ClinVar Miner

List of variants in gene DES reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 39
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001927.4(DES):c.736-35C>A rs41272701 0.03434
NM_001927.4(DES):c.1245-214C>G rs148363532 0.01424
NM_001927.4(DES):c.*662G>A rs116635264 0.01332
NM_001927.4(DES):c.1289-287G>A rs111253934 0.01173
NM_001927.4(DES):c.1372-53G>A rs113470975 0.01139
NM_001927.4(DES):c.1288+79G>A rs73991545 0.00987
NM_001927.4(DES):c.924C>T (p.Asn308=) rs578191306 0.00030
NM_001927.4(DES):c.1288+20C>T rs200657337 0.00018
NM_001927.4(DES):c.243C>T (p.Ser81=) rs201594392 0.00015
NM_001927.4(DES):c.1257C>T (p.Pro419=) rs143154982 0.00013
NM_001927.4(DES):c.540C>T (p.Arg180=) rs757644636 0.00009
NM_001927.4(DES):c.736-19G>A rs745667526 0.00009
NM_001927.4(DES):c.*19A>G rs560344912 0.00006
NM_001927.4(DES):c.1024-7C>G rs779098835 0.00006
NM_001927.4(DES):c.63C>T (p.Ala21=) rs201458068 0.00004
NM_001927.4(DES):c.258C>G (p.Gly86=) rs994454109 0.00002
NM_001927.4(DES):c.933C>T (p.Asn311=) rs756434148 0.00002
NM_001927.4(DES):c.-7C>G rs764966574 0.00001
NM_001927.4(DES):c.1023+14C>T rs899305731 0.00001
NM_001927.4(DES):c.12C>A (p.Ala4=) rs762566962 0.00001
NM_001927.4(DES):c.150G>T (p.Thr50=) rs1179760415 0.00001
NM_001927.4(DES):c.218G>A (p.Arg73Gln) rs752518966 0.00001
NM_001927.4(DES):c.552C>T (p.Leu184=) rs1050510822 0.00001
NM_001927.4(DES):c.640-17C>T rs762068048 0.00001
NM_001927.4(DES):c.640-4C>G rs375680081 0.00001
NM_001927.4(DES):c.816C>T (p.Ala272=) rs759823001 0.00001
NM_001927.4(DES):c.898-5C>T rs371053066 0.00001
NM_001927.4(DES):c.1024-11C>T rs566280820
NM_001927.4(DES):c.1024-3C>A rs1553603530
NM_001927.4(DES):c.1176C>G (p.Leu392=) rs1553603568
NM_001927.4(DES):c.1244+123dup rs374091713
NM_001927.4(DES):c.1244+17G>C rs750992468
NM_001927.4(DES):c.1372-3dup rs876657769
NM_001927.4(DES):c.1404A>G (p.Glu468=) rs397516691
NM_001927.4(DES):c.210G>C (p.Arg70=) rs761255472
NM_001927.4(DES):c.528C>G (p.Val176=) rs1057522906
NM_001927.4(DES):c.600G>A (p.Leu200=) rs1575014014
NM_001927.4(DES):c.897+8G>A rs1057520465
NM_001927.4(DES):c.999C>T (p.Cys333=) rs1157722667

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.