ClinVar Miner

List of variants in gene BCS1L studied for Inborn genetic diseases

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001079866.2(BCS1L):c.205C>T (p.Arg69Cys) rs377025174 0.00011
NM_001079866.2(BCS1L):c.696del (p.Gly233fs) rs775388576 0.00001
NM_001079866.2(BCS1L):c.1030C>A (p.Pro344Thr)
NM_001079866.2(BCS1L):c.1232T>G (p.Ile411Ser)
NM_001079866.2(BCS1L):c.320+1G>T rs386833856
NM_001079866.2(BCS1L):c.326G>A (p.Arg109Gln)
NM_001079866.2(BCS1L):c.331A>C (p.Lys111Gln)
NM_001079866.2(BCS1L):c.418del (p.Leu140fs) rs1057517412
NM_001079866.2(BCS1L):c.461C>A (p.Ala154Asp)
NM_001079866.2(BCS1L):c.752T>C (p.Ile251Thr)
NM_001079866.2(BCS1L):c.785_786del (p.Leu261_Ser262insTer) rs1553597538
NM_001079866.2(BCS1L):c.95C>T (p.Ala32Val)

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.