ClinVar Miner

List of variants in gene F13A1 reported as pathogenic for congenital factor XIII deficiency

Included ClinVar conditions (3):
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Gene type:
ClinVar version:
Total variants: 22
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F13A1, 1-BP INS, 1286C
F13A1, 2-BP DEL, 210AG
NM_000129.3(F13A1):c.-19+12= rs2815822
NM_000129.3(F13A1):c.1243G>T (p.Val415Phe) rs121913070
NM_000129.3(F13A1):c.1326C>A (p.Tyr442Ter) rs121913066
NM_000129.3(F13A1):c.1504G>A (p.Gly502Arg) rs121913068
NM_000129.3(F13A1):c.1687G>A (p.Gly563Arg) rs121913069
NM_000129.3(F13A1):c.1817del (p.His606fs) rs1561641262
NM_000129.3(F13A1):c.183C>A (p.Asn61Lys) rs121913067
NM_000129.3(F13A1):c.1984C>T (p.Arg662Ter) rs267606789
NM_000129.3(F13A1):c.2045G>A (p.Arg682His) rs121913064
NM_000129.3(F13A1):c.2110C>T (p.Arg704Trp) rs267606787
NM_000129.3(F13A1):c.514C>T (p.Arg172Ter) rs121913065
NM_000129.3(F13A1):c.563G>T (p.Trp188Leu) rs1561673120
NM_000129.3(F13A1):c.728T>C (p.Met243Thr) rs267606788
NM_000129.3(F13A1):c.782G>A (p.Arg261His) rs121913071
NM_000129.3(F13A1):c.851A>G (p.Tyr284Cys) rs121913074
NM_000129.3(F13A1):c.949G>T (p.Val317Phe) rs121913073
NM_000129.3(F13A1):c.980G>A (p.Arg327Gln) rs121913072
NM_000129.4(F13A1):c.603_606del (p.Arg202fs) rs1416626948
NM_000129.4(F13A1):c.691-1G>A rs372296352

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