ClinVar Miner

List of variants in gene F2 reported as uncertain significance for congenital vitamin K-dependent coagulation factors deficiency

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 31
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HGVS dbSNP
NC_000011.10:g.46739508C>A
NM_000506.3(F2):c.598G>A (p.Glu200Lys) rs62623459
NM_000506.4(F2):c.*44G>T rs759287343
NM_000506.4(F2):c.1464G>A (p.Thr488=) rs146742525
NM_000506.4(F2):c.1472+9C>T rs886048336
NM_000506.4(F2):c.1541A>G (p.Asn514Ser) rs144011338
NM_000506.4(F2):c.1567C>T (p.Leu523=) rs886048337
NM_000506.4(F2):c.1621C>A (p.Arg541=) rs886048338
NM_000506.4(F2):c.1815T>C (p.His605=) rs368442575
NM_000506.4(F2):c.317-4G>A rs375713715
NM_000506.4(F2):c.45G>A (p.Leu15=) rs886048333
NM_000506.4(F2):c.559+5G>A rs376151472
NM_000506.4(F2):c.730G>T (p.Ala244Ser) rs886048334
NM_000506.4(F2):c.882C>T (p.Ala294=) rs370819135
NM_000506.4(F2):c.915G>A (p.Glu305=) rs886048335
NM_000506.4(F2):c.978G>A (p.Pro326=) rs142949009
NM_000506.4(F2):c.992C>T (p.Ser331Leu) rs200812621
NM_000506.5(F2):c.*97G>A rs1799963
NM_000506.5(F2):c.*9T>G
NM_000506.5(F2):c.1037C>T (p.Ser346Leu)
NM_000506.5(F2):c.1131-5C>T
NM_000506.5(F2):c.1598G>A (p.Arg533Gln)
NM_000506.5(F2):c.191C>T (p.Thr64Met)
NM_000506.5(F2):c.234G>A (p.Thr78=)
NM_000506.5(F2):c.285G>A (p.Thr95=)
NM_000506.5(F2):c.371G>A (p.Arg124Gln)
NM_000506.5(F2):c.495G>A (p.Thr165=) rs144857547
NM_000506.5(F2):c.607A>G (p.Ser203Gly)
NM_000506.5(F2):c.814G>A (p.Val272Met)
NM_000506.5(F2):c.874+13G>A
NM_000506.5(F2):c.954T>G (p.Ser318Arg)

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