List of variants in gene FLI1 studied for blood platelet disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_002017.5(FLI1):c.74C>T (p.Ala25Val)	rs200865469	0.00110
NM_002017.5(FLI1):c.1009C>T (p.Arg337Trp)	rs1064797083
NM_002017.5(FLI1):c.1010G>A (p.Arg337Gln)	rs1064797086
NM_002017.5(FLI1):c.1019G>C (p.Arg340Pro)	rs1131691896
NM_002017.5(FLI1):c.1028A>G (p.Tyr343Cys)	rs1064797084
NM_002017.5(FLI1):c.1033A>G (p.Lys345Glu)	rs1064797087
NM_002017.5(FLI1):c.203G>T (p.Arg68Leu)	rs201118331
NM_002017.5(FLI1):c.812G>A (p.Ser271Asn)	rs2135922425
NM_002017.5(FLI1):c.844C>T (p.Gln282Ter)
NM_002017.5(FLI1):c.852G>T (p.Trp284Cys)	rs1942909159
NM_002017.5(FLI1):c.946G>T (p.Glu316Ter)	rs2135925063
NM_002017.5(FLI1):c.970C>T (p.Arg324Trp)	rs773148506
NM_002017.5(FLI1):c.992_995del (p.Asn331fs)	rs1064797085
Single allele

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.