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

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: 50

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_013352.4(DSE):c.1118+43G>A	rs9942469	0.01609
NM_013352.4(DSE):c.671-211A>G	rs143281839	0.01457
NM_013352.4(DSE):c.-53-89A>G	rs115024541	0.01409
NM_013352.4(DSE):c.*228T>G	rs115358868	0.01375
NM_013352.4(DSE):c.1119-285C>G	rs17256693	0.01198
NM_013352.4(DSE):c.671-286A>G	rs112076286	0.01198
NM_013352.4(DSE):c.911-231A>C	rs192288523	0.00570
NM_013352.4(DSE):c.416+296A>G	rs112653287	0.00543
NM_013352.4(DSE):c.417-50A>G	rs113394683	0.00397
NM_013352.4(DSE):c.911-114C>T	rs553641167	0.00197
NM_013352.4(DSE):c.911-251G>A	rs184434279	0.00183
NM_013352.4(DSE):c.2651G>A (p.Arg884Gln)	rs35363262	0.00180
NM_013352.4(DSE):c.2120C>G (p.Ser707Cys)	rs140975523	0.00153
NM_013352.4(DSE):c.216G>A (p.Thr72=)	rs61747210	0.00150
NM_013352.4(DSE):c.1961G>A (p.Arg654Gln)	rs61741781	0.00109
NM_013352.4(DSE):c.1173G>A (p.Leu391=)	rs146663575	0.00050
NM_013352.4(DSE):c.1653G>A (p.Leu551=)	rs147124340	0.00050
NM_013352.4(DSE):c.450G>A (p.Pro150=)	rs773416085	0.00018
NM_013352.4(DSE):c.1221T>A (p.Pro407=)	rs140103226	0.00015
NM_013352.4(DSE):c.2727T>C (p.Ile909=)	rs199742443	0.00015
NM_013352.4(DSE):c.910+20G>A	rs376761852	0.00015
NM_013352.4(DSE):c.240C>T (p.Ser80=)	rs143347973	0.00014
NM_013352.4(DSE):c.1383T>A (p.Ala461=)	rs200485959	0.00011
NM_013352.4(DSE):c.516A>G (p.Thr172=)	rs200780195	0.00011
NM_013352.4(DSE):c.645G>A (p.Thr215=)	rs370613241	0.00011
NM_013352.4(DSE):c.359T>C (p.Ile120Thr)	rs147451395	0.00010
NM_013352.4(DSE):c.2601C>T (p.Tyr867=)	rs535021192	0.00009
NM_013352.4(DSE):c.1860C>T (p.Asp620=)	rs376227527	0.00007
NM_013352.4(DSE):c.-53-4G>A	rs763584486	0.00005
NM_013352.4(DSE):c.2082C>T (p.Tyr694=)	rs776273558	0.00004
NM_013352.4(DSE):c.2370T>C (p.Ile790=)	rs145906435	0.00002
NM_013352.4(DSE):c.2428C>G (p.Arg810Gly)	rs199731077	0.00002
NM_013352.4(DSE):c.2661A>G (p.Thr887=)	rs762839207	0.00002
NM_013352.4(DSE):c.780G>A (p.Ala260=)	rs765697282	0.00002
NM_013352.4(DSE):c.136C>T (p.Leu46=)	rs754023509	0.00001
NM_013352.4(DSE):c.1437C>T (p.Phe479=)	rs757356537	0.00001
NM_013352.4(DSE):c.1512A>G (p.Glu504=)	rs200018749	0.00001
NM_013352.4(DSE):c.2334G>T (p.Leu778=)	rs534248134	0.00001
NM_013352.4(DSE):c.416+13C>T	rs765373035	0.00001
NM_013352.4(DSE):c.911-15A>G	rs1232495093	0.00001
NM_013352.4(DSE):c.1284T>C (p.Tyr428=)	rs1583235798
NM_013352.4(DSE):c.1428G>A (p.Lys476=)	rs1554228114
NM_013352.4(DSE):c.1752G>C (p.Ala584=)	rs561665809
NM_013352.4(DSE):c.1827G>A (p.Gln609=)	rs1554228227
NM_013352.4(DSE):c.2001A>G (p.Pro667=)	rs1554228309
NM_013352.4(DSE):c.2547C>T (p.Pro849=)	rs1057524403
NM_013352.4(DSE):c.417-15T>G	rs377249948
NM_013352.4(DSE):c.483T>G (p.Ala161=)	rs1554226781
NM_013352.4(DSE):c.495G>A (p.Leu165=)	rs1057524129
NM_013352.4(DSE):c.74_75delinsTT (p.Thr25Ile)	rs1554222279

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.