ClinVar Miner

List of variants in gene F9 reported as benign for Hereditary factor IX deficiency disease

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000133.4(F9):c.*687G>A rs440051 0.24153
NM_000133.4(F9):c.580A>G (p.Thr194Ala) rs6048 0.22614
NM_000133.4(F9):c.391+7A>G rs6049 0.03872
NM_000133.4(F9):c.278-27A>G rs3134809 0.01152
NM_000133.4(F9):c.1095A>G (p.Ser365=) rs112057482 0.01021
NM_000133.4(F9):c.1110G>A (p.Gln370=) rs34698779 0.00833
NM_000133.4(F9):c.*606G>A rs191483077 0.00507
NM_000133.4(F9):c.1381A>C (p.Thr461Pro) rs4149751 0.00129
NM_000133.4(F9):c.391+10T>G rs375734226 0.00116
NM_000133.4(F9):c.1257G>T (p.Val419=) rs61731481 0.00100
NM_000133.4(F9):c.19A>T (p.Ile7Phe) rs150190385 0.00086
NM_000133.4(F9):c.*476C>A rs4149763 0.00052
NM_000133.4(F9):c.8G>A (p.Arg3His) rs148060786 0.00042
NM_000133.4(F9):c.51C>T (p.Ile17=) rs774612303 0.00011
NM_000133.4(F9):c.108C>T (p.Asn36=) rs184837275 0.00004
NM_000133.4(F9):c.712T>G (p.Phe238Val) rs143128467 0.00003
NM_000133.4(F9):c.109G>A (p.Ala37Thr) rs367569299 0.00001
NM_000133.4(F9):c.60A>G (p.Leu20=) rs762082146 0.00001
NM_000133.4(F9):c.1385A>G (p.Ter462=) rs561793582
NM_000133.4(F9):c.88+75A>G

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