ClinVar Miner

List of variants reported as pathogenic for congenital factor XIII deficiency by OMIM

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP
F13A1, 1-BP INS, 1286C
F13A1, 2-BP DEL, 210AG
F13B, 1-BP DEL, IVS1AS, A, -2
F13B, 3-BP INS, AAC
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.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.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
NM_001994.2(F13B):c.1349G>T (p.Cys450Phe) rs121913075
NM_001994.2(F13B):c.1498del (p.Glu500fs) rs797044453

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