ClinVar Miner

List of variants reported as benign for congenital factor XIII deficiency

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP
NM_000129.3(F13A1):c.*126T>C rs1050782
NM_000129.3(F13A1):c.*160G>A rs1050783
NM_000129.3(F13A1):c.*221G>A rs3024464
NM_000129.3(F13A1):c.*743G>A rs12862
NM_000129.3(F13A1):c.*89A>G rs3024462
NM_000129.3(F13A1):c.*995G>T rs3024466
NM_000129.3(F13A1):c.-19+12A>C rs2815822
NM_000129.3(F13A1):c.103G>T (p.Val35Leu) rs5985
NM_000129.3(F13A1):c.1694C>T (p.Pro565Leu) rs5982
NM_000129.3(F13A1):c.1951G>A (p.Val651Ile) rs5987
NM_000129.3(F13A1):c.1954G>C (p.Glu652Gln) rs5988
NM_000129.3(F13A1):c.996A>C (p.Pro332=) rs5981
NM_001994.2(F13B):c.*143G>A rs698859
NM_001994.2(F13B):c.1806T>C (p.Asn602=) rs5998
NM_001994.2(F13B):c.344G>A (p.Arg115His) rs6003
NM_001994.2(F13B):c.456A>G (p.Thr152=) rs5997

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