ClinVar Miner

List of variants reported as likely pathogenic for congenital factor XIII deficiency by NIHR Bioresource Rare Diseases, University of Cambridge

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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NM_000129.3(F13A1):c.1777G>A (p.Gly593Ser) rs138754417
NM_000129.3(F13A1):c.1804C>T (p.Gln602Ter) rs757172838
NM_000129.3(F13A1):c.233G>T (p.Arg78Leu) rs768024997
NM_000129.3(F13A1):c.888C>G (p.Ser296Arg) rs778181928

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