ClinVar Miner

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

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000129.4(F13A1):c.1777G>A (p.Gly593Ser) rs138754417 0.00230
NM_000129.4(F13A1):c.691-1G>A rs372296352 0.00005
NM_000129.4(F13A1):c.1112+1G>A rs1757202231
NM_000129.4(F13A1):c.1352_1353del (p.His451fs) rs1561645895
NM_000129.4(F13A1):c.1804C>T (p.Gln602Ter) rs757172838
NM_000129.4(F13A1):c.1914_1915del (p.Gly639fs) rs2480490515
NM_000129.4(F13A1):c.2071C>T (p.Gln691Ter)
NM_000129.4(F13A1):c.2110C>T (p.Arg704Trp) rs267606787
NM_000129.4(F13A1):c.233G>T (p.Arg78Leu) rs768024997
NM_000129.4(F13A1):c.235A>T (p.Arg79Ter) rs2480385304
NM_000129.4(F13A1):c.669del (p.Arg224fs) rs2480651992
NM_000129.4(F13A1):c.723T>G (p.Tyr241Ter) rs1176119481
NM_000129.4(F13A1):c.820G>C (p.Gly274Arg) rs2480618478
NM_000129.4(F13A1):c.888C>G (p.Ser296Arg) rs778181928
NM_000129.4(F13A1):c.937G>C (p.Gly313Arg) rs2480618246
NM_000129.4(F13A1):c.979C>T (p.Arg327Ter)

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