ClinVar Miner

List of variants studied for bleeding disorder, platelet-type, 21 by ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology

Included ClinVar conditions (1):
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_002017.5(FLI1):c.74C>T (p.Ala25Val) rs200865469 0.00110
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.812G>A (p.Ser271Asn) rs2135922425
NM_002017.5(FLI1):c.844C>T (p.Gln282Ter)
NM_002017.5(FLI1):c.946G>T (p.Glu316Ter) rs2135925063
Single allele

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