ClinVar Miner

List of variants in gene F2 reported as benign for Congenital prothrombin deficiency

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Gene type:
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000506.5(F2):c.494C>T (p.Thr165Met) rs5896 0.13207
NM_000506.5(F2):c.1233G>A (p.Pro411=) rs5898 0.06671
NM_000506.5(F2):c.480C>T (p.Pro160=) rs3136452 0.04324
NM_000506.5(F2):c.79+7G>A rs3136431 0.02419
NM_000506.5(F2):c.1602G>A (p.Pro534=) rs5900 0.01567
NM_000506.5(F2):c.813C>T (p.Gly271=) rs5899 0.00654
NM_000506.5(F2):c.1824C>T (p.Arg608=) rs3136532 0.00472
NM_000506.5(F2):c.1857G>A (p.Gln619=) rs113406770 0.00300
NM_000506.5(F2):c.1298+11G>C rs144587241 0.00191
NM_000506.5(F2):c.1628G>T (p.Arg543Leu) rs143064939 0.00121
NM_000506.5(F2):c.843C>T (p.Gly281=) rs147699032 0.00076
NM_000506.5(F2):c.798C>T (p.Asp266=) rs138260543 0.00019
NM_000506.5(F2):c.1003+18C>T
NM_000506.5(F2):c.423-7G>C rs2070852
NM_000506.5(F2):c.559+20G>T
NM_000506.5(F2):c.80-13del
NM_000506.5(F2):c.80-13dup
NM_000506.5(F2):c.875-19G>A

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