ClinVar Miner

List of variants studied for factor XIII deficiency by ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000129.4(F13A1):c.1777G>A (p.Gly593Ser) rs138754417 0.00237
NM_000129.4(F13A1):c.1112+1G>A
NM_000129.4(F13A1):c.2150A>G (p.His717Arg)
NM_000129.4(F13A1):c.235A>T (p.Arg79Ter)
NM_000129.4(F13A1):c.723T>G (p.Tyr241Ter)
NM_001994.3(F13B):c.1079T>A (p.Val360Glu) rs2125068039

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