ClinVar Miner

List of variants in gene F8 reported as likely pathogenic

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Gene type:
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Total variants: 71
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HGVS dbSNP
NC_000023.11:g.154931533_154938436del
NM_000132.3(F8):c.1034T>C (p.Val345Ala) rs1189348665
NM_000132.3(F8):c.1073dup (p.Asn358fs) rs1603435281
NM_000132.3(F8):c.1093T>C (p.Tyr365His) rs782216863
NM_000132.3(F8):c.143G>A (p.Arg48Lys) rs1261929809
NM_000132.3(F8):c.1443+5G>A rs1195283929
NM_000132.3(F8):c.1444-3C>G rs1603435027
NM_000132.3(F8):c.1468A>G (p.Arg490Gly) rs1603435026
NM_000132.3(F8):c.1538-18G>A rs1482306571
NM_000132.3(F8):c.1648C>G (p.Arg550Gly) rs137852417
NM_000132.3(F8):c.1654T>C (p.Tyr552His) rs1603434863
NM_000132.3(F8):c.1660A>G (p.Ser554Gly) rs137852419
NM_000132.3(F8):c.1700T>C (p.Ile567Thr) rs782193428
NM_000132.3(F8):c.1748A>G (p.Asn583Ser) rs782657516
NM_000132.3(F8):c.1778T>A (p.Ile593Asn) rs1557280964
NM_000132.3(F8):c.1804C>G (p.Arg602Gly) rs137852424
NM_000132.3(F8):c.1835G>T (p.Arg612Leu) rs782473762
NM_000132.3(F8):c.1894del (p.Ile632fs) rs1603434698
NM_000132.3(F8):c.1898T>G (p.Met633Arg) rs1603434697
NM_000132.3(F8):c.1952A>C (p.His651Pro) rs1569559758
NM_000132.3(F8):c.2099C>T (p.Ser700Leu) rs1359096117
NM_000132.3(F8):c.2149C>T (p.Arg717Trp) rs137852435
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.3144G>A (p.Trp1048Ter) rs1060499784
NM_000132.3(F8):c.3169G>A (p.Glu1057Lys) rs28933673
NM_000132.3(F8):c.3245_3246AT[1] (p.Met1083fs) rs1603433803
NM_000132.3(F8):c.3637del (p.Ile1213fs) rs387906450
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.4313dup (p.Ser1439fs) rs1603433756
NM_000132.3(F8):c.460A>C (p.Thr154Pro) rs1603436436
NM_000132.3(F8):c.4767_4768insATAACCAA (p.Tyr1590fs) rs886039906
NM_000132.3(F8):c.5217C>T (p.Asn1739=) rs1603433715
NM_000132.3(F8):c.5219+2T>C rs1603433713
NM_000132.3(F8):c.5303G>A (p.Arg1768His) rs151202877
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.5530C>T (p.Pro1844Ser) rs28933675
NM_000132.3(F8):c.558C>A (p.Asp186Glu) rs1603436426
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.5896A>C (p.Met1966Leu) rs1603432970
NM_000132.3(F8):c.5939A>G (p.His1980Arg) rs1569559516
NM_000132.3(F8):c.599A>G (p.Glu200Gly) rs782158761
NM_000132.3(F8):c.601G>A (p.Gly201Arg) rs1229954426
NM_000132.3(F8):c.605G>A (p.Ser202Asn) rs1603436218
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.6301C>G (p.His2101Asp) rs1603432783
NM_000132.3(F8):c.6320G>A (p.Gly2107Asp) rs1190705187
NM_000132.3(F8):c.6437T>C (p.Phe2146Ser) rs1603431561
NM_000132.3(F8):c.6533G>A (p.Arg2178His) rs137852465
NM_000132.3(F8):c.6592G>A (p.Gly2198Arg) rs1603431512
NM_000132.3(F8):c.6623A>G (p.Gln2208Arg) rs782198570
NM_000132.3(F8):c.671-50_787+50del rs1603436123
NM_000132.3(F8):c.6776T>A (p.Val2259Asp) rs1603431479
NM_000132.3(F8):c.6920A>C (p.Asp2307Ala) rs1603430929
NM_000132.3(F8):c.6932C>A (p.Pro2311His) rs1047644991
NM_000132.3(F8):c.6967C>G (p.Arg2323Gly) rs137852473
NM_000132.3(F8):c.6977G>A (p.Arg2326Gln) rs137852360
NM_000132.3(F8):c.7031G>A (p.Gly2344Asp) rs1557271042
NM_000132.3(F8):c.733C>T (p.Arg245Trp) rs781943956
NM_000132.3(F8):c.83_87del (p.Ala28fs) rs1603437863
NM_000132.3(F8):c.877C>G (p.His293Asp) rs1569559881
NM_000132.3(F8):c.984T>G (p.Phe328Leu) rs782668199
NM_000132.4(F8):c.5587-93C>T
Single allele

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