ClinVar Miner

List of variants in gene F13A1 reported as benign for coagulation protein disease

Included ClinVar conditions (68):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000129.4(F13A1):c.1747+27C>G rs380058 0.98624
NM_000129.4(F13A1):c.-19+12A>C rs2815822 0.88252
NM_000129.4(F13A1):c.*126T>C rs1050782 0.52358
NM_000129.4(F13A1):c.1217-23C>T rs5978 0.26684
NM_000129.4(F13A1):c.103G>T (p.Val35Leu) rs5985 0.22002
NM_000129.4(F13A1):c.1954G>C (p.Glu652Gln) rs5988 0.21467
NM_000129.4(F13A1):c.1909-29G>C rs2274394 0.21456
NM_000129.4(F13A1):c.1694C>T (p.Pro565Leu) rs5982 0.18893
NM_000129.4(F13A1):c.*160G>A rs1050783 0.18575
NM_000129.4(F13A1):c.996A>C (p.Pro332=) rs5981 0.15230
NM_000129.4(F13A1):c.*995G>T rs3024466 0.13914
NM_000129.4(F13A1):c.1217-24C>T rs5977 0.12083
NM_000129.4(F13A1):c.1704A>G (p.Glu568=) rs5986 0.07753
NM_000129.4(F13A1):c.1951G>A (p.Val651Ile) rs5987 0.05207
NM_000129.4(F13A1):c.*89A>G rs3024462 0.04627
NM_000129.4(F13A1):c.*743G>A rs12862 0.04625
NM_000129.4(F13A1):c.*221G>A rs3024464 0.04624

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