ClinVar Miner

List of variants in gene FH reported as benign for Fumarase deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
Download table as spreadsheet
HGVS dbSNP
NM_000143.3(FH):c.105G>A (p.Ser35=) rs181655698
NM_000143.3(FH):c.1077T>A (p.Pro359=) rs750535216
NM_000143.3(FH):c.122C>T (p.Ala41Val) rs201486221
NM_000143.3(FH):c.1236+14C>T rs149241949
NM_000143.3(FH):c.1237-14_1237-9dup rs779985493
NM_000143.3(FH):c.1302C>T (p.Cys434=) rs2070080
NM_000143.3(FH):c.309C>T (p.Ala103=) rs10926501
NM_000143.3(FH):c.379-12dup rs761444069
NM_000143.3(FH):c.53C>T (p.Pro18Leu) rs201887750
NM_000143.3(FH):c.6C>T (p.Tyr2=) rs199971078
NM_000143.3(FH):c.702T>G (p.Thr234=) rs201083387
NM_000143.3(FH):c.739-10T>C rs201971572
NM_000143.3(FH):c.77C>T (p.Pro26Leu) rs187226800
NM_000143.3(FH):c.927G>A (p.Pro309=) rs61737760
NM_000143.4(FH):c.1237-50TC[20] rs144131869
NM_000143.4(FH):c.1299C>T (p.Asn433=) rs201994824

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.