ClinVar Miner

List of variants reported as likely benign for Buschke-Ollendorff syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP
NM_014319.5(LEMD3):c.1063C>T (p.Pro355Ser) rs202161021
NM_014319.5(LEMD3):c.1099C>T (p.Leu367Phe)
NM_014319.5(LEMD3):c.1205C>T (p.Ser402Phe)
NM_014319.5(LEMD3):c.1304C>A (p.Thr435Asn)
NM_014319.5(LEMD3):c.1330C>G (p.Pro444Ala) rs144127577
NM_014319.5(LEMD3):c.1350A>G (p.Glu450=) rs145116568
NM_014319.5(LEMD3):c.1393A>G (p.Thr465Ala)
NM_014319.5(LEMD3):c.2098C>T (p.Arg700Cys)
NM_014319.5(LEMD3):c.2331A>C (p.Ser777=) rs146896083
NM_014319.5(LEMD3):c.39G>A (p.Ser13=) rs373288363
NM_014319.5(LEMD3):c.750C>T (p.Val250=) rs148964879
NM_014319.5(LEMD3):c.907G>T (p.Gly303Cys) rs35221558

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.