ClinVar Miner

List of variants in gene F5 reported as likely pathogenic for coagulation protein disease

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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NM_000130.4(F5):c.1321C>T (p.Arg441Cys) rs747006175
NM_000130.4(F5):c.1498T>G (p.Cys500Gly)
NM_000130.4(F5):c.1671G>C (p.Trp557Cys)
NM_000130.4(F5):c.1830_1831dup (p.His611fs)
NM_000130.4(F5):c.2218C>T (p.Arg740Ter) rs757953549
NM_000130.4(F5):c.2539del (p.Ile847fs)
NM_000130.4(F5):c.2862del (p.Ser955fs)
NM_000130.4(F5):c.3170_3174del (p.Asn1057fs)
NM_000130.4(F5):c.5408A>G (p.His1803Arg)
NM_000130.4(F5):c.6304C>T (p.Arg2102Cys) rs118203910
NM_000130.4(F5):c.911G>A (p.Gly304Glu)
NM_000130.5(F5):c.1674C>A (p.Tyr558Ter)

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