List of variants reported as likely pathogenic for Factor V deficiency

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000130.5(F5):c.2862del (p.Ser955fs)	rs765982916	0.00004
NM_000130.5(F5):c.1321C>T (p.Arg441Cys)	rs747006175	0.00002
NM_000130.5(F5):c.911G>A (p.Gly304Glu)	rs865947251	0.00002
NM_000130.5(F5):c.1674C>A (p.Tyr558Ter)	rs905672088	0.00001
NM_000130.5(F5):c.5408A>G (p.His1803Arg)	rs754104059	0.00001
NM_000130.5(F5):c.6179G>A (p.Gly2060Asp)	rs1384690038	0.00001
NM_000130.5(F5):c.6304C>T (p.Arg2102Cys)	rs118203910	0.00001
NM_000130.5(F5):c.1297-2A>G	rs762646464
NM_000130.5(F5):c.1498T>G (p.Cys500Gly)	rs1571581722
NM_000130.5(F5):c.1671G>C (p.Trp557Cys)	rs1571578995
NM_000130.5(F5):c.1673A>G (p.Tyr558Cys)
NM_000130.5(F5):c.1830_1831dup (p.His611fs)	rs1571577365
NM_000130.5(F5):c.2218C>T (p.Arg740Ter)	rs757953549
NM_000130.5(F5):c.2539del (p.Ile847fs)	rs1571575520
NM_000130.5(F5):c.3170_3174del (p.Asn1057fs)	rs1571574574
NM_000130.5(F5):c.3577del (p.Gln1192_Val1193insTer)	rs2101818861
NM_000130.5(F5):c.696C>A (p.Tyr232Ter)

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