ClinVar Miner

List of variants in gene ELP1 reported as likely benign by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 25
Download table as spreadsheet
HGVS dbSNP
NM_003640.4(ELP1):c.-534delC rs544672591
NM_003640.5(ELP1):c.*1071G>A rs41305457
NM_003640.5(ELP1):c.*1259C>G rs13299652
NM_003640.5(ELP1):c.*1260C>T rs13299651
NM_003640.5(ELP1):c.*392A>G rs10979577
NM_003640.5(ELP1):c.*861T>G rs74671462
NM_003640.5(ELP1):c.-126T>G rs2275640
NM_003640.5(ELP1):c.-301C>G rs2275641
NM_003640.5(ELP1):c.-71G>C rs2275639
NM_003640.5(ELP1):c.1574G>A (p.Arg525Gln) rs838827
NM_003640.5(ELP1):c.1926G>A (p.Thr642=) rs10979605
NM_003640.5(ELP1):c.1965C>T (p.Thr655=) rs2230791
NM_003640.5(ELP1):c.2294G>A (p.Gly765Glu) rs2230792
NM_003640.5(ELP1):c.2446A>C (p.Ile816Leu) rs2230793
NM_003640.5(ELP1):c.2490A>G (p.Ile830Met) rs2230794
NM_003640.5(ELP1):c.3037G>A (p.Gly1013Ser) rs2230795
NM_003640.5(ELP1):c.3069G>C (p.Leu1023=) rs1063110
NM_003640.5(ELP1):c.3214T>A (p.Cys1072Ser) rs3204145
NM_003640.5(ELP1):c.3285+9C>T rs2275495
NM_003640.5(ELP1):c.3473C>T (p.Pro1158Leu) rs1538660
NM_003640.5(ELP1):c.3492C>T (p.Asp1164=) rs79596285
NM_003640.5(ELP1):c.441G>A (p.Gln147=) rs2230788
NM_003640.5(ELP1):c.545T>A (p.Met182Lys) rs10521092
NM_003640.5(ELP1):c.741-15dup rs398102543
NM_003640.5(ELP1):c.819C>T (p.Leu273=) rs12340246

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.