ClinVar Miner

List of variants in gene ELP1 reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
Download table as spreadsheet
NM_003640.3(ELP1):c.2204+6T>C rs111033171
NM_003640.3(ELP1):c.2543C>A (p.Thr848Asn) rs10979599
NM_003640.4(ELP1):c.1144G>A (p.Gly382Arg) rs776167946
NM_003640.4(ELP1):c.1230G>A (p.Pro410=) rs41278359
NM_003640.4(ELP1):c.1461-2A>G rs866046915
NM_003640.4(ELP1):c.1704A>G (p.Ser568=) rs138192941
NM_003640.4(ELP1):c.1814A>G (p.Tyr605Cys) rs756919296
NM_003640.4(ELP1):c.208C>T (p.Arg70Cys) rs3737311
NM_003640.4(ELP1):c.2189G>A (p.Arg730Gln) rs374558203
NM_003640.4(ELP1):c.2217A>G (p.Lys739=) rs139583037
NM_003640.4(ELP1):c.2294G>A (p.Gly765Glu) rs2230792
NM_003640.4(ELP1):c.3152C>T (p.Thr1051Ile) rs747546817
NM_003640.4(ELP1):c.3280A>G (p.Arg1094Gly) rs146440397
NM_003640.5(ELP1):c.1886G>A (p.Arg629His) rs148378319
NM_003640.5(ELP1):c.312T>A (p.Cys104Ter) rs1291760879

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.