ClinVar Miner

List of variants reported as benign for aortic disorder by Illumina Laboratory Services, Illumina

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000501.4(ELN):c.*501_*502insA rs34208922 0.30369
NM_000501.4(ELN):c.*1194A>G rs10233395 0.12697
NM_000501.4(ELN):c.2086+5G>C rs111866046 0.02303
NM_000501.4(ELN):c.*383T>G rs184490734 0.00783
NM_000501.3(ELN):c.-38C>T rs41410045 0.00756
NM_000501.4(ELN):c.*548G>A rs117454480 0.00696
NM_000501.4(ELN):c.1388A>G (p.Lys463Arg) rs34945509 0.00505
NM_000501.4(ELN):c.*172G>A rs56120764 0.00427
NM_000501.4(ELN):c.*1195C>T rs115872030 0.00381
NM_000501.4(ELN):c.921A>G (p.Ala307=) rs6979788 0.00327
NM_000501.4(ELN):c.1821G>C (p.Gly607=) rs144835575 0.00109
NM_000501.4(ELN):c.1232T>G (p.Val411Gly) rs200180992 0.00073
NM_000501.4(ELN):c.212C>T (p.Ala71Val) rs41350445 0.00073
NM_000501.4(ELN):c.278C>T (p.Pro93Leu) rs181019457 0.00048
NM_000501.4(ELN):c.931G>A (p.Ala311Thr) rs41376344 0.00034
NM_000501.4(ELN):c.*562A>C rs539096901 0.00029
NM_000501.4(ELN):c.1338C>T (p.Ala446=) rs146576615 0.00016
NM_000501.4(ELN):c.249C>T (p.Pro83=) rs565001805 0.00016
NM_000501.4(ELN):c.1271G>A (p.Gly424Glu) rs782725817 0.00010
NM_000501.4(ELN):c.886G>A (p.Ala296Thr) rs782335529 0.00006
NM_000501.4(ELN):c.470-5G>A rs368292481 0.00003
NM_000501.4(ELN):c.*636G>A rs533779578
NM_000501.4(ELN):c.*659G>C rs8326
NM_000501.4(ELN):c.1096+12TG[16] rs10579871
NM_000501.4(ELN):c.1264G>A (p.Gly422Ser) rs2071307
NM_000501.4(ELN):c.1269C>T (p.Val423=) rs61734583
NM_000501.4(ELN):c.1741G>C (p.Gly581Arg) rs17855988

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.