ClinVar Miner

List of variants reported as benign for Amish lethal microcephaly by Genome-Nilou Lab

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001126121.2(SLC25A19):c.289-26G>A rs4788882 0.99292
NM_001126121.2(SLC25A19):c.339T>C (p.Tyr113=) rs7213318 0.93495
NM_001126121.2(SLC25A19):c.*2T>C rs1809352 0.87805
NM_001126121.2(SLC25A19):c.819G>A (p.Leu273=) rs4789164 0.52943

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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.