ClinVar Miner

List of variants in gene BFSP1 reported as benign for cataract 33

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001195.5(BFSP1):c.957-83T>C rs6044850 0.51642
NM_001195.5(BFSP1):c.735+121G>T rs1016211 0.46631
NM_001195.5(BFSP1):c.1500G>A (p.Ala500=) rs6136118 0.27904
NM_001195.5(BFSP1):c.1926C>T (p.Thr642=) rs6080717 0.26382
NM_001195.5(BFSP1):c.1033G>A (p.Gly345Ser) rs6080719 0.20403
NM_001195.5(BFSP1):c.804C>T (p.Asn268=) rs11537702 0.05390
NM_001195.5(BFSP1):c.1968C>A (p.Asp656Glu) rs16999317 0.01485
NM_001195.5(BFSP1):c.1125G>T (p.Glu375Asp) rs139124891 0.01147
NM_001195.5(BFSP1):c.46G>C (p.Glu16Gln) rs200899362 0.01003
NM_001195.5(BFSP1):c.137G>C (p.Gly46Ala) rs143850362 0.00985
NM_001195.5(BFSP1):c.736-16G>A rs76806936 0.00427
NM_001195.5(BFSP1):c.887C>T (p.Ala296Val) rs142996076 0.00285
NM_001195.5(BFSP1):c.1995_1996del (p.Ter666LysextTer?) rs548358901 0.00264
NM_001195.5(BFSP1):c.762A>G (p.Lys254=) rs35042144 0.00210
NM_001195.5(BFSP1):c.1148A>G (p.Asn383Ser) rs150798461 0.00099
NM_001195.5(BFSP1):c.675G>A (p.Leu225=) rs140834233 0.00064
NM_001195.5(BFSP1):c.106_107delinsTT (p.Ala36Phe) rs886038419
NM_001195.5(BFSP1):c.1332A>G (p.Leu444=)
NM_001195.5(BFSP1):c.1749A>G (p.Pro583=) rs6080718
NM_001195.5(BFSP1):c.1749A>T (p.Pro583=) rs6080718
NM_001195.5(BFSP1):c.535-42G>A rs1559956

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.