ClinVar Miner

List of variants in gene DES reported as not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 54
Download table as spreadsheet
HGVS dbSNP
NM_001927.3(DES):c.735+2_735+11delTATACCTTGG rs267607489
NM_001927.4(DES):c.1009G>C (p.Ala337Pro) rs59962885
NM_001927.4(DES):c.1013T>G (p.Leu338Arg) rs57496341
NM_001927.4(DES):c.1024A>G (p.Asn342Asp) rs267607482
NM_001927.4(DES):c.1034T>C (p.Leu345Pro) rs57639980
NM_001927.4(DES):c.1048C>T (p.Arg350Trp) rs62636492
NM_001927.4(DES):c.1049G>C (p.Arg350Pro) rs57965306
NM_001927.4(DES):c.1064G>C (p.Arg355Pro) rs61368398
NM_001927.4(DES):c.1069G>C (p.Ala357Pro) rs58898021
NM_001927.4(DES):c.1076_1084del (p.Glu359_Ser361del) rs58409037
NM_001927.4(DES):c.1094_1096ACA[1] (p.Asn366del) rs58687088
NM_001927.4(DES):c.1099A>T (p.Ile367Phe) rs62636494
NM_001927.4(DES):c.1109T>C (p.Leu370Pro) rs59308628
NM_001927.4(DES):c.1126C>T (p.His376Tyr) rs57404866
NM_001927.4(DES):c.1154T>C (p.Leu385Pro) rs57955682
NM_001927.4(DES):c.1166A>C (p.Gln389Pro) rs121913004
NM_001927.4(DES):c.1175T>C (p.Leu392Pro) rs62636493
NM_001927.4(DES):c.1178A>T (p.Asn393Ile) rs121913001
NM_001927.4(DES):c.1195G>T (p.Asp399Tyr) rs61130669
NM_001927.4(DES):c.1201G>A (p.Glu401Lys) rs57694264
NM_001927.4(DES):c.1216C>T (p.Arg406Trp) rs121913003
NM_001927.4(DES):c.1237G>A (p.Glu413Lys) rs61726467
NM_001927.4(DES):c.1255C>T (p.Pro419Ser) rs62635763
NM_001927.4(DES):c.1325C>T (p.Thr442Ile) rs121913005
NM_001927.4(DES):c.1333A>G (p.Thr445Ala) rs267607498
NM_001927.4(DES):c.1346A>C (p.Lys449Thr) rs267607485
NM_001927.4(DES):c.1353C>G (p.Ile451Met) rs121913002
NM_001927.4(DES):c.1358C>T (p.Thr453Ile) rs267607488
NM_001927.4(DES):c.1360C>T (p.Arg454Trp) rs267607490
NM_001927.4(DES):c.1370A>T (p.Glu457Val) rs267607496
NM_001927.4(DES):c.1375G>A (p.Val459Ile) rs73991549
NM_001927.4(DES):c.1379G>T (p.Ser460Ile) rs267607491
NM_001927.4(DES):c.137C>A (p.Ser46Tyr) rs60794845
NM_001927.4(DES):c.137C>T (p.Ser46Phe) rs60794845
NM_001927.4(DES):c.1405G>A (p.Val469Met) rs267607487
NM_001927.4(DES):c.322G>A (p.Glu108Lys) rs62636490
NM_001927.4(DES):c.338_339del (p.Gln113fs) rs267607497
NM_001927.4(DES):c.340_342del (p.Glu114del) rs267607493
NM_001927.4(DES):c.347A>G (p.Asn116Ser) rs267607499
NM_001927.4(DES):c.35C>T (p.Ser12Phe) rs267607495
NM_001927.4(DES):c.38C>T (p.Ser13Phe) rs62636495
NM_001927.4(DES):c.46C>T (p.Arg16Cys) rs60798368
NM_001927.4(DES):c.521_541del (p.Ala174_Arg180del) rs60538473
NM_001927.4(DES):c.5G>T (p.Ser2Ile) rs58999456
NM_001927.4(DES):c.638C>T (p.Ala213Val) rs41272699
NM_001927.4(DES):c.640-1G>A rs267607484
NM_001927.4(DES):c.640-2A>G rs267607492
NM_001927.4(DES):c.723dup (p.Val242fs) rs57659464
NM_001927.4(DES):c.735+3A>G rs267607483
NM_001927.4(DES):c.735G>C (p.Glu245Asp) rs267607486
NM_001927.4(DES):c.821T>C (p.Leu274Pro) rs267607494
NM_001927.4(DES):c.821T>G (p.Leu274Arg) rs267607494
NM_001927.4(DES):c.893C>T (p.Ser298Leu) rs62636491
NM_001927.4(DES):c.934G>A (p.Asp312Asn) rs34337334

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.