ClinVar Miner

List of variants in gene F8 reported as pathogenic

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 282
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HGVS dbSNP
F8, 1-BP DEL
F8, 1-BP INS, A
F8, 1-BP INS, A, CODON 1414
F8, 10-BP INS, FS
F8, 11-BP DEL, FS
F8, 2-BP DEL, EX8
F8, 2-BP DEL, GA
F8, 2-BP, INS, FS
F8, 23-BP DEL, FS
F8, 3-BP DEL, PHE652DEL
F8, 3-BP DEL, PRO220 DEL
F8, 89-BP DEL, FS
F8, ALU INS
F8, EX1-22DEL
F8, EX1-26DEL
F8, EX1-5DEL
F8, EX1-6DEL
F8, EX10DEL
F8, EX11-18DEL
F8, EX13DUP
F8, EX14-21DEL
F8, EX14-22DEL
F8, EX14DEL
F8, EX15-18DEL
F8, EX15-22DEL
F8, EX15DEL
F8, EX16-26DEL
F8, EX16DEL
F8, EX18-19DEL
F8, EX19-21DEL
F8, EX1DEL
F8, EX2-3DEL
F8, EX2-4DEL
F8, EX22DEL
F8, EX23-24DEL
F8, EX23-25DEL
F8, EX23-26DEL
F8, EX24-25DEL
F8, EX26DEL
F8, EX3-13DEL
F8, EX3-5DEL
F8, EX3DEL
F8, EX4-10DEL
F8, EX4-25DEL
F8, EX5-13DEL
F8, EX5-6 DEL
F8, EX5DEL
F8, EX6DEL
F8, EX7-14DEL
F8, EX7-9DEL
F8, GLU161TER
F8, IVS10AS, G-T, +1
F8, IVS12DS, G-A, +5
F8, IVS14AS, A-G, -2
F8, IVS16DS, G-A, -1
F8, IVS22 INV
F8, IVS4AS, A-G, -2
F8, IVS5AS, A-G, -2
F8, IVS6AS, G-C, -1
F8, IVS6DS, A-G, +3
F8, IVS6DS, A-G, +3, 186-BP DEL, EX5-6 DEL
F8, LINE INS, EX14
NM_000132.3(F8):c.1026T>A (p.Tyr342Ter) rs137852408
NM_000132.3(F8):c.1033G>T (p.Val345Leu) rs137852371
NM_000132.3(F8):c.1043G>C (p.Cys348Ser) rs137852410
NM_000132.3(F8):c.104A>G (p.Tyr35Cys) rs137852476
NM_000132.3(F8):c.1063C>T (p.Arg355Ter) rs137852368
NM_000132.3(F8):c.1077_1080del (p.Asn359fs) rs387906431
NM_000132.3(F8):c.1078_1079del (p.Glu360fs) rs387906440
NM_000132.3(F8):c.1094A>G (p.Tyr365Cys) rs375241473
NM_000132.3(F8):c.1171C>T (p.Arg391Cys) rs137852364
NM_000132.3(F8):c.1172G>A (p.Arg391His) rs28935499
NM_000132.3(F8):c.1174T>C (p.Ser392Pro) rs28933669
NM_000132.3(F8):c.1175C>A (p.Ser392Ter) rs28933668
NM_000132.3(F8):c.1175C>T (p.Ser392Leu) rs28933668
NM_000132.3(F8):c.1197_1198del (p.Lys399fs) rs387906441
NM_000132.3(F8):c.1214T>G (p.Ile405Ser) rs28933670
NM_000132.3(F8):c.121G>T (p.Gly41Cys) rs137852379
NM_000132.3(F8):c.1226A>G (p.Glu409Gly) rs28933671
NM_000132.3(F8):c.1293G>T (p.Leu431Phe) rs28933672
NM_000132.3(F8):c.1293del (p.Asn432fs) rs387906442
NM_000132.3(F8):c.1331A>G (p.Lys444Arg) rs28937272
NM_000132.3(F8):c.1336C>T (p.Arg446Ter) rs137852372
NM_000132.3(F8):c.1348T>A (p.Tyr450Asn) rs111033616
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.1417T>C (p.Tyr473His) rs387906443
NM_000132.3(F8):c.1418A>G (p.Tyr473Cys) rs387906444
NM_000132.3(F8):c.1481T>C (p.Ile494Thr) rs137852413
NM_000132.3(F8):c.1492G>A (p.Gly498Arg) rs137852414
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.1596dup (p.Thr533fs) rs387906445
NM_000132.3(F8):c.1630G>A (p.Asp544Asn) rs137852415
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.1648C>T (p.Arg550Cys) rs137852417
NM_000132.3(F8):c.1649G>A (p.Arg550His) rs137852418
NM_000132.3(F8):c.1660A>G (p.Ser554Gly) rs137852419
NM_000132.3(F8):c.1682A>G (p.Asp561Gly) rs137852420
NM_000132.3(F8):c.1726G>T (p.Glu576Ter) rs137852421
NM_000132.3(F8):c.1729T>C (p.Ser577Pro) rs387906446
NM_000132.3(F8):c.1730C>T (p.Ser577Phe) rs28937282
NM_000132.3(F8):c.1750C>A (p.Gln584Lys) rs137852422
NM_000132.3(F8):c.1754T>C (p.Ile585Thr) rs137852376
NM_000132.3(F8):c.1804C>T (p.Arg602Ter) rs137852424
NM_000132.3(F8):c.1808G>T (p.Ser603Ile) rs137852425
NM_000132.3(F8):c.1812G>C (p.Trp604Cys) rs137852426
NM_000132.3(F8):c.1814A>C (p.Tyr605Ser) rs137852427
NM_000132.3(F8):c.1834C>T (p.Arg612Cys) rs137852428
NM_000132.3(F8):c.1892A>G (p.Asn631Ser) rs137852429
NM_000132.3(F8):c.1957G>A (p.Val653Met) rs137852431
NM_000132.3(F8):c.1958T>C (p.Val653Ala) rs137852430
NM_000132.3(F8):c.1965C>G (p.Tyr655Ter) rs137852432
NM_000132.3(F8):c.1988C>T (p.Ala663Val) rs137852433
NM_000132.3(F8):c.199_200del (p.Lys67fs) rs387906433
NM_000132.3(F8):c.2029T>C (p.Phe677Leu) rs137852434
NM_000132.3(F8):c.2044G>T (p.Val682Phe) rs1569559755
NM_000132.3(F8):c.209_212del (p.Leu69_Phe70insTer) rs387906434
NM_000132.3(F8):c.2113+461_2113+473del
NM_000132.3(F8):c.2114-?_5219+?del (p.?)
NM_000132.3(F8):c.2149C>T (p.Arg717Trp) rs137852435
NM_000132.3(F8):c.2167G>A (p.Ala723Thr) rs137852436
NM_000132.3(F8):c.2215G>A (p.Glu739Lys) rs28937285
NM_000132.3(F8):c.2383A>T (p.Arg795Ter) rs2228152
NM_000132.3(F8):c.266G>A (p.Gly89Asp) rs137852380
NM_000132.3(F8):c.270del (p.Leu90_Leu91insTer) rs1557285171
NM_000132.3(F8):c.2734_2735del (p.Asn912fs) rs1557278778
NM_000132.3(F8):c.275G>T (p.Gly92Val) rs137852381
NM_000132.3(F8):c.2945del (p.Asn982fs) rs387906447
NM_000132.3(F8):c.2945dup (p.Asn982fs) rs387906447
NM_000132.3(F8):c.2958_2959AG[2] (p.Ser988fs) rs387906448
NM_000132.3(F8):c.296T>A (p.Val99Asp) rs137852382
NM_000132.3(F8):c.3091_3094del (p.Lys1031fs) rs1375894900
NM_000132.3(F8):c.311T>A (p.Val104Asp) rs137852383
NM_000132.3(F8):c.3169G>A (p.Glu1057Lys) rs28933673
NM_000132.3(F8):c.323A>C (p.Lys108Thr) rs137852384
NM_000132.3(F8):c.328A>G (p.Met110Val) rs137852385
NM_000132.3(F8):c.350T>G (p.Leu117Arg) rs137852386
NM_000132.3(F8):c.3548_3549del (p.Lys1183fs) rs387906449
NM_000132.3(F8):c.362_363GT[1] (p.Val122fs) rs387906435
NM_000132.3(F8):c.3637del (p.Ile1213fs) rs387906450
NM_000132.3(F8):c.3692del (p.Pro1231fs) rs387906451
NM_000132.3(F8):c.379del (p.Ala127fs) rs1454692506
NM_000132.3(F8):c.388G>C (p.Gly130Arg) rs137852387
NM_000132.3(F8):c.396A>C (p.Glu132Asp) rs137852388
NM_000132.3(F8):c.398A>G (p.Tyr133Cys) rs137852389
NM_000132.3(F8):c.4042A>T (p.Lys1348Ter) rs1297584118
NM_000132.3(F8):c.404A>G (p.Asp135Gly) rs137852390
NM_000132.3(F8):c.410C>T (p.Thr137Ile) rs137852391
NM_000132.3(F8):c.4121_4124del (p.Ile1374fs) rs387906452
NM_000132.3(F8):c.4296_4300del (p.His1434fs) rs387906453
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.43C>T (p.Arg15Ter) rs387906432
NM_000132.3(F8):c.4473C>A (p.Tyr1491Ter) rs1557278411
NM_000132.3(F8):c.4825dup (p.Thr1609fs) rs397514036
NM_000132.3(F8):c.4858del (p.Ser1619_Leu1620insTer) rs387906456
NM_000132.3(F8):c.491G>T (p.Gly164Val) rs137852392
NM_000132.3(F8):c.493C>T (p.Pro165Ser) rs137852393
NM_000132.3(F8):c.5096A>T (p.Tyr1699Phe) rs28935203
NM_000132.3(F8):c.5113C>T (p.Gln1705Ter) rs137852361
NM_000132.3(F8):c.5122C>T (p.Arg1708Cys) rs111033613
NM_000132.3(F8):c.5123G>A (p.Arg1708His) rs111033614
NM_000132.3(F8):c.5143C>G (p.Arg1715Gly) rs137852439
NM_000132.3(F8):c.5143C>T (p.Arg1715Ter) rs137852439
NM_000132.3(F8):c.5167G>A (p.Glu1723Lys) rs137852373
NM_000132.3(F8):c.5183A>G (p.Tyr1728Cys) rs137852362
NM_000132.3(F8):c.5186G>A (p.Gly1729Glu) rs1557278259
NM_000132.3(F8):c.5305G>A (p.Gly1769Arg) rs137852440
NM_000132.3(F8):c.5323T>G (p.Leu1775Val) rs28937287
NM_000132.3(F8):c.5325G>C (p.Leu1775Phe) rs137852441
NM_000132.3(F8):c.5336G>A (p.Gly1779Glu) rs28937289
NM_000132.3(F8):c.5372T>C (p.Met1791Thr) rs137852375
NM_000132.3(F8):c.5398C>G (p.Arg1800Gly) rs137852443
NM_000132.3(F8):c.5398C>T (p.Arg1800Cys) rs137852443
NM_000132.3(F8):c.5399G>A (p.Arg1800His) rs137852442
NM_000132.3(F8):c.5408C>A (p.Ser1803Tyr) rs137852444
NM_000132.3(F8):c.541G>A (p.Val181Met) rs137852394
NM_000132.3(F8):c.5422C>T (p.Leu1808Phe) rs137852445
NM_000132.3(F8):c.5443C>T (p.Gln1815Ter) rs137852446
NM_000132.3(F8):c.5479A>T (p.Lys1827Ter) rs387906457
NM_000132.3(F8):c.5526G>A (p.Met1842Ile) rs28933674
NM_000132.3(F8):c.5530C>T (p.Pro1844Ser) rs28933675
NM_000132.3(F8):c.5533A>C (p.Thr1845Pro) rs28933676
NM_000132.3(F8):c.554A>C (p.Lys185Thr) rs137852395
NM_000132.3(F8):c.5558C>T (p.Ala1853Val) rs28933677
NM_000132.3(F8):c.5593G>A (p.Asp1865Asn) rs28933678
NM_000132.3(F8):c.5593G>T (p.Asp1865Tyr) rs28933678
NM_000132.3(F8):c.5600A>G (p.His1867Arg) rs28933679
NM_000132.3(F8):c.5605G>A (p.Gly1869Ser) rs1417520379
NM_000132.3(F8):c.5618C>G (p.Pro1873Arg) rs28933680
NM_000132.3(F8):c.5622dup (p.Leu1875fs) rs387906458
NM_000132.3(F8):c.566C>T (p.Ser189Leu) rs137852367
NM_000132.3(F8):c.5677C>T (p.Gln1893Ter) rs137852448
NM_000132.3(F8):c.5710G>A (p.Glu1904Lys) rs28933681
NM_000132.3(F8):c.5719dup (p.Ser1907fs) rs387906459
NM_000132.3(F8):c.575T>C (p.Ile192Thr) rs1448187077
NM_000132.3(F8):c.5821A>G (p.Asn1941Asp) rs137852369
NM_000132.3(F8):c.5822A>G (p.Asn1941Ser) rs28933682
NM_000132.3(F8):c.5878C>T (p.Arg1960Ter) rs137852363
NM_000132.3(F8):c.5879G>A (p.Arg1960Gln) rs28937294
NM_000132.3(F8):c.5879G>T (p.Arg1960Leu) rs28937294
NM_000132.3(F8):c.5882G>A (p.Trp1961Ter) rs137852449
NM_000132.3(F8):c.5900G>A (p.Gly1967Asp) rs111033615
NM_000132.3(F8):c.592T>G (p.Cys198Gly) rs137852475
NM_000132.3(F8):c.5936G>T (p.Gly1979Val) rs137852450
NM_000132.3(F8):c.5938C>T (p.His1980Tyr) rs137852451
NM_000132.3(F8):c.5953C>T (p.Arg1985Ter) rs137852452
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.5961del (p.Glu1988fs) rs387906460
NM_000132.3(F8):c.601+1632G>A rs387906429
NM_000132.3(F8):c.6016G>T (p.Glu2006Ter) rs267606791
NM_000132.3(F8):c.6046C>T (p.Arg2016Trp) rs137852453
NM_000132.3(F8):c.6049del (p.Val2017fs) rs387906461
NM_000132.3(F8):c.6089G>A (p.Ser2030Asn) rs369414658
NM_000132.3(F8):c.6103G>A (p.Val2035Met) rs1057521074
NM_000132.3(F8):c.6113A>G (p.Asn2038Ser) rs137852454
NM_000132.3(F8):c.6193T>C (p.Trp2065Arg) rs137852455
NM_000132.3(F8):c.6263C>T (p.Ser2088Phe) rs137852456
NM_000132.3(F8):c.6278A>G (p.Asp2093Gly) rs137852457
NM_000132.3(F8):c.6360T>G (p.Phe2120Leu) rs137852458
NM_000132.3(F8):c.6371A>G (p.Tyr2124Cys) rs137852459
NM_000132.3(F8):c.6403C>T (p.Arg2135Ter) rs137852356
NM_000132.3(F8):c.6404G>C (p.Arg2135Pro) rs137852366
NM_000132.3(F8):c.6412_6413del (p.Ser2138fs) rs387906462
NM_000132.3(F8):c.6413C>A (p.Ser2138Tyr) rs137852460
NM_000132.3(F8):c.6464_6465del (p.Lys2155fs) rs387906463
NM_000132.3(F8):c.6496C>T (p.Arg2166Ter) rs137852357
NM_000132.3(F8):c.6506G>A (p.Arg2169His) rs137852461
NM_000132.3(F8):c.6515C>A (p.Pro2172Gln) rs137852462
NM_000132.3(F8):c.6518C>T (p.Thr2173Ile) rs137852463
NM_000132.3(F8):c.6532C>T (p.Arg2178Cys) rs137852464
NM_000132.3(F8):c.6533G>A (p.Arg2178His) rs137852465
NM_000132.3(F8):c.6533G>T (p.Arg2178Leu) rs137852465
NM_000132.3(F8):c.6544C>T (p.Arg2182Cys) rs137852467
NM_000132.3(F8):c.6545G>A (p.Arg2182His) rs137852466
NM_000132.3(F8):c.6554T>C (p.Leu2185Ser) rs137852365
NM_000132.3(F8):c.6631G>C (p.Ala2211Pro) rs137852468
NM_000132.3(F8):c.665A>T (p.Asp222Val) rs137852396
NM_000132.3(F8):c.6682C>G (p.Arg2228Gly) rs137852355
NM_000132.3(F8):c.6682C>T (p.Arg2228Ter) rs137852355
NM_000132.3(F8):c.6683G>A (p.Arg2228Gln) rs137852358
NM_000132.3(F8):c.6683G>T (p.Arg2228Leu) rs137852358
NM_000132.3(F8):c.6699del (p.Arg2234fs) rs387906464
NM_000132.3(F8):c.670G>T (p.Gly224Trp) rs137852397
NM_000132.3(F8):c.6744G>T (p.Trp2248Cys) rs137852469
NM_000132.3(F8):c.6794A>G (p.Gln2265Arg) rs137852470
NM_000132.3(F8):c.6794_6795del (p.Gln2265fs) rs387906465
NM_000132.3(F8):c.6865C>T (p.Gln2289Ter) rs137852471
NM_000132.3(F8):c.688_689del (p.Glu230fs) rs387906436
NM_000132.3(F8):c.6914_6918del (p.Asn2305fs) rs387906466
NM_000132.3(F8):c.6955C>T (p.Pro2319Ser) rs137852374
NM_000132.3(F8):c.6956C>T (p.Pro2319Leu) rs137852472
NM_000132.3(F8):c.6967C>T (p.Arg2323Cys) rs137852473
NM_000132.3(F8):c.6968G>A (p.Arg2323His) rs137852474
NM_000132.3(F8):c.6976C>T (p.Arg2326Ter) rs137852354
NM_000132.3(F8):c.6977G>A (p.Arg2326Gln) rs137852360
NM_000132.3(F8):c.6977G>T (p.Arg2326Leu) rs137852360
NM_000132.3(F8):c.766T>A (p.Tyr256Asn) rs1569559955
NM_000132.3(F8):c.77T>G (p.Leu26Arg) rs137852377
NM_000132.3(F8):c.797G>A (p.Gly266Glu) rs137852398
NM_000132.3(F8):c.822G>A (p.Trp274Ter) rs34371500
NM_000132.3(F8):c.832G>A (p.Gly278Arg) rs137852399
NM_000132.3(F8):c.849del (p.Glu284fs) rs387906437
NM_000132.3(F8):c.854T>G (p.Val285Gly) rs137852400
NM_000132.3(F8):c.872A>G (p.Glu291Gly) rs137852359
NM_000132.3(F8):c.881C>T (p.Thr294Ile) rs137852401
NM_000132.3(F8):c.896A>T (p.Asn299Ile) rs137852402
NM_000132.3(F8):c.89A>T (p.Glu30Val) rs137852378
NM_000132.3(F8):c.902G>A (p.Arg301His) rs137852403
NM_000132.3(F8):c.902G>T (p.Arg301Leu) rs137852403
NM_000132.3(F8):c.907del (p.Ala303fs) rs387906438
NM_000132.3(F8):c.923C>T (p.Ser308Leu) rs137852404
NM_000132.3(F8):c.935T>C (p.Phe312Ser) rs137852405
NM_000132.3(F8):c.940A>G (p.Thr314Ala) rs137852406
NM_000132.3(F8):c.943del (p.Ala315fs) rs387906439
NM_000132.3(F8):c.980T>C (p.Leu327Pro) rs137852407
NM_000132.3(F8):c.985T>C (p.Cys329Arg) rs387906430
NM_000132.3(F8):c.986G>A (p.Cys329Tyr) rs137852409

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