ClinVar Miner

List of variants in gene DLD reported as likely benign for carbohydrate metabolism disease

Included ClinVar conditions (324):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 308
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000108.5(DLD):c.1422A>C (p.Gly474=) rs34453495 0.00881
NM_000108.5(DLD):c.34G>A (p.Ala12Thr) rs75077312 0.00623
NM_000108.5(DLD):c.*887T>C rs16872396 0.00525
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952 0.00461
NM_000108.5(DLD):c.*474T>C rs16872391 0.00443
NM_000108.5(DLD):c.507C>T (p.Gly169=) rs144351432 0.00224
NM_000108.5(DLD):c.*1640A>G rs148148357 0.00209
NM_000108.5(DLD):c.826A>T (p.Thr276Ser) rs148873419 0.00163
NM_000108.5(DLD):c.583-3C>T rs186031819 0.00088
NM_000108.5(DLD):c.788G>A (p.Arg263His) rs145670503 0.00080
NM_000108.5(DLD):c.911T>C (p.Ile304Thr) rs150944645 0.00057
NM_000108.5(DLD):c.100A>G (p.Thr34Ala) rs138002793 0.00046
NM_000108.5(DLD):c.55C>G (p.Arg19Gly) rs144038427 0.00039
NM_000108.5(DLD):c.763A>C (p.Met255Leu) rs533405046 0.00029
NM_000108.5(DLD):c.*1736T>C rs190655078 0.00025
NM_000108.5(DLD):c.321A>G (p.Ala107=) rs138398782 0.00022
NM_000108.5(DLD):c.519T>G (p.Val173=) rs148559280 0.00021
NM_000108.5(DLD):c.282C>T (p.Asn94=) rs144617361 0.00018
NM_000108.5(DLD):c.267+9G>A rs188936529 0.00011
NM_000108.5(DLD):c.549G>A (p.Thr183=) rs150630885 0.00011
NM_000108.5(DLD):c.337+7A>G rs371072449 0.00010
NM_000108.5(DLD):c.876-6A>T rs199944006 0.00010
NM_000108.5(DLD):c.*1876G>A rs142001971 0.00009
NM_000108.5(DLD):c.74A>C (p.Gln25Pro) rs61749951 0.00009
NM_000108.5(DLD):c.119-4G>A rs376605135 0.00008
NM_000108.5(DLD):c.1452T>C (p.Cys484=) rs760982359 0.00008
NM_000108.5(DLD):c.582+18T>C rs146124800 0.00007
NM_000108.5(DLD):c.1464+16A>G rs542837065 0.00005
NM_000108.5(DLD):c.609T>C (p.Ser203=) rs144590106 0.00005
NM_000108.5(DLD):c.807G>T (p.Gly269=) rs912822748 0.00005
NM_000108.5(DLD):c.951C>G (p.Pro317=) rs778207997 0.00004
NM_000108.5(DLD):c.105C>T (p.Tyr35=) rs747810875 0.00003
NM_000108.5(DLD):c.1503G>A (p.Ala501=) rs766286119 0.00003
NM_000108.5(DLD):c.342C>T (p.Ser114=) rs757785953 0.00003
NM_000108.5(DLD):c.495G>A (p.Thr165=) rs202125454 0.00003
NM_000108.5(DLD):c.36C>T (p.Ala12=) rs780127925 0.00002
NM_000108.5(DLD):c.45C>G (p.Gly15=) rs570539642 0.00002
NM_000108.5(DLD):c.528A>T (p.Thr176=) rs1391814799 0.00002
NM_000108.5(DLD):c.597A>T (p.Thr199=) rs768248572 0.00002
NM_000108.5(DLD):c.72A>G (p.Leu24=) rs769445579 0.00002
NM_000108.5(DLD):c.735A>G (p.Leu245=) rs754865063 0.00002
NM_000108.5(DLD):c.1032A>G (p.Gln344=) rs762641521 0.00001
NM_000108.5(DLD):c.1046+16G>T rs766014238 0.00001
NM_000108.5(DLD):c.1047-13A>T rs1053911246 0.00001
NM_000108.5(DLD):c.1074T>C (p.Ala358=) rs768703850 0.00001
NM_000108.5(DLD):c.108A>G (p.Ala36=) rs1401309256 0.00001
NM_000108.5(DLD):c.1101G>A (p.Glu367=) rs377345899 0.00001
NM_000108.5(DLD):c.1161T>C (p.Asn387=) rs1232556757 0.00001
NM_000108.5(DLD):c.118+18A>G rs1189113339 0.00001
NM_000108.5(DLD):c.1182C>T (p.Tyr394=) rs757087726 0.00001
NM_000108.5(DLD):c.119-16T>C rs374339774 0.00001
NM_000108.5(DLD):c.119-5C>T rs377653882 0.00001
NM_000108.5(DLD):c.1236+19_1236+20insAAAA rs756355694 0.00001
NM_000108.5(DLD):c.1236+9G>A rs780911500 0.00001
NM_000108.5(DLD):c.1266A>G (p.Pro422=) rs766756785 0.00001
NM_000108.5(DLD):c.1275T>C (p.Ala425=) rs751879528 0.00001
NM_000108.5(DLD):c.1443T>G (p.Ala481=) rs775957704 0.00001
NM_000108.5(DLD):c.1467C>A (p.Thr489=) rs1381413555 0.00001
NM_000108.5(DLD):c.1500T>C (p.Ala500=) rs773097788 0.00001
NM_000108.5(DLD):c.199-4G>T rs763348101 0.00001
NM_000108.5(DLD):c.199-7G>T rs1358100638 0.00001
NM_000108.5(DLD):c.204C>G (p.Val68=) rs553951105 0.00001
NM_000108.5(DLD):c.24C>T (p.Tyr8=) rs778122189 0.00001
NM_000108.5(DLD):c.267+12T>C rs377312138 0.00001
NM_000108.5(DLD):c.268-15T>C rs2031928183 0.00001
NM_000108.5(DLD):c.268-19T>C rs373587265 0.00001
NM_000108.5(DLD):c.268-7C>T rs1584463325 0.00001
NM_000108.5(DLD):c.337+17T>C rs1428305327 0.00001
NM_000108.5(DLD):c.351C>A (p.Arg117=) rs374988228 0.00001
NM_000108.5(DLD):c.375G>A (p.Glu125=) rs559057715 0.00001
NM_000108.5(DLD):c.387T>A (p.Thr129=) rs748122031 0.00001
NM_000108.5(DLD):c.39+11A>C rs2031564900 0.00001
NM_000108.5(DLD):c.39+14A>T rs1010391750 0.00001
NM_000108.5(DLD):c.39+20G>C rs2116150396 0.00001
NM_000108.5(DLD):c.393A>G (p.Val131=) rs773013949 0.00001
NM_000108.5(DLD):c.417C>G (p.Ala139=) rs759291025 0.00001
NM_000108.5(DLD):c.504T>C (p.Asp168=) rs1291877622 0.00001
NM_000108.5(DLD):c.508G>A (p.Gly170Ser) rs567286177 0.00001
NM_000108.5(DLD):c.540T>C (p.Leu180=) rs369876154 0.00001
NM_000108.5(DLD):c.57A>T (p.Arg19=) rs754899464 0.00001
NM_000108.5(DLD):c.669A>C (p.Val223=) rs764478905 0.00001
NM_000108.5(DLD):c.684+10G>A rs1345267865 0.00001
NM_000108.5(DLD):c.684+9T>A rs1160897223 0.00001
NM_000108.5(DLD):c.685-18T>G rs1024935993 0.00001
NM_000108.5(DLD):c.685-19T>C rs562321853 0.00001
NM_000108.5(DLD):c.69C>T (p.Gly23=) rs2535560900 0.00001
NM_000108.5(DLD):c.720A>G (p.Thr240=) rs1165243466 0.00001
NM_000108.5(DLD):c.723A>C (p.Ala241=) rs751488296 0.00001
NM_000108.5(DLD):c.741T>C (p.His247=) rs781000040 0.00001
NM_000108.5(DLD):c.876-19T>C rs759602859 0.00001
NM_000108.5(DLD):c.96G>C (p.Leu32=) rs765623212 0.00001
NM_000108.5(DLD):c.*470G>A rs111619940
NM_000108.5(DLD):c.1005T>C (p.Gly335=) rs763878786
NM_000108.5(DLD):c.1011T>C (p.Ile337=) rs761507009
NM_000108.5(DLD):c.1014A>G (p.Pro338=) rs764979410
NM_000108.5(DLD):c.1023C>A (p.Thr341=) rs2116270465
NM_000108.5(DLD):c.1023C>T (p.Thr341=) rs2116270465
NM_000108.5(DLD):c.1035T>C (p.Thr345=) rs2535601459
NM_000108.5(DLD):c.1044A>C (p.Pro348=) rs1241426016
NM_000108.5(DLD):c.1046+16G>A rs766014238
NM_000108.5(DLD):c.1047-13_1047-5del rs1462836154
NM_000108.5(DLD):c.1047-19C>A rs2535602142
NM_000108.5(DLD):c.1047-4G>T rs2116271429
NM_000108.5(DLD):c.1047-7G>A rs2535602165
NM_000108.5(DLD):c.1047-7G>T rs2535602165
NM_000108.5(DLD):c.1047-7_1047-4del rs2116271424
NM_000108.5(DLD):c.1053T>C (p.Tyr351=) rs2116271455
NM_000108.5(DLD):c.108A>T (p.Ala36=) rs1401309256
NM_000108.5(DLD):c.1095A>G (p.Lys365=) rs2535602297
NM_000108.5(DLD):c.1113T>C (p.Ile371=) rs773097241
NM_000108.5(DLD):c.1116C>A (p.Ile372=) rs2116271616
NM_000108.5(DLD):c.1158C>T (p.Tyr386=) rs2535602518
NM_000108.5(DLD):c.1173A>G (p.Ser391=) rs2535602544
NM_000108.5(DLD):c.1179T>C (p.Ile393=) rs554282866
NM_000108.5(DLD):c.118+10T>G rs1436028319
NM_000108.5(DLD):c.118+11A>G rs754871925
NM_000108.5(DLD):c.118+13G>A rs202216653
NM_000108.5(DLD):c.118+19C>G rs1584455598
NM_000108.5(DLD):c.118+19C>T rs1584455598
NM_000108.5(DLD):c.119-18A>T rs2535572221
NM_000108.5(DLD):c.119-7A>G rs2116206903
NM_000108.5(DLD):c.119-9T>C rs2535572243
NM_000108.5(DLD):c.1191T>C (p.Pro397=) rs2116272074
NM_000108.5(DLD):c.1215A>G (p.Ser405=) rs1358063208
NM_000108.5(DLD):c.1221G>A (p.Glu407=) rs748064769
NM_000108.5(DLD):c.1233A>G (p.Glu411=) rs2535602798
NM_000108.5(DLD):c.1236+13A>T rs2701026
NM_000108.5(DLD):c.1236+16G>A rs2116272359
NM_000108.5(DLD):c.1236+16G>T rs2116272359
NM_000108.5(DLD):c.1236+7C>A rs1554400485
NM_000108.5(DLD):c.1237-13C>G rs2535603689
NM_000108.5(DLD):c.1237-17T>C rs2535603685
NM_000108.5(DLD):c.1237-5C>T rs2032309967
NM_000108.5(DLD):c.1237-7G>A rs765771763
NM_000108.5(DLD):c.1237-7G>C rs765771763
NM_000108.5(DLD):c.1245G>A (p.Glu415=) rs2535603737
NM_000108.5(DLD):c.1248C>T (p.Tyr416=) rs773685921
NM_000108.5(DLD):c.1254T>A (p.Val418=) rs763401114
NM_000108.5(DLD):c.1254T>C (p.Val418=) rs763401114
NM_000108.5(DLD):c.1272T>C (p.Ala424=) rs1005430908
NM_000108.5(DLD):c.1296T>C (p.Asn432=) rs2116274251
NM_000108.5(DLD):c.1302C>T (p.Asp434=) rs2535603902
NM_000108.5(DLD):c.1320G>A (p.Lys440=) rs2116274362
NM_000108.5(DLD):c.1323C>T (p.Ile441=) rs2535603966
NM_000108.5(DLD):c.1338G>A (p.Ser446=) rs1323254312
NM_000108.5(DLD):c.1341A>C (p.Thr447=)
NM_000108.5(DLD):c.1344C>T (p.Asp448=) rs2032313680
NM_000108.5(DLD):c.1353G>A (p.Leu451=) rs2535604056
NM_000108.5(DLD):c.1359A>G (p.Ala453=) rs1291150689
NM_000108.5(DLD):c.1375-17G>T rs2535606086
NM_000108.5(DLD):c.1377T>A (p.Gly459=) rs2032340474
NM_000108.5(DLD):c.1416A>G (p.Glu472=) rs2535606243
NM_000108.5(DLD):c.1422A>G (p.Gly474=) rs34453495
NM_000108.5(DLD):c.1428C>T (p.Ser476=) rs2032344125
NM_000108.5(DLD):c.1437T>C (p.Asp479=) rs2535606312
NM_000108.5(DLD):c.144T>C (p.Gly48=) rs2116207135
NM_000108.5(DLD):c.1464+17T>C rs2116278286
NM_000108.5(DLD):c.1464+19T>C rs1345294191
NM_000108.5(DLD):c.1465-12C>T rs2535606614
NM_000108.5(DLD):c.1465-16A>T rs2535606606
NM_000108.5(DLD):c.1465-19T>C
NM_000108.5(DLD):c.1465-7C>G rs886061908
NM_000108.5(DLD):c.1465-9C>T rs2032348186
NM_000108.5(DLD):c.1482T>C (p.Phe494=) rs2032348683
NM_000108.5(DLD):c.1506A>G (p.Ser502=) rs941059131
NM_000108.5(DLD):c.1515A>G (p.Lys505=) rs2535606761
NM_000108.5(DLD):c.1527T>C (p.Phe509=) rs2535606800
NM_000108.5(DLD):c.156A>G (p.Gly52=) rs1175219333
NM_000108.5(DLD):c.159A>G (p.Gly53=) rs2535572372
NM_000108.5(DLD):c.168T>C (p.Ala56=) rs2116207243
NM_000108.5(DLD):c.180T>G (p.Ala60=) rs2116207327
NM_000108.5(DLD):c.183C>G (p.Ala61=) rs2031882834
NM_000108.5(DLD):c.183C>T (p.Ala61=) rs2031882834
NM_000108.5(DLD):c.189A>G (p.Leu63=) rs2535572443
NM_000108.5(DLD):c.18T>C (p.Arg6=) rs2116150112
NM_000108.5(DLD):c.192C>A (p.Gly64=) rs1222766486
NM_000108.5(DLD):c.198+10G>C rs777566045
NM_000108.5(DLD):c.199-10T>C rs2116209763
NM_000108.5(DLD):c.199-4G>A rs763348101
NM_000108.5(DLD):c.199-6T>C rs1584462430
NM_000108.5(DLD):c.204C>T (p.Val68=) rs553951105
NM_000108.5(DLD):c.228T>C (p.Leu76=) rs2535573575
NM_000108.5(DLD):c.231T>C (p.Gly77=) rs2535573597
NM_000108.5(DLD):c.237A>G (p.Thr79=) rs2116210065
NM_000108.5(DLD):c.267+8T>A rs1370870673
NM_000108.5(DLD):c.267+9G>C rs188936529
NM_000108.5(DLD):c.268-20A>T rs992452328
NM_000108.5(DLD):c.268-6C>T rs1292843967
NM_000108.5(DLD):c.273A>G (p.Leu91=) rs2535575846
NM_000108.5(DLD):c.27C>T (p.Cys9=) rs2535557741
NM_000108.5(DLD):c.285T>C (p.Ser95=) rs761564212
NM_000108.5(DLD):c.297T>C (p.His99=) rs945939975
NM_000108.5(DLD):c.306T>C (p.His102=) rs796051950
NM_000108.5(DLD):c.30C>A (p.Ser10=) rs779166996
NM_000108.5(DLD):c.30C>T (p.Ser10=) rs779166996
NM_000108.5(DLD):c.337+10C>T rs752671238
NM_000108.5(DLD):c.337+16A>G rs2535576021
NM_000108.5(DLD):c.337+19C>T rs751168608
NM_000108.5(DLD):c.338-18del rs756193519
NM_000108.5(DLD):c.338-4A>C rs2116219347
NM_000108.5(DLD):c.351C>G (p.Arg117=) rs374988228
NM_000108.5(DLD):c.351C>T (p.Arg117=) rs374988228
NM_000108.5(DLD):c.39+10G>A rs2535557827
NM_000108.5(DLD):c.39+10G>C rs2535557827
NM_000108.5(DLD):c.39+12G>A rs2535557874
NM_000108.5(DLD):c.39+14A>G rs1010391750
NM_000108.5(DLD):c.39+7G>A rs2535557820
NM_000108.5(DLD):c.40-10C>G rs2116162378
NM_000108.5(DLD):c.40-17A>G rs765497717
NM_000108.5(DLD):c.40-18G>A rs2116162317
NM_000108.5(DLD):c.40-20G>A rs2031631950
NM_000108.5(DLD):c.40-4del rs2116162407
NM_000108.5(DLD):c.421T>C (p.Leu141=) rs2116219899
NM_000108.5(DLD):c.432G>A (p.Gln144=)
NM_000108.5(DLD):c.438+12A>C rs2535578534
NM_000108.5(DLD):c.438+15T>C rs750873275
NM_000108.5(DLD):c.438+15T>G rs750873275
NM_000108.5(DLD):c.438+16T>G rs1387343228
NM_000108.5(DLD):c.438+7G>A rs1179275852
NM_000108.5(DLD):c.439-4A>G rs1270309743
NM_000108.5(DLD):c.439-6G>C rs369208046
NM_000108.5(DLD):c.439-7_439-6inv
NM_000108.5(DLD):c.444T>G (p.Val148=) rs2116221274
NM_000108.5(DLD):c.447T>C (p.His149=)
NM_000108.5(DLD):c.450C>A (p.Val150=) rs2116221334
NM_000108.5(DLD):c.453T>C (p.Asn151=) rs2535579138
NM_000108.5(DLD):c.462A>G (p.Gly154=) rs2116221430
NM_000108.5(DLD):c.474C>A (p.Gly158=) rs2116221541
NM_000108.5(DLD):c.474C>T (p.Gly158=) rs2116221541
NM_000108.5(DLD):c.486C>A (p.Val162=) rs2535579219
NM_000108.5(DLD):c.489T>G (p.Thr163=) rs2535579228
NM_000108.5(DLD):c.48T>C (p.His16=) rs2031632982
NM_000108.5(DLD):c.507C>A (p.Gly169=) rs144351432
NM_000108.5(DLD):c.513T>A (p.Thr171=) rs1420090684
NM_000108.5(DLD):c.516G>A (p.Gln172=) rs777748761
NM_000108.5(DLD):c.546C>T (p.Ala182=)
NM_000108.5(DLD):c.552T>C (p.Gly184=) rs2535579526
NM_000108.5(DLD):c.582+11T>G rs2535579650
NM_000108.5(DLD):c.582+13C>A rs2535579655
NM_000108.5(DLD):c.582+16A>G rs2535579663
NM_000108.5(DLD):c.582+16_582+17insC rs2535579669
NM_000108.5(DLD):c.582+18T>G rs146124800
NM_000108.5(DLD):c.582+19T>G rs2535579682
NM_000108.5(DLD):c.582+7A>G rs2535579633
NM_000108.5(DLD):c.582+7A>T rs2535579633
NM_000108.5(DLD):c.583-15_583-14del rs947296124
NM_000108.5(DLD):c.583-8T>A rs2535581374
NM_000108.5(DLD):c.585A>T (p.Ile195=) rs2032004224
NM_000108.5(DLD):c.597A>G (p.Thr199=) rs768248572
NM_000108.5(DLD):c.606A>T (p.Ser202=) rs1362069416
NM_000108.5(DLD):c.615T>A (p.Gly205=) rs2535581538
NM_000108.5(DLD):c.627A>G (p.Leu209=) rs2032005383
NM_000108.5(DLD):c.630A>G (p.Lys210=) rs2032005624
NM_000108.5(DLD):c.636T>A (p.Val212=) rs2116225767
NM_000108.5(DLD):c.654T>C (p.Val218=) rs1584465590
NM_000108.5(DLD):c.660T>C (p.Gly220=) rs2116225941
NM_000108.5(DLD):c.663A>G (p.Ala221=) rs2535581895
NM_000108.5(DLD):c.666A>G (p.Gly222=) rs2116225961
NM_000108.5(DLD):c.66T>C (p.His22=) rs2116162670
NM_000108.5(DLD):c.684+11T>A rs1398914978
NM_000108.5(DLD):c.684+20C>T rs2535582026
NM_000108.5(DLD):c.685-14T>C rs80111449
NM_000108.5(DLD):c.685-16_685-14del
NM_000108.5(DLD):c.685-17_685-14del rs759170630
NM_000108.5(DLD):c.685-20T>C rs769120118
NM_000108.5(DLD):c.685-4G>A rs1584471861
NM_000108.5(DLD):c.685-4G>T rs1584471861
NM_000108.5(DLD):c.685-8_685-5del rs2032245429
NM_000108.5(DLD):c.685-9_685-5del rs2535598392
NM_000108.5(DLD):c.699A>G (p.Gln233=) rs1418720698
NM_000108.5(DLD):c.6G>A (p.Gln2=) rs559880901
NM_000108.5(DLD):c.700A>C (p.Arg234=) rs766263857
NM_000108.5(DLD):c.70C>T (p.Leu24=) rs369442554
NM_000108.5(DLD):c.723A>G (p.Ala241=) rs751488296
NM_000108.5(DLD):c.729A>G (p.Glu243=) rs2032247071
NM_000108.5(DLD):c.744A>G (p.Val248=) rs1360320185
NM_000108.5(DLD):c.789C>T (p.Arg263=) rs2535598717
NM_000108.5(DLD):c.807G>A (p.Gly269=) rs912822748
NM_000108.5(DLD):c.828A>G (p.Thr276=) rs2032250540
NM_000108.5(DLD):c.834T>C (p.Val278=) rs1258445963
NM_000108.5(DLD):c.840T>A (p.Gly280=) rs2116264411
NM_000108.5(DLD):c.84T>A (p.Ser28=) rs2535560959
NM_000108.5(DLD):c.84T>C (p.Ser28=) rs2535560959
NM_000108.5(DLD):c.870T>C (p.Asp290=) rs953487073
NM_000108.5(DLD):c.873T>C (p.Val291=) rs2535599012
NM_000108.5(DLD):c.875+10C>T
NM_000108.5(DLD):c.875+11A>G rs2032252806
NM_000108.5(DLD):c.875+13C>A rs2535599061
NM_000108.5(DLD):c.875+14A>G rs2535599064
NM_000108.5(DLD):c.875+20T>C rs2535599087
NM_000108.5(DLD):c.875+9A>G rs2535599047
NM_000108.5(DLD):c.876-14T>C rs1032047869
NM_000108.5(DLD):c.876-17C>T
NM_000108.5(DLD):c.876-5T>A rs775377565
NM_000108.5(DLD):c.876-6A>C rs199944006
NM_000108.5(DLD):c.876-6A>G rs199944006
NM_000108.5(DLD):c.879T>C (p.Ile293=) rs2116269476
NM_000108.5(DLD):c.888T>C (p.Ala296=) rs2032281375
NM_000108.5(DLD):c.897T>C (p.Gly299=) rs2116269619
NM_000108.5(DLD):c.906A>G (p.Glu302=) rs2116269710
NM_000108.5(DLD):c.918T>C (p.Cys306=) rs1433041129
NM_000108.5(DLD):c.924A>C (p.Val308=) rs2535601108
NM_000108.5(DLD):c.924A>G (p.Val308=) rs2535601108
NM_000108.5(DLD):c.93T>C (p.Pro31=) rs1182818821
NM_000108.5(DLD):c.94C>T (p.Leu32=) rs1241052092
NM_000108.5(DLD):c.954T>C (p.Phe318=) rs2116270132
NM_000108.5(DLD):c.978G>A (p.Glu326=) rs2535601293
NM_000108.5(DLD):c.999C>G (p.Pro333=) rs1049283

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