ClinVar Miner

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

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001994.3(F13B):c.1152_1155dup (p.Pro386fs) rs748757906 0.00007
NM_001994.3(F13B):c.299_300insAAC (p.Tyr100Ter) rs779048554 0.00001
NM_001994.3(F13B):c.1349G>T (p.Cys450Phe) rs121913075
NM_001994.3(F13B):c.1498del (p.Glu500fs) rs797044453
NM_001994.3(F13B):c.565G>T (p.Gly189Ter) rs2125071982
NM_001994.3(F13B):c.65-2del rs748297201

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