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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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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