ClinVar Miner

List of variants in gene F8 reported as likely pathogenic for not provided

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Gene type:
ClinVar version:
Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_000132.4(F8):c.222G>A (p.Thr74=) rs1232517683 0.00011
NM_000132.4(F8):c.5144G>A (p.Arg1715Gln) rs781876217 0.00003
NM_000132.4(F8):c.733C>T (p.Arg245Trp) rs781943956 0.00003
NM_000132.4(F8):c.2149C>T (p.Arg717Trp) rs137852435 0.00002
NM_000132.4(F8):c.5123G>A (p.Arg1708His) rs111033614 0.00002
NM_000132.4(F8):c.602-11T>C rs782681643 0.00002
NM_000132.4(F8):c.1373G>A (p.Arg458His) rs782052307 0.00001
NM_000132.4(F8):c.1660A>G (p.Ser554Gly) rs137852419 0.00001
NM_000132.4(F8):c.5063C>T (p.Ser1688Leu) rs782235155 0.00001
NM_000132.4(F8):c.5976G>A (p.Met1992Ile) rs782510443 0.00001
NM_000132.4(F8):c.6047G>A (p.Arg2016Gln) rs1444225681 0.00001
NM_000132.4(F8):c.6371A>G (p.Tyr2124Cys) rs137852459 0.00001
NM_000132.4(F8):c.6622C>G (p.Gln2208Glu) rs1472169963 0.00001
NM_000132.4(F8):c.6658G>C (p.Ala2220Pro) rs782548763 0.00001
NM_000132.4(F8):c.6977G>A (p.Arg2326Gln) rs137852360 0.00001
NM_000132.4(F8):c.940A>G (p.Thr314Ala) rs137852406 0.00001
NM_000132.4(F8):c.*56G>T rs2072483147
NM_000132.4(F8):c.101A>T (p.Asp34Val) rs2073764726
NM_000132.4(F8):c.1175C>T (p.Ser392Leu) rs28933668
NM_000132.4(F8):c.1210T>G (p.Tyr404Asp)
NM_000132.4(F8):c.1247C>T (p.Pro416Leu) rs2523951112
NM_000132.4(F8):c.1312A>T (p.Ile438Phe) rs1258333672
NM_000132.4(F8):c.1327_1339del (p.Lys443fs) rs2523950340
NM_000132.4(F8):c.1331A>C (p.Lys444Thr) rs28937272
NM_000132.4(F8):c.1349A>G (p.Tyr450Cys)
NM_000132.4(F8):c.1462G>C (p.Ala488Pro) rs2523945705
NM_000132.4(F8):c.1475A>G (p.Tyr492Cys) rs137852412
NM_000132.4(F8):c.1504G>T (p.Val502Phe) rs2073393106
NM_000132.4(F8):c.1589A>G (p.Tyr530Cys) rs1557281265
NM_000132.4(F8):c.1639T>C (p.Cys547Arg) rs782151721
NM_000132.4(F8):c.1648C>G (p.Arg550Gly) rs137852417
NM_000132.4(F8):c.1717T>C (p.Cys573Arg)
NM_000132.4(F8):c.1718G>T (p.Cys573Phe)
NM_000132.4(F8):c.1808G>A (p.Ser603Asn) rs137852425
NM_000132.4(F8):c.1835G>T (p.Arg612Leu) rs782473762
NM_000132.4(F8):c.1910A>G (p.Asn637Ser) rs2073315379
NM_000132.4(F8):c.1952A>C (p.His651Pro) rs1569559758
NM_000132.4(F8):c.2098T>C (p.Ser700Pro) rs2073313892
NM_000132.4(F8):c.2161A>C (p.Met721Leu) rs1305924233
NM_000132.4(F8):c.219C>G (p.Phe73Leu) rs1603436770
NM_000132.4(F8):c.3203del (p.Arg1068fs)
NM_000132.4(F8):c.3255_3259del (p.Lys1086fs)
NM_000132.4(F8):c.332C>T (p.Ala111Val)
NM_000132.4(F8):c.335C>T (p.Ser112Phe) rs2073620915
NM_000132.4(F8):c.409A>G (p.Thr137Ala)
NM_000132.4(F8):c.4320T>G (p.Tyr1440Ter)
NM_000132.4(F8):c.5096A>C (p.Tyr1699Ser) rs28935203
NM_000132.4(F8):c.5101G>A (p.Glu1701Lys) rs2073173294
NM_000132.4(F8):c.5143C>G (p.Arg1715Gly) rs137852439
NM_000132.4(F8):c.5312T>C (p.Leu1771Pro)
NM_000132.4(F8):c.5399G>A (p.Arg1800His) rs137852442
NM_000132.4(F8):c.5405A>G (p.Tyr1802Cys) rs2523885738
NM_000132.4(F8):c.5417C>T (p.Ser1806Phe) rs1569559523
NM_000132.4(F8):c.5528C>T (p.Ala1843Val)
NM_000132.4(F8):c.5587-93C>T rs1264918703
NM_000132.4(F8):c.5594A>T (p.Asp1865Val)
NM_000132.4(F8):c.566C>T (p.Ser189Leu) rs137852367
NM_000132.4(F8):c.5696T>C (p.Phe1899Ser) rs1486435006
NM_000132.4(F8):c.5813A>G (p.His1938Arg) rs1603432981
NM_000132.4(F8):c.5816C>A (p.Ala1939Glu) rs1487941652
NM_000132.4(F8):c.5843T>C (p.Leu1948Pro)
NM_000132.4(F8):c.5843T>G (p.Leu1948Arg) rs1417236969
NM_000132.4(F8):c.5939A>G (p.His1980Arg) rs1569559516
NM_000132.4(F8):c.5941G>A (p.Val1981Met) rs2073023240
NM_000132.4(F8):c.602-10T>G
NM_000132.4(F8):c.6278A>T (p.Asp2093Val) rs137852457
NM_000132.4(F8):c.6302A>G (p.His2101Arg)
NM_000132.4(F8):c.6305G>A (p.Gly2102Asp) rs2148583736
NM_000132.4(F8):c.6320G>A (p.Gly2107Asp) rs1190705187
NM_000132.4(F8):c.6326G>C (p.Arg2109Pro) rs781947839
NM_000132.4(F8):c.6400T>C (p.Tyr2134His) rs2523876717
NM_000132.4(F8):c.6485C>T (p.Pro2162Leu) rs1450770782
NM_000132.4(F8):c.6521A>G (p.His2174Arg)
NM_000132.4(F8):c.6532C>T (p.Arg2178Cys) rs137852464
NM_000132.4(F8):c.6685C>T (p.Leu2229Phe) rs1603431508
NM_000132.4(F8):c.6967C>G (p.Arg2323Gly) rs137852473
NM_000132.4(F8):c.842C>T (p.Thr281Ile) rs2073444610
NM_000132.4(F8):c.871G>A (p.Glu291Lys) rs868988809
NM_000132.4(F8):c.877C>G (p.His293Asp) rs1569559881
NM_000132.4(F8):c.881C>G (p.Thr294Arg) rs137852401
NM_000132.4(F8):c.935T>C (p.Phe312Ser) rs137852405
NM_000132.4(F8):c.954_955del (p.Leu319fs)

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