ClinVar Miner

List of variants in gene F8 studied for Thrombophilia, X-linked, due to factor 8 defect

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_000132.4(F8):c.1018G>A (p.Glu340Lys) rs781954986 0.00019
NM_000132.4(F8):c.396A>C (p.Glu132Asp) rs137852388 0.00018
NM_000132.4(F8):c.2887G>A (p.Asp963Asn) rs199660138 0.00017
NM_000132.4(F8):c.3836G>A (p.Arg1279Lys) rs139451429 0.00017
NM_000132.4(F8):c.3169G>A (p.Glu1057Lys) rs28933673 0.00014
NM_000132.4(F8):c.6951C>G (p.Asp2317Glu) rs782799573 0.00011
NM_000132.4(F8):c.1337G>A (p.Arg446Gln) rs781889613 0.00010
NM_000132.4(F8):c.6089G>A (p.Ser2030Asn) rs369414658 0.00009
NM_000132.4(F8):c.5291A>G (p.Gln1764Arg) rs374988541 0.00007
NM_000132.4(F8):c.3701A>T (p.His1234Leu) rs145507297 0.00006
NM_000132.4(F8):c.4531G>A (p.Val1511Ile) rs186353717 0.00006
NM_000132.4(F8):c.121G>T (p.Gly41Cys) rs137852379 0.00005
NM_000132.4(F8):c.2150G>A (p.Arg717Gln) rs942909873 0.00005
NM_000132.4(F8):c.2840C>G (p.Pro947Arg) rs782318401 0.00005
NM_000132.4(F8):c.4828G>T (p.Ala1610Ser) rs782127226 0.00004
NM_000132.4(F8):c.6067G>A (p.Glu2023Lys) rs781886601 0.00004
NM_000132.4(F8):c.4099A>T (p.Thr1367Ser) rs781812149 0.00003
NM_000132.4(F8):c.5144G>A (p.Arg1715Gln) rs781876217 0.00003
NM_000132.4(F8):c.5806C>T (p.Arg1936Cys) rs781792644 0.00003
NM_000132.4(F8):c.733C>T (p.Arg245Trp) rs781943956 0.00003
NM_000132.4(F8):c.1030A>C (p.Lys344Gln) rs782395704 0.00002
NM_000132.4(F8):c.2149C>T (p.Arg717Trp) rs137852435 0.00002
NM_000132.4(F8):c.5381T>A (p.Phe1794Tyr) rs782123880 0.00002
NM_000132.4(F8):c.5999-11G>A rs782132907 0.00002
NM_000132.4(F8):c.6544C>T (p.Arg2182Cys) rs137852467 0.00002
NM_000132.4(F8):c.1834C>T (p.Arg612Cys) rs137852428 0.00001
NM_000132.4(F8):c.3986G>A (p.Arg1329His) rs782767347 0.00001
NM_000132.4(F8):c.5976G>A (p.Met1992Ile) rs782510443 0.00001
NM_000132.4(F8):c.6304G>A (p.Gly2102Ser) rs200433372 0.00001
NG_011403.2:g.2731_26150dup
NM_000132.4(F8):c.1264G>C (p.Asp422His) rs370737113
NM_000132.4(F8):c.1336C>T (p.Arg446Ter) rs137852372
NM_000132.4(F8):c.1752+5G>T rs2124094299
NM_000132.4(F8):c.2113+461_2113+473del rs781928603
NM_000132.4(F8):c.323A>C (p.Lys108Thr) rs137852384
NM_000132.4(F8):c.5703C>A (p.Ile1901=) rs782721473

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