ClinVar Miner

List of variants in gene F13B reported as pathogenic for congenital factor XIII deficiency

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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F13B, 1-BP DEL, IVS1AS, A, -2
NM_001994.2(F13B):c.1349G>T (p.Cys450Phe) rs121913075
NM_001994.2(F13B):c.1498del (p.Glu500fs) rs797044453
NM_001994.3(F13B):c.565G>T (p.Gly189Ter)

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