ClinVar Miner

List of variants in gene FGA reported as pathogenic for coagulation protein disease

Included ClinVar conditions (68):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_021871.4(FGA):c.510+1G>T rs146387238 0.00009
NM_021871.4(FGA):c.502C>T (p.Arg168Ter) rs755117226 0.00002
NM_000508.3(FGA):c.103C>T (p.Arg35Cys) rs121909606 0.00001
NM_021871.4(FGA):c.104G>A (p.Arg35His) rs121909607 0.00001
NM_021871.4(FGA):c.1634A>T (p.Glu545Val) rs121909612 0.00001
NM_021871.4(FGA):c.532C>T (p.Arg178Ter) rs140911890 0.00001
NC_000004.11:g.(?_155506411)_(155510715_155511785)del
NC_000004.11:g.(?_155506426)_(155511895_?)del
NC_000004.12:g.(154580323_154580329)_(154590210_154590216)del
NM_000508.5(FGA):c.2155del (p.Gln719fs) rs2110806028
NM_021871.4(FGA):c.117del (p.Val40fs) rs762964798
NM_021871.4(FGA):c.448C>T (p.Gln150Ter) rs763715993
NM_021871.4(FGA):c.711dup (p.Lys238Ter) rs606231225
NM_021871.4(FGA):c.811C>T (p.Arg271Ter) rs1578796476

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.