ClinVar Miner

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

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Total variants: 64
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HGVS dbSNP
NM_000132.3(F8):c.*29C>T rs5986887
NM_000132.3(F8):c.1010-27G>A rs7058826
NM_000132.3(F8):c.102C>T (p.Asp34=) rs1800283
NM_000132.3(F8):c.1086G>A (p.Ala362=) rs1800289
NM_000132.3(F8):c.1094A>G (p.Tyr365Cys) rs375241473
NM_000132.3(F8):c.1172G>A (p.Arg391His) rs28935499
NM_000132.3(F8):c.1301G>T (p.Gly434Val) rs1569559866
NM_000132.3(F8):c.1350C>A (p.Tyr450Ter) rs1557281954
NM_000132.3(F8):c.1350_1351CA[1] (p.Thr451fs)
NM_000132.3(F8):c.1444-22T>C rs5986899
NM_000132.3(F8):c.1569G>T (p.Leu523=) rs782733685
NM_000132.3(F8):c.1589A>G (p.Tyr530Cys) rs1557281265
NM_000132.3(F8):c.1601T>C (p.Val534Ala) rs1557281261
NM_000132.3(F8):c.1636C>T (p.Arg546Trp) rs137852416
NM_000132.3(F8):c.1648C>G (p.Arg550Gly) rs137852417
NM_000132.3(F8):c.1660A>G (p.Ser554Gly) rs137852419
NM_000132.3(F8):c.1778T>A (p.Ile593Asn) rs1557280964
NM_000132.3(F8):c.1834C>T (p.Arg612Cys) rs137852428
NM_000132.3(F8):c.1952A>C (p.His651Pro) rs1569559758
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.2167G>A (p.Ala723Thr) rs137852436
NM_000132.3(F8):c.222G>A (p.Thr74=) rs1232517683
NM_000132.3(F8):c.244A>G (p.Lys82Glu) rs1283070296
NM_000132.3(F8):c.2453C>T (p.Thr818Ile) rs142274278
NM_000132.3(F8):c.270del (p.Leu90_Leu91insTer) rs1557285171
NM_000132.3(F8):c.2945del (p.Asn982fs) rs387906447
NM_000132.3(F8):c.2947G>A (p.Val983Ile) rs35295375
NM_000132.3(F8):c.2994T>G (p.His998Gln) rs149853218
NM_000132.3(F8):c.323A>C (p.Lys108Thr) rs137852384
NM_000132.3(F8):c.359T>C (p.Val120Ala) rs1569560006
NM_000132.3(F8):c.3621C>T (p.His1207=) rs28370212
NM_000132.3(F8):c.3637del (p.Ile1213fs) rs387906450
NM_000132.3(F8):c.3780C>G (p.Asp1260Glu) rs1800291
NM_000132.3(F8):c.379del (p.Ala127fs) rs1454692506
NM_000132.3(F8):c.3864A>C (p.Ser1288=) rs1800292
NM_000132.3(F8):c.4042A>T (p.Lys1348Ter) rs1297584118
NM_000132.3(F8):c.4324_4327AAGA[1] (p.Lys1443fs) rs387906454
NM_000132.3(F8):c.4379del (p.Asn1460fs) rs387906455
NM_000132.3(F8):c.4500G>A (p.Pro1500=) rs33921347
NM_000132.3(F8):c.5096A>T (p.Tyr1699Phe) rs28935203
NM_000132.3(F8):c.5186G>A (p.Gly1729Glu) rs1557278259
NM_000132.3(F8):c.5374-19delT rs782086610
NM_000132.3(F8):c.5399G>A (p.Arg1800His) rs137852442
NM_000132.3(F8):c.5417C>T (p.Ser1806Phe) rs1569559523
NM_000132.3(F8):c.5605G>A (p.Gly1869Ser) rs1417520379
NM_000132.3(F8):c.575T>C (p.Ile192Thr) rs1448187077
NM_000132.3(F8):c.5822A>G (p.Asn1941Ser) rs28933682
NM_000132.3(F8):c.5879G>A (p.Arg1960Gln) rs28937294
NM_000132.3(F8):c.5939A>G (p.His1980Arg) rs1569559516
NM_000132.3(F8):c.5954G>A (p.Arg1985Gln) rs1490417405
NM_000132.3(F8):c.5954del (p.Arg1985fs) rs1215569190
NM_000132.3(F8):c.5960_5964del (p.Lys1987fs) rs1569559514
NM_000132.3(F8):c.6089G>A (p.Ser2030Asn) rs369414658
NM_000132.3(F8):c.6245G>A (p.Ser2082Asn) rs1569559494
NM_000132.3(F8):c.6278A>T (p.Asp2093Val) rs137852457
NM_000132.3(F8):c.6320G>A (p.Gly2107Asp) rs1190705187
NM_000132.3(F8):c.6506G>A (p.Arg2169His) rs137852461
NM_000132.3(F8):c.6769A>G (p.Met2257Val) rs1800297
NM_000132.3(F8):c.6967C>G (p.Arg2323Gly) rs137852473
NM_000132.3(F8):c.6991A>T (p.Ser2331Cys) rs1557271047
NM_000132.3(F8):c.766T>A (p.Tyr256Asn) rs1569559955
NM_000132.3(F8):c.877C>G (p.His293Asp) rs1569559881
NM_000132.3(F8):c.902G>A (p.Arg301His) rs137852403

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