ClinVar Miner

List of variants in gene F8 studied for not provided

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Gene type:
ClinVar version:
Total variants: 221
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HGVS dbSNP gnomAD frequency
NM_000132.4(F8):c.5998+91T>A rs4898352 0.43854
NM_000132.4(F8):c.6115+103T>C rs4074307 0.43589
NM_000132.4(F8):c.788-343C>G rs1936645 0.41321
NM_000132.4(F8):c.601+1893T>C rs5945269 0.18744
NM_000132.4(F8):c.1010-27G>A rs7058826 0.13707
NM_000132.4(F8):c.3864A>C (p.Ser1288=) rs1800292 0.09246
NM_000132.4(F8):c.6769A>G (p.Met2257Val) rs1800297 0.07378
NM_000132.4(F8):c.4500G>A (p.Pro1500=) rs33921347 0.01389
NM_000132.4(F8):c.1086G>A (p.Ala362=) rs1800289 0.01123
NM_000132.4(F8):c.266-19G>A rs28370201 0.00623
NM_000132.4(F8):c.1508G>A (p.Arg503His) rs35383156 0.00563
NM_000132.4(F8):c.2994T>G (p.His998Gln) rs149853218 0.00419
NM_000132.4(F8):c.3621C>T (p.His1207=) rs28370212 0.00371
NM_000132.4(F8):c.389-9C>T rs35621875 0.00356
NM_000132.4(F8):c.2947G>A (p.Val983Ile) rs35295375 0.00205
NM_000132.4(F8):c.3236G>A (p.Arg1079Lys) rs143174629 0.00136
NM_000132.4(F8):c.2453C>T (p.Thr818Ile) rs142274278 0.00080
NM_000132.4(F8):c.102C>T (p.Asp34=) rs1800283 0.00070
NM_000132.4(F8):c.5430T>G (p.Ser1810=) rs142177821 0.00050
NM_000132.4(F8):c.4759G>A (p.Asp1587Asn) rs142347597 0.00029
NM_000132.4(F8):c.1866T>C (p.Leu622=) rs1800290 0.00021
NM_000132.4(F8):c.1018G>A (p.Glu340Lys) rs781954986 0.00019
NM_000132.4(F8):c.1064G>A (p.Arg355Gln) rs146581224 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.1272-5T>C rs377416503 0.00016
NM_000132.4(F8):c.1501G>A (p.Asp501Asn) rs147200025 0.00013
NM_000132.4(F8):c.222G>A (p.Thr74=) rs1232517683 0.00012
NM_000132.4(F8):c.6089G>A (p.Ser2030Asn) rs369414658 0.00009
NM_000132.4(F8):c.1387C>T (p.His463Tyr) rs193028861 0.00008
NM_000132.4(F8):c.2696G>A (p.Ser899Asn) rs145089334 0.00008
NM_000132.4(F8):c.1094A>G (p.Tyr365Cys) rs375241473 0.00007
NM_000132.4(F8):c.3996A>G (p.Arg1332=) rs782379086 0.00007
NM_000132.4(F8):c.4442T>C (p.Leu1481Pro) rs1800294 0.00007
NM_000132.4(F8):c.3701A>T (p.His1234Leu) rs145507297 0.00006
NM_000132.4(F8):c.5200C>T (p.Pro1734Ser) rs782324012 0.00006
NM_000132.4(F8):c.2150G>A (p.Arg717Gln) rs942909873 0.00005
NM_000132.4(F8):c.4182G>A (p.Thr1394=) rs782797370 0.00005
NM_000132.4(F8):c.6374G>C (p.Ser2125Thr) rs782363141 0.00005
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.1030A>C (p.Lys344Gln) rs782395704 0.00002
NM_000132.4(F8):c.2149C>T (p.Arg717Trp) rs137852435 0.00002
NM_000132.4(F8):c.2550G>T (p.Leu850=) rs782777398 0.00002
NM_000132.4(F8):c.5123G>A (p.Arg1708His) rs111033614 0.00002
NM_000132.4(F8):c.5999-11G>A rs782132907 0.00002
NM_000132.4(F8):c.1316G>T (p.Gly439Val) rs1362305882 0.00001
NM_000132.4(F8):c.1569G>T (p.Leu523=) rs782733685 0.00001
NM_000132.4(F8):c.1649G>A (p.Arg550His) rs137852418 0.00001
NM_000132.4(F8):c.1660A>G (p.Ser554Gly) rs137852419 0.00001
NM_000132.4(F8):c.1834C>T (p.Arg612Cys) rs137852428 0.00001
NM_000132.4(F8):c.1835G>A (p.Arg612His) rs782473762 0.00001
NM_000132.4(F8):c.2167G>A (p.Ala723Thr) rs137852436 0.00001
NM_000132.4(F8):c.2732A>G (p.Asp911Gly) rs782671808 0.00001
NM_000132.4(F8):c.3163G>A (p.Asp1055Asn) rs140027831 0.00001
NM_000132.4(F8):c.3603A>T (p.Leu1201Phe) rs782048928 0.00001
NM_000132.4(F8):c.456C>G (p.Ser152Arg) rs781912033 0.00001
NM_000132.4(F8):c.493C>T (p.Pro165Ser) rs137852393 0.00001
NM_000132.4(F8):c.5063C>T (p.Ser1688Leu) rs782235155 0.00001
NM_000132.4(F8):c.5096A>T (p.Tyr1699Phe) rs28935203 0.00001
NM_000132.4(F8):c.5122C>T (p.Arg1708Cys) rs111033613 0.00001
NM_000132.4(F8):c.5954G>A (p.Arg1985Gln) rs1490417405 0.00001
NM_000132.4(F8):c.599A>G (p.Glu200Gly) rs782158761 0.00001
NM_000132.4(F8):c.6371A>G (p.Tyr2124Cys) rs137852459 0.00001
NM_000132.4(F8):c.6533G>A (p.Arg2178His) rs137852465 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.6991A>T (p.Ser2331Cys) rs1557271047 0.00001
NC_000023.11:g.154901441CT[1]
NM_000132.4(F8):c.*56G>T rs2072483147
NM_000132.4(F8):c.101A>T (p.Asp34Val)
NM_000132.4(F8):c.1175C>T (p.Ser392Leu) rs28933668
NM_000132.4(F8):c.1181C>A (p.Ala394Asp)
NM_000132.4(F8):c.1247C>T (p.Pro416Leu)
NM_000132.4(F8):c.1264G>C (p.Asp422His) rs370737113
NM_000132.4(F8):c.1284_1285delinsGT (p.Ser428_Gln429delinsArgTer) rs2124105418
NM_000132.4(F8):c.1301G>T (p.Gly434Val) rs1569559866
NM_000132.4(F8):c.1312A>T (p.Ile438Phe)
NM_000132.4(F8):c.1316G>A (p.Gly439Asp)
NM_000132.4(F8):c.1327_1339del (p.Lys443fs)
NM_000132.4(F8):c.1331A>C (p.Lys444Thr)
NM_000132.4(F8):c.1352_1353del (p.Thr451fs) rs1603435220
NM_000132.4(F8):c.1373G>A (p.Arg458His)
NM_000132.4(F8):c.1457A>T (p.Asn486Ile)
NM_000132.4(F8):c.1462G>C (p.Ala488Pro)
NM_000132.4(F8):c.1475A>G (p.Tyr492Cys)
NM_000132.4(F8):c.1520C>G (p.Ser507Ter)
NM_000132.4(F8):c.1551G>A (p.Leu517=) rs2073369309
NM_000132.4(F8):c.1555_1556dup (p.Asp519fs)
NM_000132.4(F8):c.1636C>T (p.Arg546Trp) rs137852416
NM_000132.4(F8):c.1639T>C (p.Cys547Arg)
NM_000132.4(F8):c.1648C>G (p.Arg550Gly) rs137852417
NM_000132.4(F8):c.1781T>C (p.Leu594Pro)
NM_000132.4(F8):c.1808G>A (p.Ser603Asn)
NM_000132.4(F8):c.1835G>T (p.Arg612Leu) rs782473762
NM_000132.4(F8):c.1848T>C (p.Asn616=) rs1603434700
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.2006C>T (p.Ser669Phe)
NM_000132.4(F8):c.2092T>G (p.Phe698Val)
NM_000132.4(F8):c.2098T>C (p.Ser700Pro)
NM_000132.4(F8):c.2113+471_2113+473dup
NM_000132.4(F8):c.2138A>T (p.Asn713Ile)
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.2440C>T (p.Arg814Ter) rs137852437
NM_000132.4(F8):c.244A>G (p.Lys82Glu) rs1283070296
NM_000132.4(F8):c.262A>G (p.Met88Val) rs782731044
NM_000132.4(F8):c.2727A>G (p.Pro909=)
NM_000132.4(F8):c.274G>A (p.Gly92Ser)
NM_000132.4(F8):c.2803C>T (p.Gln935Ter) rs372337556
NM_000132.4(F8):c.2945del (p.Asn982fs) rs387906447
NM_000132.4(F8):c.2954C>T (p.Ser985Leu)
NM_000132.4(F8):c.2961G>C (p.Glu987Asp)
NM_000132.4(F8):c.3106G>C (p.Gly1036Arg)
NM_000132.4(F8):c.312C>A (p.Val104=)
NM_000132.4(F8):c.3263C>T (p.Thr1088Ile)
NM_000132.4(F8):c.3280G>A (p.Glu1094Lys) rs377119670
NM_000132.4(F8):c.335C>T (p.Ser112Phe)
NM_000132.4(F8):c.3361T>G (p.Leu1121Val)
NM_000132.4(F8):c.3409C>A (p.Leu1137Met)
NM_000132.4(F8):c.359T>C (p.Val120Ala) rs1569560006
NM_000132.4(F8):c.3637dup (p.Ile1213fs) rs387906450
NM_000132.4(F8):c.3780C>G (p.Asp1260Glu) rs1800291
NM_000132.4(F8):c.379del (p.Ala127fs) rs1454692506
NM_000132.4(F8):c.37C>T (p.Leu13Phe)
NM_000132.4(F8):c.3870dup (p.Gly1291fs)
NM_000132.4(F8):c.4042A>T (p.Lys1348Ter) rs1297584118
NM_000132.4(F8):c.4163C>T (p.Pro1388Leu)
NM_000132.4(F8):c.4254T>A (p.Ile1418=)
NM_000132.4(F8):c.4367G>A (p.Gly1456Glu)
NM_000132.4(F8):c.4379dup (p.Asn1460fs) rs387906455
NM_000132.4(F8):c.43C>T (p.Arg15Ter) rs387906432
NM_000132.4(F8):c.4473C>A (p.Tyr1491Ter) rs1557278411
NM_000132.4(F8):c.4473C>G (p.Tyr1491Ter)
NM_000132.4(F8):c.4757G>A (p.Trp1586Ter)
NM_000132.4(F8):c.476T>C (p.Val159Ala) rs2124141036
NM_000132.4(F8):c.4825dup (p.Thr1609fs) rs397514036
NM_000132.4(F8):c.4841del (p.Lys1614fs)
NM_000132.4(F8):c.5042T>C (p.Ile1681Thr)
NM_000132.4(F8):c.508C>T (p.Pro170Ser)
NM_000132.4(F8):c.5096A>C (p.Tyr1699Ser)
NM_000132.4(F8):c.5101G>A (p.Glu1701Lys)
NM_000132.4(F8):c.5120C>T (p.Pro1707Leu)
NM_000132.4(F8):c.5143C>A (p.Arg1715=) rs137852439
NM_000132.4(F8):c.5143C>G (p.Arg1715Gly) rs137852439
NM_000132.4(F8):c.5186G>A (p.Gly1729Glu) rs1557278259
NM_000132.4(F8):c.521C>T (p.Thr174Ile)
NM_000132.4(F8):c.5399G>A (p.Arg1800His) rs137852442
NM_000132.4(F8):c.5405A>G (p.Tyr1802Cys)
NM_000132.4(F8):c.5417C>T (p.Ser1806Phe) rs1569559523
NM_000132.4(F8):c.541G>A (p.Val181Met) rs137852394
NM_000132.4(F8):c.5562G>T (p.Trp1854Cys)
NM_000132.4(F8):c.5579T>C (p.Val1860Ala)
NM_000132.4(F8):c.5587-93C>T rs1264918703
NM_000132.4(F8):c.5600A>G (p.His1867Arg) rs28933679
NM_000132.4(F8):c.5605G>A (p.Gly1869Ser) rs1417520379
NM_000132.4(F8):c.566C>T (p.Ser189Leu) rs137852367
NM_000132.4(F8):c.5689_5690del (p.Leu1897fs)
NM_000132.4(F8):c.5696T>C (p.Phe1899Ser) rs1486435006
NM_000132.4(F8):c.5703C>A (p.Ile1901=) rs782721473
NM_000132.4(F8):c.575T>C (p.Ile192Thr) rs1448187077
NM_000132.4(F8):c.580G>C (p.Ala194Pro)
NM_000132.4(F8):c.5813A>G (p.His1938Arg) rs1603432981
NM_000132.4(F8):c.5816C>A (p.Ala1939Glu)
NM_000132.4(F8):c.5843T>G (p.Leu1948Arg)
NM_000132.4(F8):c.5851T>C (p.Leu1951=)
NM_000132.4(F8):c.5879G>A (p.Arg1960Gln) rs28937294
NM_000132.4(F8):c.5939A>G (p.His1980Arg) rs1569559516
NM_000132.4(F8):c.5941G>A (p.Val1981Met)
NM_000132.4(F8):c.5954del (p.Arg1985fs) rs1215569190
NM_000132.4(F8):c.5960_5964del (p.Lys1987fs) rs1569559514
NM_000132.4(F8):c.5961dup (p.Glu1988fs)
NM_000132.4(F8):c.5999-270C>G
NM_000132.4(F8):c.602-11T>C
NM_000132.4(F8):c.6047G>A (p.Arg2016Gln) rs1444225681
NM_000132.4(F8):c.6066C>T (p.Gly2022=)
NM_000132.4(F8):c.6103G>A (p.Val2035Met) rs1057521074
NM_000132.4(F8):c.6164A>C (p.Gln2055Pro)
NM_000132.4(F8):c.6245G>A (p.Ser2082Asn) rs1569559494
NM_000132.4(F8):c.6274-304GT[13] rs57253105
NM_000132.4(F8):c.6274-304GT[14] rs57253105
NM_000132.4(F8):c.6278A>T (p.Asp2093Val) rs137852457
NM_000132.4(F8):c.6299T>C (p.Ile2100Thr)
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)
NM_000132.4(F8):c.6400T>C (p.Tyr2134His)
NM_000132.4(F8):c.6403C>T (p.Arg2135Ter) rs137852356
NM_000132.4(F8):c.641T>A (p.Phe214Tyr) rs2073563946
NM_000132.4(F8):c.6429+5G>A
NM_000132.4(F8):c.6443A>G (p.Asn2148Ser) rs1321311878
NM_000132.4(F8):c.6483T>A (p.Pro2161=)
NM_000132.4(F8):c.6485C>T (p.Pro2162Leu)
NM_000132.4(F8):c.6506G>A (p.Arg2169His) rs137852461
NM_000132.4(F8):c.6532C>T (p.Arg2178Cys) rs137852464
NM_000132.4(F8):c.6547A>G (p.Met2183Val) rs781797728
NM_000132.4(F8):c.6653T>A (p.Met2218Lys)
NM_000132.4(F8):c.6663C>A (p.Thr2221=)
NM_000132.4(F8):c.6679G>A (p.Ala2227Thr) rs1342196860
NM_000132.4(F8):c.6682C>T (p.Arg2228Ter) rs137852355
NM_000132.4(F8):c.6685C>T (p.Leu2229Phe) rs1603431508
NM_000132.4(F8):c.6686T>C (p.Leu2229Pro) rs1603431506
NM_000132.4(F8):c.6720T>G (p.Pro2240=)
NM_000132.4(F8):c.6742T>G (p.Trp2248Gly)
NM_000132.4(F8):c.6744G>T (p.Trp2248Cys) rs137852469
NM_000132.4(F8):c.6754G>C (p.Asp2252His) rs2072683196
NM_000132.4(F8):c.6794A>G (p.Gln2265Arg) rs137852470
NM_000132.4(F8):c.6825T>A (p.Tyr2275Ter)
NM_000132.4(F8):c.6956C>T (p.Pro2319Leu) rs137852472
NM_000132.4(F8):c.6967C>G (p.Arg2323Gly) rs137852473
NM_000132.4(F8):c.728C>G (p.Ser243Cys)
NM_000132.4(F8):c.766T>A (p.Tyr256Asn) rs1569559955
NM_000132.4(F8):c.842C>T (p.Thr281Ile)
NM_000132.4(F8):c.871G>A (p.Glu291Lys)
NM_000132.4(F8):c.877C>G (p.His293Asp) rs1569559881
NM_000132.4(F8):c.881C>G (p.Thr294Arg)
NM_000132.4(F8):c.902G>A (p.Arg301His) rs137852403
NM_000132.4(F8):c.926C>T (p.Pro309Leu) rs1603435401
NM_000132.4(F8):c.935T>C (p.Phe312Ser) rs137852405

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