ClinVar Miner

List of variants reported as likely pathogenic for Factor V deficiency

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Total variants: 14
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HGVS dbSNP
NM_000130.4(F5):c.1297-2A>G rs762646464
NM_000130.4(F5):c.1321C>T (p.Arg441Cys) rs747006175
NM_000130.4(F5):c.1498T>G (p.Cys500Gly) rs1571581722
NM_000130.4(F5):c.1671G>C (p.Trp557Cys) rs1571578995
NM_000130.4(F5):c.1830_1831dup (p.His611fs) rs1571577365
NM_000130.4(F5):c.2218C>T (p.Arg740Ter) rs757953549
NM_000130.4(F5):c.2539del (p.Ile847fs) rs1571575520
NM_000130.4(F5):c.2862del (p.Ser955fs) rs765982916
NM_000130.4(F5):c.3170_3174del (p.Asn1057fs) rs1571574574
NM_000130.4(F5):c.5408A>G (p.His1803Arg) rs754104059
NM_000130.4(F5):c.6304C>T (p.Arg2102Cys) rs118203910
NM_000130.4(F5):c.911G>A (p.Gly304Glu) rs865947251
NM_000130.5(F5):c.1674C>A (p.Tyr558Ter) rs905672088
NM_000130.5(F5):c.3577del (p.Gln1192_Val1193insTer)

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