ClinVar Miner

List of variants in gene combination ENG, LOC102723566 reported as benign for cardiovascular disorder

Included ClinVar conditions (1435):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001114753.3(ENG):c.1687-117G>A rs1330684 0.28944
NM_001114753.3(ENG):c.1374A>G (p.Pro458=) rs34828244 0.00879
NM_001114753.3(ENG):c.1452C>T (p.Ser484=) rs115450389 0.00311
NM_001114753.3(ENG):c.1510G>A (p.Val504Met) rs116330805 0.00311
NM_001114753.3(ENG):c.1419C>T (p.Ser473=) rs561818608 0.00087
NM_001114753.3(ENG):c.1407G>A (p.Pro469=) rs41302657 0.00048
NM_001114753.3(ENG):c.1455G>A (p.Glu485=) rs150456852 0.00046
NM_001114753.3(ENG):c.1233C>T (p.Ser411=) rs137870512 0.00043
NM_001114753.3(ENG):c.1633G>A (p.Gly545Ser) rs142896669 0.00037
NM_001114753.3(ENG):c.1533G>A (p.Ala511=) rs140760635 0.00027
NM_001114753.3(ENG):c.1742-13C>T rs373611252 0.00021
NM_001114753.3(ENG):c.1686+6T>G rs369766351 0.00019
NM_001114753.3(ENG):c.1637C>T (p.Thr546Ile) rs372453075 0.00013
NM_001114753.3(ENG):c.1135-7G>A rs201359896 0.00008
NM_001114753.3(ENG):c.1695T>C (p.His565=) rs750637713 0.00006
NM_001114753.3(ENG):c.1316A>C (p.Lys439Thr) rs368533266 0.00005
NM_001114753.3(ENG):c.1686+19G>A rs201163068 0.00004
NM_001114753.3(ENG):c.1217G>A (p.Arg406His) rs149065210 0.00002
NM_001114753.3(ENG):c.1272+20del
NM_001114753.3(ENG):c.1365C>T (p.Tyr455=)
NM_001114753.3(ENG):c.1429-9_1429-6dup rs762494923
NM_001114753.3(ENG):c.1509C>T (p.Thr503=)
NM_001114753.3(ENG):c.1532C>T (p.Ala511Val)
NM_001114753.3(ENG):c.1583C>G (p.Pro528Arg)
NM_001114753.3(ENG):c.1687-19CT[2] rs566728279
NM_001114753.3(ENG):c.1742-16C>T

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.