ClinVar Miner

List of variants reported as likely pathogenic for Hereditary factor VIII deficiency disease

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ClinVar version:
Total variants: 171
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HGVS dbSNP gnomAD frequency
NM_000132.4(F8):c.3169G>A (p.Glu1057Lys) rs28933673 0.00014
NM_000132.4(F8):c.6089G>A (p.Ser2030Asn) rs369414658 0.00009
NM_000133.4(F9):c.1345C>T (p.Arg449Trp) rs757996262 0.00009
NM_000132.4(F8):c.2150G>A (p.Arg717Gln) rs942909873 0.00005
NM_000132.4(F8):c.1700T>C (p.Ile567Thr) rs782193428 0.00003
NM_000132.4(F8):c.248C>G (p.Pro83Arg) rs781974394 0.00003
NM_000132.4(F8):c.5144G>A (p.Arg1715Gln) rs781876217 0.00003
NM_000132.4(F8):c.1748A>G (p.Asn583Ser) rs782657516 0.00002
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.5999-11G>A rs782132907 0.00002
NM_000132.4(F8):c.1835G>A (p.Arg612His) rs782473762 0.00001
NM_000132.4(F8):c.493C>T (p.Pro165Ser) rs137852393 0.00001
NM_000132.4(F8):c.5302C>T (p.Arg1768Cys) rs1046670041 0.00001
NM_000132.4(F8):c.5954G>A (p.Arg1985Gln) rs1490417405 0.00001
NM_000132.4(F8):c.6304G>A (p.Gly2102Ser) rs200433372 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.6623A>G (p.Gln2208Arg) rs782198570 0.00001
NM_000132.4(F8):c.6932C>A (p.Pro2311His) rs1047644991 0.00001
NM_000132.4(F8):c.6967C>T (p.Arg2323Cys) rs137852473 0.00001
NM_000132.4(F8):c.6977G>A (p.Arg2326Gln) rs137852360 0.00001
NC_000023.11:g.154966457A>C
NM_000132.4(F8):c.1120del (p.Met374fs)
NM_000132.4(F8):c.1169T>C (p.Ile390Thr) rs2124106062
NM_000132.4(F8):c.1180del (p.Ala394fs)
NM_000132.4(F8):c.1214T>G (p.Ile405Ser) rs28933670
NM_000132.4(F8):c.1244C>A (p.Ala415Asp)
NM_000132.4(F8):c.1405G>T (p.Gly469Ter)
NM_000132.4(F8):c.1420G>A (p.Gly474Arg)
NM_000132.4(F8):c.1430G>T (p.Gly477Val) rs2124105158
NM_000132.4(F8):c.1443+5G>A rs1195283929
NM_000132.4(F8):c.1444-3C>G rs1603435027
NM_000132.4(F8):c.1468A>G (p.Arg490Gly) rs1603435026
NM_000132.4(F8):c.1481T>G (p.Ile494Ser) rs137852413
NM_000132.4(F8):c.1504G>T (p.Val502Phe) rs2073393106
NM_000132.4(F8):c.1538-18G>A rs1482306571
NM_000132.4(F8):c.1636C>T (p.Arg546Trp) rs137852416
NM_000132.4(F8):c.1655A>G (p.Tyr552Cys)
NM_000132.4(F8):c.1804C>G (p.Arg602Gly) rs137852424
NM_000132.4(F8):c.1825A>C (p.Asn609His) rs2073350730
NM_000132.4(F8):c.1894del (p.Ile632fs) rs1603434698
NM_000132.4(F8):c.1904-2A>G
NM_000132.4(F8):c.1907T>C (p.Ile636Thr)
NM_000132.4(F8):c.1930T>G (p.Leu644Val) rs2124082414
NM_000132.4(F8):c.2043G>A (p.Met681Ile)
NM_000132.4(F8):c.2045T>C (p.Val682Ala)
NM_000132.4(F8):c.2101A>G (p.Met701Val) rs2073313804
NM_000132.4(F8):c.2114-6760_2257del
NM_000132.4(F8):c.219C>G (p.Phe73Leu) rs1603436770
NM_000132.4(F8):c.2627T>A (p.Leu876Ter) rs2073195449
NM_000132.4(F8):c.262A>G (p.Met88Val) rs782731044
NM_000132.4(F8):c.2712del (p.Ile905fs)
NM_000132.4(F8):c.2717C>G (p.Ser906Ter)
NM_000132.4(F8):c.2974_2977del (p.Phe992fs) rs2124052011
NM_000132.4(F8):c.308T>C (p.Val103Ala) rs2073621465
NM_000132.4(F8):c.3144G>A (p.Trp1048Ter) rs1060499784
NM_000132.4(F8):c.335C>T (p.Ser112Phe)
NM_000132.4(F8):c.3385C>T (p.Gln1129Ter)
NM_000132.4(F8):c.3637dup (p.Ile1213fs) rs387906450
NM_000132.4(F8):c.377A>G (p.Lys126Arg) rs1603436639
NM_000132.4(F8):c.3780del (p.Asp1260fs) rs2124050215
NM_000132.4(F8):c.382T>C (p.Ser128Pro) rs1603436638
NM_000132.4(F8):c.4024G>T (p.Glu1342Ter) rs2073182544
NM_000132.4(F8):c.403G>T (p.Asp135Tyr) rs2073597882
NM_000132.4(F8):c.4379del (p.Asn1460fs) rs387906455
NM_000132.4(F8):c.4379dup (p.Asn1460fs) rs387906455
NM_000132.4(F8):c.460A>G (p.Thr154Ala) rs1603436436
NM_000132.4(F8):c.4767_4768insATAACCAA (p.Tyr1590fs) rs886039906
NM_000132.4(F8):c.476T>A (p.Val159Asp)
NM_000132.4(F8):c.5093T>C (p.Ile1698Thr) rs2073173387
NM_000132.4(F8):c.509C>T (p.Pro170Leu) rs2124140933
NM_000132.4(F8):c.5101G>A (p.Glu1701Lys)
NM_000132.4(F8):c.5149T>C (p.Tyr1717His)
NM_000132.4(F8):c.5186G>A (p.Gly1729Glu) rs1557278259
NM_000132.4(F8):c.5217C>T (p.Asn1739=) rs1603433715
NM_000132.4(F8):c.5219G>T (p.Arg1740Met) rs1444273117
NM_000132.4(F8):c.5297T>A (p.Leu1766Ter)
NM_000132.4(F8):c.5306G>A (p.Gly1769Glu)
NM_000132.4(F8):c.5308G>A (p.Glu1770Lys) rs2124000594
NM_000132.4(F8):c.5422C>T (p.Leu1808Phe) rs137852445
NM_000132.4(F8):c.5453dup (p.Ala1819fs)
NM_000132.4(F8):c.5506T>C (p.Trp1836Arg) rs2073029867
NM_000132.4(F8):c.5527G>A (p.Ala1843Thr) rs1603432996
NM_000132.4(F8):c.557A>G (p.Asp186Gly)
NM_000132.4(F8):c.5586+2T>C
NM_000132.4(F8):c.5587-93C>T rs1264918703
NM_000132.4(F8):c.55A>C (p.Ser19Arg) rs2124174458
NM_000132.4(F8):c.5666A>G (p.Gln1889Arg) rs2123997081
NM_000132.4(F8):c.5724del (p.Trp1908fs) rs2073026512
NM_000132.4(F8):c.5813A>G (p.His1938Arg) rs1603432981
NM_000132.4(F8):c.5815G>C (p.Ala1939Pro) rs1603432979
NM_000132.4(F8):c.5816-2A>G rs2123996454
NM_000132.4(F8):c.5853A>T (p.Leu1951Phe)
NM_000132.4(F8):c.5875A>T (p.Ile1959Phe) rs1411617809
NM_000132.4(F8):c.5879G>A (p.Arg1960Gln) rs28937294
NM_000132.4(F8):c.592T>G (p.Cys198Gly) rs137852475
NM_000132.4(F8):c.5939_5940del (p.His1980fs)
NM_000132.4(F8):c.5994del (p.Pro1999fs)
NM_000132.4(F8):c.5998+1G>T
NM_000132.4(F8):c.5999G>C (p.Gly2000Ala) rs1603432913
NM_000132.4(F8):c.601G>A (p.Gly201Arg) rs1229954426
NM_000132.4(F8):c.601G>T (p.Gly201Trp)
NM_000132.4(F8):c.6043T>C (p.Trp2015Arg) rs2073013277
NM_000132.4(F8):c.6047G>A (p.Arg2016Gln) rs1444225681
NM_000132.4(F8):c.6052G>A (p.Glu2018Lys)
NM_000132.4(F8):c.605G>A (p.Ser202Asn) rs1603436218
NM_000132.4(F8):c.606T>G (p.Ser202Arg) rs1603436217
NM_000132.4(F8):c.6118T>G (p.Cys2040Gly) rs2123993603
NM_000132.4(F8):c.6119G>A (p.Cys2040Tyr) rs2123993600
NM_000132.4(F8):c.6273G>A (p.Lys2091=) rs2148584915
NM_000132.4(F8):c.6273G>C (p.Lys2091Asn)
NM_000132.4(F8):c.6274-2A>G
NM_000132.4(F8):c.6296T>A (p.Ile2099Asn) rs1603432784
NM_000132.4(F8):c.6301C>G (p.His2101Asp) rs1603432783
NM_000132.4(F8):c.6325C>T (p.Arg2109Cys)
NM_000132.4(F8):c.6375T>A (p.Ser2125Arg)
NM_000132.4(F8):c.640T>G (p.Phe214Val) rs2073563995
NM_000132.4(F8):c.6443A>G (p.Asn2148Ser) rs1321311878
NM_000132.4(F8):c.6454T>C (p.Ser2152Pro)
NM_000132.4(F8):c.650T>C (p.Leu217Pro) rs2124134359
NM_000132.4(F8):c.650T>G (p.Leu217Arg) rs2124134359
NM_000132.4(F8):c.6533G>T (p.Arg2178Leu) rs137852465
NM_000132.4(F8):c.6547A>G (p.Met2183Val) rs781797728
NM_000132.4(F8):c.6550G>C (p.Glu2184Gln) rs2148568062
NM_000132.4(F8):c.6593G>A (p.Gly2198Glu) rs2148567338
NM_000132.4(F8):c.6617A>G (p.Asp2206Gly) rs2072694107
NM_000132.4(F8):c.665A>C (p.Asp222Ala) rs137852396
NM_000132.4(F8):c.6678del (p.Ala2227fs) rs1273763950
NM_000132.4(F8):c.6697G>T (p.Gly2233Trp) rs2072692745
NM_000132.4(F8):c.6709G>A (p.Ala2237Thr)
NM_000132.4(F8):c.6710C>T (p.Ala2237Val)
NM_000132.4(F8):c.6719C>T (p.Pro2240Leu) rs1174359623
NM_000132.4(F8):c.6812T>C (p.Leu2271Pro) rs2072682503
NM_000132.4(F8):c.683A>C (p.His228Pro)
NM_000132.4(F8):c.6900+1G>C
NM_000132.4(F8):c.6929C>T (p.Thr2310Ile) rs373079141
NM_000132.4(F8):c.6956dup (p.Leu2320fs) rs1475873048
NM_000132.4(F8):c.6959T>G (p.Leu2320Ter) rs2148555597
NM_000132.4(F8):c.6968G>C (p.Arg2323Pro) rs137852474
NM_000132.4(F8):c.6975del (p.Arg2326fs) rs2148555575
NM_000132.4(F8):c.7015A>T (p.Arg2339Trp)
NM_000132.4(F8):c.7021G>A (p.Glu2341Lys) rs2072484280
NM_000132.4(F8):c.7033T>C (p.Cys2345Arg)
NM_000132.4(F8):c.745A>T (p.Lys249Ter)
NM_000132.4(F8):c.74A>G (p.Tyr25Cys) rs2124174443
NM_000132.4(F8):c.755C>T (p.Thr252Ile) rs1464962436
NM_000132.4(F8):c.784C>G (p.Pro262Ala)
NM_000132.4(F8):c.787+5G>C rs1378662017
NM_000132.4(F8):c.797G>A (p.Gly266Glu) rs137852398
NM_000132.4(F8):c.836T>G (p.Met279Arg)
NM_000132.4(F8):c.83_87del (p.Ala28fs) rs1603437863
NM_000132.4(F8):c.853G>A (p.Val285Met) rs2073444412
NM_000132.4(F8):c.897_898insAAGGCGTCGC (p.His300fs)
NM_000132.4(F8):c.901C>T (p.Arg301Cys) rs1401805753
NM_000132.4(F8):c.923C>G (p.Ser308Trp)
NM_000132.4(F8):c.967G>A (p.Gly323Arg) rs2124109849
NM_000132.4(F8):c.979C>G (p.Leu327Val) rs1603435395
NM_000132.4(F8):c.980T>C (p.Leu327Pro) rs137852407
NM_000132.4(F8):c.984T>G (p.Phe328Leu) rs782668199
NM_000132.4(F8):c.986G>A (p.Cys329Tyr) rs137852409
NM_000132.4(F8):c.992T>C (p.Ile331Thr) rs2073442480
NM_000133.4(F9):c.1025C>T (p.Thr342Met) rs137852254
NM_000133.4(F9):c.1069G>A (p.Gly357Arg) rs137852257
NM_000133.4(F9):c.1106T>C (p.Leu369Pro) rs1603267393
NM_000133.4(F9):c.724-5_731del rs1603267163
NM_000133.4(F9):c.757G>A (p.Gly253Arg) rs1603267181
NM_000133.4(F9):c.802T>A (p.Cys268Ser) rs1603267194
NM_000133.4(F9):c.845A>G (p.His282Arg) rs753654616
NM_000133.4(F9):c.88+1G>A rs1603263397
NM_000133.4(F9):c.88+5G>T rs1603263401

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