ClinVar Miner

List of variants in gene F8 reported as likely pathogenic for Hereditary factor IX deficiency disease

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_000132.4(F8):c.1700T>C (p.Ile567Thr) rs782193428 0.00003
NM_000132.4(F8):c.733C>T (p.Arg245Trp) rs781943956 0.00003
NM_000132.4(F8):c.1093T>C (p.Tyr365His) rs782216863 0.00002
NM_000132.4(F8):c.6533G>A (p.Arg2178His) rs137852465 0.00001
NM_000132.4(F8):c.1034T>C (p.Val345Ala) rs1189348665
NM_000132.4(F8):c.1073dup (p.Asn358fs) rs1603435281
NM_000132.4(F8):c.143G>A (p.Arg48Lys) rs1261929809
NM_000132.4(F8):c.1654T>C (p.Tyr552His) rs1603434863
NM_000132.4(F8):c.1894del (p.Ile632fs) rs1603434698
NM_000132.4(F8):c.1898T>G (p.Met633Arg) rs1603434697
NM_000132.4(F8):c.2099C>T (p.Ser700Leu) rs1359096117
NM_000132.4(F8):c.3247_3248del (p.Met1083fs) rs1603433803
NM_000132.4(F8):c.3637del (p.Ile1213fs) rs387906450
NM_000132.4(F8):c.4313dup (p.Ser1439fs) rs1603433756
NM_000132.4(F8):c.460A>C (p.Thr154Pro) rs1603436436
NM_000132.4(F8):c.5217C>T (p.Asn1739=) rs1603433715
NM_000132.4(F8):c.5219+2T>C rs1603433713
NM_000132.4(F8):c.5530C>T (p.Pro1844Ser) rs28933675
NM_000132.4(F8):c.558C>A (p.Asp186Glu) rs1603436426
NM_000132.4(F8):c.5896A>C (p.Met1966Leu) rs1603432970
NM_000132.4(F8):c.6437T>C (p.Phe2146Ser) rs1603431561
NM_000132.4(F8):c.6592G>A (p.Gly2198Arg) rs1603431512
NM_000132.4(F8):c.671-50_787+50del rs1603436123
NM_000132.4(F8):c.6776T>A (p.Val2259Asp) rs1603431479
NM_000132.4(F8):c.6920A>C (p.Asp2307Ala) rs1603430929
Single allele

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