ClinVar Miner

List of variants in gene F8 reported as likely pathogenic by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Gene type:
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Total variants: 25
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HGVS dbSNP
NM_000132.3(F8):c.1443+5G>A rs1195283929
NM_000132.3(F8):c.1444-3C>G rs1603435027
NM_000132.3(F8):c.1538-18G>A rs1482306571
NM_000132.3(F8):c.1648C>G (p.Arg550Gly) rs137852417
NM_000132.3(F8):c.1778T>A (p.Ile593Asn) rs1557280964
NM_000132.3(F8):c.1952A>C (p.His651Pro) rs1569559758
NM_000132.3(F8):c.2161A>C (p.Met721Leu) rs1305924233
NM_000132.3(F8):c.219C>G (p.Phe73Leu) rs1603436770
NM_000132.3(F8):c.222G>A (p.Thr74=) rs1232517683
NM_000132.3(F8):c.377A>G (p.Lys126Arg) rs1603436639
NM_000132.3(F8):c.382T>C (p.Ser128Pro) rs1603436638
NM_000132.3(F8):c.5417C>T (p.Ser1806Phe) rs1569559523
NM_000132.3(F8):c.5422C>T (p.Leu1808Phe) rs137852445
NM_000132.3(F8):c.5527G>A (p.Ala1843Thr) rs1603432996
NM_000132.3(F8):c.5696T>C (p.Phe1899Ser) rs1486435006
NM_000132.3(F8):c.5815G>C (p.Ala1939Pro) rs1603432979
NM_000132.3(F8):c.5939A>G (p.His1980Arg) rs1569559516
NM_000132.3(F8):c.601G>A (p.Gly201Arg) rs1229954426
NM_000132.3(F8):c.606T>G (p.Ser202Arg) rs1603436217
NM_000132.3(F8):c.6278A>T (p.Asp2093Val) rs137852457
NM_000132.3(F8):c.6296T>A (p.Ile2099Asn) rs1603432784
NM_000132.3(F8):c.6320G>A (p.Gly2107Asp) rs1190705187
NM_000132.3(F8):c.6967C>G (p.Arg2323Gly) rs137852473
NM_000132.3(F8):c.83_87del (p.Ala28fs) rs1603437863
NM_000132.3(F8):c.877C>G (p.His293Asp) rs1569559881

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