List of variants in gene DHDDS reported as likely benign for inborn disorder of amino acid metabolism

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 251

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_205861.3(DHDDS):c.*629C>T	rs2494394	0.04709
NM_024887.3(DHDDS):c.-119G>A	rs115681222	0.01071
NM_205861.3(DHDDS):c.140G>A (p.Arg47Gln)	rs149949619	0.00274
NM_205861.3(DHDDS):c.912C>G (p.Ala304=)	rs747231238	0.00031
NM_205861.3(DHDDS):c.908C>T (p.Ser303Leu)	rs141852437	0.00024
NM_205861.3(DHDDS):c.33T>C (p.Leu11=)	rs139193738	0.00016
NM_205861.3(DHDDS):c.564T>C (p.Leu188=)	rs371976956	0.00016
NM_205861.3(DHDDS):c.990T>C (p.Thr330=)	rs773902080	0.00014
NM_205861.3(DHDDS):c.312G>A (p.Leu104=)	rs146693904	0.00006
NM_205861.3(DHDDS):c.480T>C (p.His160=)	rs758260694	0.00006
NM_205861.3(DHDDS):c.504G>A (p.Glu168=)	rs1251271750	0.00006
NM_205861.3(DHDDS):c.219G>A (p.Val73=)	rs771438629	0.00003
NM_205861.3(DHDDS):c.273C>T (p.Asp91=)	rs201045286	0.00003
NM_205861.3(DHDDS):c.441-10C>T	rs763275058	0.00003
NM_205861.3(DHDDS):c.651A>G (p.Leu217=)	rs1296634591	0.00003
NM_205861.3(DHDDS):c.181-9C>T	rs754405782	0.00002
NM_205861.3(DHDDS):c.756C>T (p.Ser252=)	rs565600867	0.00002
NM_205861.3(DHDDS):c.909G>A (p.Ser303=)	rs376517028	0.00002
NM_205861.3(DHDDS):c.102C>T (p.Asp34=)	rs577531413	0.00001
NM_205861.3(DHDDS):c.181-16C>A	rs1462542158	0.00001
NM_205861.3(DHDDS):c.198G>A (p.Leu66=)	rs1308665778	0.00001
NM_205861.3(DHDDS):c.213A>G (p.Leu71=)	rs1230195916	0.00001
NM_205861.3(DHDDS):c.228C>T (p.Tyr76=)	rs566029202	0.00001
NM_205861.3(DHDDS):c.231A>G (p.Ala77=)	rs373249607	0.00001
NM_205861.3(DHDDS):c.270A>T (p.Val90=)	rs1482389957	0.00001
NM_205861.3(DHDDS):c.324-4T>G	rs747118618	0.00001
NM_205861.3(DHDDS):c.361C>T (p.Leu121=)	rs770824761	0.00001
NM_205861.3(DHDDS):c.366C>T (p.Gly122=)	rs774001400	0.00001
NM_205861.3(DHDDS):c.426G>A (p.Thr142=)	rs780727048	0.00001
NM_205861.3(DHDDS):c.440+8C>A	rs1454410409	0.00001
NM_205861.3(DHDDS):c.441-20T>G	rs750044465	0.00001
NM_205861.3(DHDDS):c.45C>T (p.Phe15=)	rs1168720054	0.00001
NM_205861.3(DHDDS):c.465A>G (p.Ala155=)	rs202148886	0.00001
NM_205861.3(DHDDS):c.468C>T (p.Tyr156=)	rs768075911	0.00001
NM_205861.3(DHDDS):c.519G>A (p.Val173=)	rs372941732	0.00001
NM_205861.3(DHDDS):c.542+16T>C	rs774865740	0.00001
NM_205861.3(DHDDS):c.542+7C>T	rs772779004	0.00001
NM_205861.3(DHDDS):c.543-10C>T	rs1326477506	0.00001
NM_205861.3(DHDDS):c.561G>A (p.Leu187=)	rs1264707466	0.00001
NM_205861.3(DHDDS):c.57C>T (p.Ile19=)	rs981419090	0.00001
NM_205861.3(DHDDS):c.63+13C>T	rs370926608	0.00001
NM_205861.3(DHDDS):c.64-12C>A	rs201786378	0.00001
NM_205861.3(DHDDS):c.64-7T>C	rs557755780	0.00001
NM_205861.3(DHDDS):c.658-11A>G	rs1243630480	0.00001
NM_205861.3(DHDDS):c.723C>T (p.Phe241=)	rs375378756	0.00001
NM_205861.3(DHDDS):c.738G>A (p.Gln246=)	rs369614880	0.00001
NM_205861.3(DHDDS):c.753T>C (p.His251=)	rs915027151	0.00001
NM_205861.3(DHDDS):c.765+18G>T	rs748452578	0.00001
NM_205861.3(DHDDS):c.78G>A (p.Pro26=)	rs988933766	0.00001
NM_205861.3(DHDDS):c.837G>A (p.Glu279=)	rs772459112	0.00001
NM_205861.3(DHDDS):c.987C>T (p.Gly329=)	rs1381026387	0.00001
NM_205861.3(DHDDS):c.*623G>A	rs77122971
NM_205861.3(DHDDS):c.108C>T (p.Asn36=)
NM_205861.3(DHDDS):c.111T>G (p.Arg37=)	rs2075181248
NM_205861.3(DHDDS):c.117T>C (p.Tyr39=)
NM_205861.3(DHDDS):c.120C>G (p.Ala40=)
NM_205861.3(DHDDS):c.126G>A (p.Lys42=)	rs1044233189
NM_205861.3(DHDDS):c.12C>T (p.Ile4=)
NM_205861.3(DHDDS):c.135G>T (p.Val45=)
NM_205861.3(DHDDS):c.138G>A (p.Glu46=)	rs768883929
NM_205861.3(DHDDS):c.139C>A (p.Arg47=)
NM_205861.3(DHDDS):c.141G>A (p.Arg47=)
NM_205861.3(DHDDS):c.144G>A (p.Gln48=)
NM_205861.3(DHDDS):c.153C>T (p.His51=)
NM_205861.3(DHDDS):c.168C>T (p.Asn56=)
NM_205861.3(DHDDS):c.171G>A (p.Lys57=)
NM_205861.3(DHDDS):c.177T>C (p.Ala59=)
NM_205861.3(DHDDS):c.180+13G>A
NM_205861.3(DHDDS):c.180+15C>T
NM_205861.3(DHDDS):c.180+18A>G
NM_205861.3(DHDDS):c.180+19G>A
NM_205861.3(DHDDS):c.180+6dup
NM_205861.3(DHDDS):c.180+9G>A
NM_205861.3(DHDDS):c.180+9G>T	rs1472332898
NM_205861.3(DHDDS):c.181-17G>A
NM_205861.3(DHDDS):c.181-5C>T	rs2124403419
NM_205861.3(DHDDS):c.181-7C>G	rs2075230604
NM_205861.3(DHDDS):c.181-7C>T	rs2075230604
NM_205861.3(DHDDS):c.181-8C>T
NM_205861.3(DHDDS):c.186G>A (p.Leu62=)	rs2124403465
NM_205861.3(DHDDS):c.186G>T (p.Leu62=)	rs2124403465
NM_205861.3(DHDDS):c.189G>C (p.Arg63=)
NM_205861.3(DHDDS):c.202C>T (p.Leu68=)	rs2124403620
NM_205861.3(DHDDS):c.207C>T (p.Gly69=)
NM_205861.3(DHDDS):c.210C>T (p.Ile70=)	rs1343687682
NM_205861.3(DHDDS):c.261G>A (p.Lys87=)
NM_205861.3(DHDDS):c.264T>C (p.Ser88=)	rs2075231676
NM_205861.3(DHDDS):c.294G>A (p.Arg98=)	rs2075232193
NM_205861.3(DHDDS):c.294G>T (p.Arg98=)	rs2075232193
NM_205861.3(DHDDS):c.309C>T (p.Arg103=)	rs545547217
NM_205861.3(DHDDS):c.310T>C (p.Leu104=)
NM_205861.3(DHDDS):c.323+10T>C	rs2124404634
NM_205861.3(DHDDS):c.323+11A>C
NM_205861.3(DHDDS):c.323+16A>T
NM_205861.3(DHDDS):c.323+17G>A
NM_205861.3(DHDDS):c.323+7T>G
NM_205861.3(DHDDS):c.323+9C>G
NM_205861.3(DHDDS):c.324-18C>T
NM_205861.3(DHDDS):c.324-20T>C
NM_205861.3(DHDDS):c.324-6G>C
NM_205861.3(DHDDS):c.324-7T>C	rs1421223894
NM_205861.3(DHDDS):c.324-8C>T
NM_205861.3(DHDDS):c.324-9C>A
NM_205861.3(DHDDS):c.324-9C>T
NM_205861.3(DHDDS):c.336G>A (p.Gln112=)
NM_205861.3(DHDDS):c.345G>A (p.Gly115=)
NM_205861.3(DHDDS):c.348G>A (p.Val116=)	rs2124425536
NM_205861.3(DHDDS):c.357G>A (p.Arg119=)
NM_205861.3(DHDDS):c.357G>C (p.Arg119=)	rs1440891060
NM_205861.3(DHDDS):c.363G>A (p.Leu121=)
NM_205861.3(DHDDS):c.363G>C (p.Leu121=)	rs1570342748
NM_205861.3(DHDDS):c.384C>T (p.Pro128=)
NM_205861.3(DHDDS):c.387G>A (p.Leu129=)
NM_205861.3(DHDDS):c.408A>G (p.Ala136=)
NM_205861.3(DHDDS):c.40C>A (p.Arg14=)
NM_205861.3(DHDDS):c.423C>A (p.Ala141=)
NM_205861.3(DHDDS):c.423C>T (p.Ala141=)	rs1290238393
NM_205861.3(DHDDS):c.429G>A (p.Lys143=)	rs2124426337
NM_205861.3(DHDDS):c.42G>A (p.Arg14=)
NM_205861.3(DHDDS):c.42G>C (p.Arg14=)	rs2124329616
NM_205861.3(DHDDS):c.435C>T (p.Tyr145=)
NM_205861.3(DHDDS):c.438C>T (p.Asn146=)	rs2124426386
NM_205861.3(DHDDS):c.440+10C>T
NM_205861.3(DHDDS):c.440+12_440+13del
NM_205861.3(DHDDS):c.440+14T>G	rs1283007450
NM_205861.3(DHDDS):c.440+20T>C	rs2124426555
NM_205861.3(DHDDS):c.440+7T>A
NM_205861.3(DHDDS):c.440+7T>G
NM_205861.3(DHDDS):c.441-12_441-10del
NM_205861.3(DHDDS):c.441-14T>G
NM_205861.3(DHDDS):c.441-16_441-15del
NM_205861.3(DHDDS):c.441-18C>A	rs2124432827
NM_205861.3(DHDDS):c.441-5C>T	rs1325644117
NM_205861.3(DHDDS):c.450G>A (p.Leu150=)	rs2124433011
NM_205861.3(DHDDS):c.450G>T (p.Leu150=)
NM_205861.3(DHDDS):c.459T>C (p.Cys153=)	rs1262736639
NM_205861.3(DHDDS):c.486C>T (p.Ile162=)
NM_205861.3(DHDDS):c.492T>C (p.Asn164=)
NM_205861.3(DHDDS):c.498G>A (p.Val166=)	rs2124433383
NM_205861.3(DHDDS):c.501A>G (p.Arg167=)
NM_205861.3(DHDDS):c.510C>T (p.Ala170=)
NM_205861.3(DHDDS):c.516G>C (p.Gly172=)	rs776512735
NM_205861.3(DHDDS):c.516G>T (p.Gly172=)
NM_205861.3(DHDDS):c.51C>T (p.Ala17=)
NM_205861.3(DHDDS):c.531G>T (p.Leu177=)
NM_205861.3(DHDDS):c.532T>C (p.Leu178=)
NM_205861.3(DHDDS):c.542+11T>G	rs1268905536
NM_205861.3(DHDDS):c.542+18G>A
NM_205861.3(DHDDS):c.542+7C>A	rs772779004
NM_205861.3(DHDDS):c.542+8G>T	rs149948788
NM_205861.3(DHDDS):c.543-10C>G
NM_205861.3(DHDDS):c.543-11G>C
NM_205861.3(DHDDS):c.543-11G>T
NM_205861.3(DHDDS):c.543-5C>G
NM_205861.3(DHDDS):c.543-7A>G	rs2124489161
NM_205861.3(DHDDS):c.543-8C>G	rs2124489154
NM_205861.3(DHDDS):c.549C>T (p.Ile183=)	rs2124489198
NM_205861.3(DHDDS):c.561G>T (p.Leu187=)	rs1264707466
NM_205861.3(DHDDS):c.570G>A (p.Lys190=)	rs1570357051
NM_205861.3(DHDDS):c.576C>G (p.Leu192=)
NM_205861.3(DHDDS):c.588C>A (p.Arg196=)	rs745513492
NM_205861.3(DHDDS):c.591T>G (p.Ser197=)	rs794727876
NM_205861.3(DHDDS):c.600T>C (p.Pro200=)
NM_205861.3(DHDDS):c.603C>T (p.Asp201=)	rs775940416
NM_205861.3(DHDDS):c.615G>T (p.Arg205=)
NM_205861.3(DHDDS):c.621T>C (p.Ser207=)	rs1280728029
NM_205861.3(DHDDS):c.63+11del	rs2124329873
NM_205861.3(DHDDS):c.63+18G>A
NM_205861.3(DHDDS):c.63+19C>T
NM_205861.3(DHDDS):c.63+9T>C
NM_205861.3(DHDDS):c.64-11C>T
NM_205861.3(DHDDS):c.64-12C>T	rs201786378
NM_205861.3(DHDDS):c.64-19T>C
NM_205861.3(DHDDS):c.64-19T>G
NM_205861.3(DHDDS):c.64-20T>C
NM_205861.3(DHDDS):c.64-6C>T
NM_205861.3(DHDDS):c.64-9A>C	rs1252758141
NM_205861.3(DHDDS):c.646T>C (p.Leu216=)	rs2124489873
NM_205861.3(DHDDS):c.649C>T (p.Leu217=)
NM_205861.3(DHDDS):c.657+11T>G
NM_205861.3(DHDDS):c.657+17T>C
NM_205861.3(DHDDS):c.657+8A>G
NM_205861.3(DHDDS):c.658-11A>C
NM_205861.3(DHDDS):c.658-11A>T
NM_205861.3(DHDDS):c.658-11_658-9dup	rs2124501126
NM_205861.3(DHDDS):c.658-12T>C
NM_205861.3(DHDDS):c.658-12T>G
NM_205861.3(DHDDS):c.658-17C>T
NM_205861.3(DHDDS):c.658-19T>C
NM_205861.3(DHDDS):c.658-20C>G
NM_205861.3(DHDDS):c.658-5C>G
NM_205861.3(DHDDS):c.658-5C>T
NM_205861.3(DHDDS):c.658-8T>C	rs1358796301
NM_205861.3(DHDDS):c.658-9C>T	rs1291000354
NM_205861.3(DHDDS):c.660C>A (p.Thr220=)
NM_205861.3(DHDDS):c.684A>G (p.Gln228=)	rs766651316
NM_205861.3(DHDDS):c.687C>T (p.Pro229=)	rs1166377469
NM_205861.3(DHDDS):c.691C>T (p.Leu231=)
NM_205861.3(DHDDS):c.699A>G (p.Pro233=)
NM_205861.3(DHDDS):c.6A>G (p.Ser2=)	rs2124329360
NM_205861.3(DHDDS):c.702G>A (p.Glu234=)	rs2124501446
NM_205861.3(DHDDS):c.705T>C (p.Tyr235=)
NM_205861.3(DHDDS):c.711T>C (p.Phe237=)	rs1258300851
NM_205861.3(DHDDS):c.720C>T (p.Leu240=)	rs1570359391
NM_205861.3(DHDDS):c.732C>T (p.Ile244=)
NM_205861.3(DHDDS):c.733C>T (p.Leu245=)
NM_205861.3(DHDDS):c.750C>T (p.Asn250=)	rs373118655
NM_205861.3(DHDDS):c.765+19C>T
NM_205861.3(DHDDS):c.765+7A>G
NM_205861.3(DHDDS):c.765+7A>T
NM_205861.3(DHDDS):c.765+8A>G
NM_205861.3(DHDDS):c.765+9G>C
NM_205861.3(DHDDS):c.766-10T>C	rs1275353596
NM_205861.3(DHDDS):c.766-10T>G	rs1275353596
NM_205861.3(DHDDS):c.766-12T>A
NM_205861.3(DHDDS):c.766-18C>T	rs2124551912
NM_205861.3(DHDDS):c.766-20T>C
NM_205861.3(DHDDS):c.766-6dup	rs2124552025
NM_205861.3(DHDDS):c.766-7C>G
NM_205861.3(DHDDS):c.766-8T>C
NM_205861.3(DHDDS):c.783T>C (p.Tyr261=)
NM_205861.3(DHDDS):c.789G>A (p.Glu263=)	rs2124552202
NM_205861.3(DHDDS):c.801G>A (p.Arg267=)
NM_205861.3(DHDDS):c.808C>T (p.Leu270=)	rs2124552293
NM_205861.3(DHDDS):c.813G>A (p.Glu271=)	rs774310289
NM_205861.3(DHDDS):c.816G>A (p.Arg272=)
NM_205861.3(DHDDS):c.81A>G (p.Lys27=)	rs759795707
NM_205861.3(DHDDS):c.843G>A (p.Leu281=)
NM_205861.3(DHDDS):c.846G>C (p.Leu282=)
NM_205861.3(DHDDS):c.846G>T (p.Leu282=)	rs2075522251
NM_205861.3(DHDDS):c.847C>A (p.Arg283=)	rs1327145984
NM_205861.3(DHDDS):c.855G>A (p.Gly285=)	rs928446379
NM_205861.3(DHDDS):c.855G>T (p.Gly285=)	rs928446379
NM_205861.3(DHDDS):c.864C>T (p.Ala288=)
NM_205861.3(DHDDS):c.873C>T (p.Asp291=)	rs759006198
NM_205861.3(DHDDS):c.876C>G (p.Ala292=)
NM_205861.3(DHDDS):c.879G>A (p.Gln293=)	rs1570370915
NM_205861.3(DHDDS):c.886A>C (p.Arg296=)	rs2124552882
NM_205861.3(DHDDS):c.894C>A (p.Arg298=)
NM_205861.3(DHDDS):c.909G>C (p.Ser303=)
NM_205861.3(DHDDS):c.909G>T (p.Ser303=)	rs376517028
NM_205861.3(DHDDS):c.915A>G (p.Arg305=)
NM_205861.3(DHDDS):c.916C>A (p.Arg306=)	rs139109356
NM_205861.3(DHDDS):c.921A>G (p.Glu307=)
NM_205861.3(DHDDS):c.933A>G (p.Gln311=)
NM_205861.3(DHDDS):c.939C>T (p.Phe313=)
NM_205861.3(DHDDS):c.93C>T (p.Phe31=)	rs1281509733
NM_205861.3(DHDDS):c.940C>T (p.Leu314=)	rs1553124038
NM_205861.3(DHDDS):c.951G>A (p.Leu317=)
NM_205861.3(DHDDS):c.957C>G (p.Leu319=)	rs763737754
NM_205861.3(DHDDS):c.973C>T (p.Leu325=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.