List of variants reported as pathogenic for congenital factor XIII deficiency

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Total variants: 32

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HGVS	dbSNP	gnomAD frequency
NM_000129.4(F13A1):c.-19+12=	rs2815822	0.11748
NM_000129.4(F13A1):c.1984C>T (p.Arg662Ter)	rs267606789	0.00032
NM_001994.3(F13B):c.1152_1155dup (p.Pro386fs)	rs748757906	0.00007
NM_000129.4(F13A1):c.691-1G>A	rs372296352	0.00005
NM_000129.4(F13A1):c.1504G>A (p.Gly502Arg)	rs121913068	0.00004
NM_000129.4(F13A1):c.980G>A (p.Arg327Gln)	rs121913072	0.00002
NM_000129.4(F13A1):c.1687G>A (p.Gly563Arg)	rs121913069	0.00001
NM_000129.4(F13A1):c.2045G>A (p.Arg682His)	rs121913064	0.00001
NM_000129.4(F13A1):c.949G>T (p.Val317Phe)	rs121913073	0.00001
NM_001994.3(F13B):c.299_300insAAC (p.Tyr100Ter)	rs779048554	0.00001
NM_000129.4(F13A1):c.1201dup (p.Gln401fs)	rs1290008988
NM_000129.4(F13A1):c.1243G>T (p.Val415Phe)	rs121913070
NM_000129.4(F13A1):c.131_132del	rs2113184331
NM_000129.4(F13A1):c.1326C>A (p.Tyr442Ter)	rs121913066
NM_000129.4(F13A1):c.1405_1408del (p.Gln469fs)	rs1760997136
NM_000129.4(F13A1):c.1817del (p.His606fs)	rs1561641262
NM_000129.4(F13A1):c.183C>A (p.Asn61Lys)	rs121913067
NM_000129.4(F13A1):c.2110C>T (p.Arg704Trp)	rs267606787
NM_000129.4(F13A1):c.232C>T (p.Arg78Cys)
NM_000129.4(F13A1):c.27del (p.Phe9fs)	rs763797788
NM_000129.4(F13A1):c.460_461insGC (p.Ile154fs)	rs2113123881
NM_000129.4(F13A1):c.514C>T (p.Arg172Ter)	rs121913065
NM_000129.4(F13A1):c.563G>T (p.Trp188Leu)	rs1561673120
NM_000129.4(F13A1):c.603_606del (p.Arg202fs)	rs1416626948
NM_000129.4(F13A1):c.728T>C (p.Met243Thr)	rs267606788
NM_000129.4(F13A1):c.782G>A (p.Arg261His)	rs121913071
NM_000129.4(F13A1):c.798+2T>C	rs1757581465
NM_000129.4(F13A1):c.851A>G (p.Tyr284Cys)	rs121913074
NM_001994.3(F13B):c.1349G>T (p.Cys450Phe)	rs121913075
NM_001994.3(F13B):c.1498del (p.Glu500fs)	rs797044453
NM_001994.3(F13B):c.565G>T (p.Gly189Ter)	rs2125071982
NM_001994.3(F13B):c.65-2del	rs748297201

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