ClinVar Miner

List of variants in gene FLI1 reported as pathogenic for bleeding disorder, platelet-type, 21

Included ClinVar conditions (1):
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Total variants: 8
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HGVS dbSNP gnomAD frequency
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.1028A>G (p.Tyr343Cys) rs1064797084
NM_002017.5(FLI1):c.1033A>G (p.Lys345Glu) rs1064797087
NM_002017.5(FLI1):c.844C>T (p.Gln282Ter)
NM_002017.5(FLI1):c.970C>T (p.Arg324Trp) rs773148506
NM_002017.5(FLI1):c.992_995del (p.Asn331fs) rs1064797085
Single allele

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