List of variants in gene F13A1 reported as likely pathogenic for Factor XIII, A subunit, deficiency of

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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: 12

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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.1352_1353del (p.His451fs)	rs1561645895
NM_000129.4(F13A1):c.1804C>T (p.Gln602Ter)	rs757172838
NM_000129.4(F13A1):c.1914_1915del (p.Gly639fs)
NM_000129.4(F13A1):c.233G>T (p.Arg78Leu)	rs768024997
NM_000129.4(F13A1):c.235A>T (p.Arg79Ter)
NM_000129.4(F13A1):c.669del (p.Arg224fs)
NM_000129.4(F13A1):c.723T>G (p.Tyr241Ter)
NM_000129.4(F13A1):c.820G>C (p.Gly274Arg)
NM_000129.4(F13A1):c.888C>G (p.Ser296Arg)	rs778181928
NM_000129.4(F13A1):c.937G>C (p.Gly313Arg)

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