List of variants in gene F9 reported as pathogenic by Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000133.4(F9):c.1150C>T (p.Arg384Ter)	rs137852261	0.00001
NM_000133.4(F9):c.571C>T (p.Arg191Cys)	rs137852237	0.00001
NM_000133.4(F9):c.572G>A (p.Arg191His)	rs137852238	0.00001
NM_000133.4(F9):c.1135C>T (p.Arg379Ter)	rs137852258
NM_000133.4(F9):c.142A>T (p.Asn48Tyr)	rs1927493197
NM_000133.4(F9):c.214G>T (p.Glu72Ter)	rs1927498635
NM_000133.4(F9):c.252+5G>A	rs1266788575
NM_000133.4(F9):c.277+1G>A	rs1224128266
NM_000133.4(F9):c.401G>C (p.Cys134Ser)	rs1927764839
NM_000133.4(F9):c.484C>T (p.Arg162Ter)	rs137852272
NM_000133.4(F9):c.88+5_88+8del	rs1603263399
NM_000133.4(F9):c.881G>A (p.Arg294Gln)	rs137852249
NM_000133.4(F9):c.887T>A (p.Val296Glu)	rs1371397743

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