p.Thr412=) rs767895203 0.00001
NM_000159.4(GCDH):c.1239C>T (p.Tyr413=) rs776082304 0.00001
NM_000159.4(GCDH):c.294G>A (p.Ser98=) rs774554314 0.00001
NM_000159.4(GCDH):c.334+15C>T rs200188623 0.00001
NM_000159.4(GCDH):c.334+7A>G rs1970575048 0.00001
NM_000159.4(GCDH):c.435C>T (p.Ser145=) rs1239198957 0.00001
NM_000159.4(GCDH):c.489G>A (p.Lys163=) rs1198939173 0.00001
NM_000159.4(GCDH):c.505+13C>G rs780526140 0.00001
NM_000159.4(GCDH):c.505+20G>T rs1057522095 0.00001
NM_000159.4(GCDH):c.506-10G>A rs753347860 0.00001
NM_000159.4(GCDH):c.506-4G>A rs1367182882 0.00001
NM_000159.4(GCDH):c.612C>T (p.Tyr204=) rs777957599 0.00001
NM_000159.4(GCDH):c.635+20G>A rs1351975861 0.00001
NM_000159.4(GCDH):c.657C>T (p.Ala219=) rs757621195 0.00001
NM_000159.4(GCDH):c.709C>T (p.Leu237=) rs1237461659 0.00001
NM_000159.4(GCDH):c.711G>A (p.Leu237=) rs1970676956 0.00001
NM_000159.4(GCDH):c.768G>A (p.Leu256=) rs1970679799 0.00001
NM_000159.4(GCDH):c.826G>T (p.Val276Leu) rs763300541 0.00001
NM_000159.4(GCDH):c.837T>C (p.Gly279=) rs767543724 0.00001
NM_000159.4(GCDH):c.849G>C (p.Leu283=) rs777665473 0.00001
NM_000159.4(GCDH):c.912T>C (p.Ala304=) rs780703352 0.00001
NM_000159.4(GCDH):c.948C>T (p.Ala316=) rs772743499 0.00001
NM_000159.4(GCDH):c.951C>T (p.Leu317=) rs886450662 0.00001
NM_000159.4(GCDH):c.957-8C>T rs776644984 0.00001
NM_000159.4(GCDH):c.972C>T (p.Val324=) rs149646305 0.00001
NM_000159.4(GCDH):c.1002G>A (p.Lys334=)
NM_000159.4(GCDH):c.1006C>T (p.Leu336=)
NM_000159.4(GCDH):c.1008G>A (p.Leu336=)
NM_000159.4(GCDH):c.1011A>C (p.Ala337=)
NM_000159.4(GCDH):c.1020C>T (p.Leu340=)
NM_000159.4(GCDH):c.1038C>A (p.Gly346=) rs1970709021
NM_000159.4(GCDH):c.1038C>T (p.Gly346=) rs1970709021
NM_000159.4(GCDH):c.1047C>T (p.Ala349=)
NM_000159.4(GCDH):c.1056G>A (p.Gln352=)
NM_000159.4(GCDH):c.1065C>A (p.Arg355=) rs112816231
NM_000159.4(GCDH):c.1068G>A (p.Leu356=)
NM_000159.4(GCDH):c.1080C>T (p.Asp360=) rs1970710700
NM_000159.4(GCDH):c.1082+10G>A rs2145954156
NM_000159.4(GCDH):c.1082+12G>A
NM_000159.4(GCDH):c.1082+14G>T
NM_000159.4(GCDH):c.1082+20G>C
NM_000159.4(GCDH):c.1082+7G>A rs1970710999
NM_000159.4(GCDH):c.1083-11G>A
NM_000159.4(GCDH):c.1083-14T>C
NM_000159.4(GCDH):c.1083-18C>G
NM_000159.4(GCDH):c.1083-19C>T
NM_000159.4(GCDH):c.1083-7C>T
NM_000159.4(GCDH):c.1083-8A>T rs2145954753
NM_000159.4(GCDH):c.1083-9C>T rs778065536
NM_000159.4(GCDH):c.1107G>A (p.Leu369=) rs2145954839
NM_000159.4(GCDH):c.1113G>A (p.Lys371=) rs2145954850
NM_000159.4(GCDH):c.1128G>A (p.Gly376=)
NM_000159.4(GCDH):c.1135C>T (p.Leu379=)
NM_000159.4(GCDH):c.1137G>A (p.Leu379=) rs1970719706
NM_000159.4(GCDH):c.1165C>T (p.Leu389=)
NM_000159.4(GCDH):c.1167G>A (p.Leu389=) rs398123191
NM_000159.4(GCDH):c.1167G>C (p.Leu389=)
NM_000159.4(GCDH):c.1167G>T (p.Leu389=)
NM_000159.4(GCDH):c.1179G>A (p.Gly393=)
NM_000159.4(GCDH):c.1194T>C (p.Tyr398=)
NM_000159.4(GCDH):c.1200G>T (p.Val400=)
NM_000159.4(GCDH):c.1203C>T (p.Ile401=)
NM_000159.4(GCDH):c.1212C>T (p.Ala404=)
NM_000159.4(GCDH):c.1218C>T (p.Asn406=)
NM_000159.4(GCDH):c.1227C>A (p.Ala409=)
NM_000159.4(GCDH):c.1236C>A (p.Thr412=)
NM_000159.4(GCDH):c.1243+11G>A rs1356042526
NM_000159.4(GCDH):c.1243+13C>T
NM_000159.4(GCDH):c.1243+17A>G
NM_000159.4(GCDH):c.1243+19A>G
NM_000159.4(GCDH):c.1243+20G>A
NM_000159.4(GCDH):c.1243+9T>G
NM_000159.4(GCDH):c.246C>A (p.Arg82=) rs1466044796
NM_000159.4(GCDH):c.249C>T (p.Ile83=) rs1013749296
NM_000159.4(GCDH):c.250C>T (p.Leu84=) rs2145940216
NM_000159.4(GCDH):c.252G>A (p.Leu84=)
NM_000159.4(GCDH):c.271+11T>G
NM_000159.4(GCDH):c.271+16G>T
NM_000159.4(GCDH):c.271+8G>A rs2145940277
NM_000159.4(GCDH):c.272-13G>T
NM_000159.4(GCDH):c.272-15C>T
NM_000159.4(GCDH):c.272-17C>T
NM_000159.4(GCDH):c.272-20G>C
NM_000159.4(GCDH):c.272-20G>T
NM_000159.4(GCDH):c.272-9C>T
NM_000159.4(GCDH):c.276T>C (p.Phe92=)
NM_000159.4(GCDH):c.279T>C (p.His93=)
NM_000159.4(GCDH):c.288C>T (p.Ile96=) rs868023396
NM_000159.4(GCDH):c.291T>C (p.Ile97=) rs766788256
NM_000159.4(GCDH):c.297G>A (p.Glu99=) rs2145940675
NM_000159.4(GCDH):c.316C>T (p.Leu106=)
NM_000159.4(GCDH):c.327C>G (p.Thr109=) rs2145940768
NM_000159.4(GCDH):c.330C>A (p.Ile110=) rs745618765
NM_000159.4(GCDH):c.330C>T (p.Ile110=) rs745618765
NM_000159.4(GCDH):c.334+12T>C
NM_000159.4(GCDH):c.334+14T>C
NM_000159.4(GCDH):c.334+17C>G
NM_000159.4(GCDH):c.334+20C>T
NM_000159.4(GCDH):c.334+8C>A
NM_000159.4(GCDH):c.334+8C>T
NM_000159.4(GCDH):c.335-10C>T
NM_000159.4(GCDH):c.335-13C>T
NM_000159.4(GCDH):c.335-18C>T
NM_000159.4(GCDH):c.335-5A>C
NM_000159.4(GCDH):c.335-6del
NM_000159.4(GCDH):c.335-7C>T rs1276560235
NM_000159.4(GCDH):c.339T>C (p.Tyr113=)
NM_000159.4(GCDH):c.342C>T (p.Gly114=) rs933742715
NM_000159.4(GCDH):c.348T>G (p.Ala116=)
NM_000159.4(GCDH):c.351G>A (p.Gly117=) rs765292190
NM_000159.4(GCDH):c.363G>A (p.Val121=)
NM_000159.4(GCDH):c.366C>T (p.Ala122=) rs751364711
NM_000159.4(GCDH):c.372G>A (p.Gly124=)
NM_000159.4(GCDH):c.372G>C (p.Gly124=)
NM_000159.4(GCDH):c.375C>T (p.Leu125=) rs1262773034
NM_000159.4(GCDH):c.378G>C (p.Leu126=) rs1599610282
NM_000159.4(GCDH):c.381C>G (p.Ala127=)
NM_000159.4(GCDH):c.381C>T (p.Ala127=)
NM_000159.4(GCDH):c.384A>G (p.Arg128=) rs2145944138
NM_000159.4(GCDH):c.396G>A (p.Arg132=)
NM_000159.4(GCDH):c.402C>T (p.Asp134=) rs2145944193
NM_000159.4(GCDH):c.408C>T (p.Gly136=)
NM_000159.4(GCDH):c.417G>T (p.Ser139=)
NM_000159.4(GCDH):c.420G>A (p.Ala140=) rs1408565185
NM_000159.4(GCDH):c.429C>G (p.Val143=)
NM_000159.4(GCDH):c.429C>T (p.Val143=)
NM_000159.4(GCDH):c.438C>T (p.Ser146=) rs1970606310
NM_000159.4(GCDH):c.444C>T (p.Val148=)
NM_000159.4(GCDH):c.459T>C (p.Tyr153=)
NM_000159.4(GCDH):c.465T>C (p.Tyr155=) rs2145944531
NM_000159.4(GCDH):c.483G>A (p.Arg161=)
NM_000159.4(GCDH):c.486G>A (p.Gln162=) rs2145944634
NM_000159.4(GCDH):c.495G>A (p.Leu165=) rs1475804794
NM_000159.4(GCDH):c.495G>T (p.Leu165=) rs1475804794
NM_000159.4(GCDH):c.505+11G>T
NM_000159.4(GCDH):c.505+12C>T
NM_000159.4(GCDH):c.505+12_505+71del rs2145944782
NM_000159.4(GCDH):c.505+14C>T
NM_000159.4(GCDH):c.505+15A>G
NM_000159.4(GCDH):c.505+19G>A
NM_000159.4(GCDH):c.505+7G>A rs2145944779
NM_000159.4(GCDH):c.506-13C>A
NM_000159.4(GCDH):c.506-13C>G
NM_000159.4(GCDH):c.506-13C>T
NM_000159.4(GCDH):c.506-14T>C
NM_000159.4(GCDH):c.506-16T>C
NM_000159.4(GCDH):c.506-18T>A
NM_000159.4(GCDH):c.506-19C>T
NM_000159.4(GCDH):c.506-7C>T
NM_000159.4(GCDH):c.506-8G>A rs376016112
NM_000159.4(GCDH):c.510G>A (p.Lys170=) rs200785120
NM_000159.4(GCDH):c.525C>G (p.Gly175=)
NM_000159.4(GCDH):c.528C>T (p.Cys176=) rs756345321
NM_000159.4(GCDH):c.540A>G (p.Thr180=) rs2145950187
NM_000159.4(GCDH):c.543G>A (p.Glu181=)
NM_000159.4(GCDH):c.555A>C (p.Gly185=)
NM_000159.4(GCDH):c.570C>T (p.Ser190=)
NM_000159.4(GCDH):c.579C>T (p.Thr193=) rs1338648863
NM_000159.4(GCDH):c.591C>T (p.Tyr197=) rs755546081
NM_000159.4(GCDH):c.597A>G (p.Ser199=)
NM_000159.4(GCDH):c.609C>T (p.Ser203=)
NM_000159.4(GCDH):c.624G>A (p.Gly208=)
NM_000159.4(GCDH):c.627C>A (p.Thr209=) rs143172809
NM_000159.4(GCDH):c.633C>A (p.Thr211=) rs2145950612
NM_000159.4(GCDH):c.635+10C>A rs1599614516
NM_000159.4(GCDH):c.635+12G>A
NM_000159.4(GCDH):c.635+19G>A
NM_000159.4(GCDH):c.635+7G>A rs2145950631
NM_000159.4(GCDH):c.636-16A>G
NM_000159.4(GCDH):c.636-17G>A
NM_000159.4(GCDH):c.636-17G>C
NM_000159.4(GCDH):c.636-4C>T
NM_000159.4(GCDH):c.636-6C>A
NM_000159.4(GCDH):c.636-7T>A
NM_000159.4(GCDH):c.636-7T>C
NM_000159.4(GCDH):c.636-9del rs771335099
NM_000159.4(GCDH):c.648G>A (p.Ser216=) rs2145950883
NM_000159.4(GCDH):c.681G>A (p.Arg227=)
NM_000159.4(GCDH):c.681G>C (p.Arg227=)
NM_000159.4(GCDH):c.693C>G (p.Gly231=) rs1970676135
NM_000159.4(GCDH):c.714G>A (p.Leu238=)
NM_000159.4(GCDH):c.729G>C (p.Arg243=) rs2145951167
NM_000159.4(GCDH):c.732T>C (p.Gly244=) rs1599614979
NM_000159.4(GCDH):c.735C>A (p.Leu245=) rs372678445
NM_000159.4(GCDH):c.741C>T (p.Ala247=) rs2145951229
NM_000159.4(GCDH):c.765G>A (p.Ser255=) rs1193455540
NM_000159.4(GCDH):c.765G>T (p.Ser255=)
NM_000159.4(GCDH):c.786C>A (p.Gly262=) rs1599615180
NM_000159.4(GCDH):c.810G>A (p.Glu270=) rs2145951500
NM_000159.4(GCDH):c.813G>T (p.Val271=) rs2145951510
NM_000159.4(GCDH):c.831C>T (p.Leu277=) rs1355435798
NM_000159.4(GCDH):c.834T>C (p.Pro278=) rs2145951607
NM_000159.4(GCDH):c.840A>C (p.Ala280=) rs2145951627
NM_000159.4(GCDH):c.852+15C>G
NM_000159.4(GCDH):c.852+18T>A
NM_000159.4(GCDH):c.853-11C>T
NM_000159.4(GCDH):c.853-15A>C
NM_000159.4(GCDH):c.853-18G>A
NM_000159.4(GCDH):c.853-19C>T
NM_000159.4(GCDH):c.853-20G>T
NM_000159.4(GCDH):c.853-4A>G
NM_000159.4(GCDH):c.858C>T (p.Pro286=)
NM_000159.4(GCDH):c.864C>T (p.Gly288=)
NM_000159.4(GCDH):c.870G>A (p.Leu290=) rs2145952706
NM_000159.4(GCDH):c.873C>T (p.Asn291=)
NM_000159.4(GCDH):c.879C>G (p.Ala293=)
NM_000159.4(GCDH):c.879C>T (p.Ala293=)
NM_000159.4(GCDH):c.882G>A (p.Arg294=) rs2145952773
NM_000159.4(GCDH):c.894G>C (p.Ala298=) rs150834108
NM_000159.4(GCDH):c.900C>T (p.Gly300=)
NM_000159.4(GCDH):c.903G>A (p.Val301=) rs2145952871
NM_000159.4(GCDH):c.930C>T (p.His310=) rs2145952978
NM_000159.4(GCDH):c.942G>A (p.Gln314=) rs2145953021
NM_000159.4(GCDH):c.956+11G>A
NM_000159.4(GCDH):c.956+14G>A
NM_000159.4(GCDH):c.956+17G>A rs765218612
NM_000159.4(GCDH):c.956+18T>C
NM_000159.4(GCDH):c.957-16G>A
NM_000159.4(GCDH):c.957-20C>A
NM_000159.4(GCDH):c.957-20C>T
NM_000159.4(GCDH):c.957-6A>C rs748270195
NM_000159.4(GCDH):c.957-6A>T rs748270195
NM_000159.4(GCDH):c.957-7C>T rs2145953733
NM_000159.4(GCDH):c.966T>C (p.Phe322=) rs1436984668
NM_000159.4(GCDH):c.972C>A (p.Val324=)
NM_000159.4(GCDH):c.993G>A (p.Leu331=) rs1477463597
NM_000159.4(GCDH):c.993G>C (p.Leu331=) rs1477463597

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