ClinVar Miner

List of variants studied for Hereditary factor VIII deficiency disease by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 160
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HGVS dbSNP gnomAD frequency
NM_000132.4(F8):c.1010-27G>A rs7058826 0.13707
NM_000132.4(F8):c.*29C>T rs5986887 0.01323
NM_000132.4(F8):c.1444-22T>C rs5986899 0.01075
NM_000132.4(F8):c.670+31C>G rs34277626 0.00585
NM_000132.4(F8):c.2947G>A (p.Val983Ile) rs35295375 0.00205
NM_000132.4(F8):c.4333T>C (p.Ser1445Pro) rs146153504 0.00129
NM_000132.4(F8):c.5430T>G (p.Ser1810=) rs142177821 0.00050
NM_000132.4(F8):c.6115+27C>T rs375609267 0.00039
NM_000132.4(F8):c.601+17G>A rs200951849 0.00024
NM_000132.4(F8):c.190G>A (p.Val64Met) rs187738612 0.00022
NM_000132.4(F8):c.1866T>C (p.Leu622=) rs1800290 0.00021
NM_000132.4(F8):c.6276G>A (p.Val2092=) rs199522131 0.00019
NM_000132.4(F8):c.3399A>G (p.Gly1133=) rs200042130 0.00015
NM_000132.4(F8):c.1666G>A (p.Val556Ile) rs372867215 0.00009
NM_000132.4(F8):c.6696A>G (p.Gln2232=) rs201870876 0.00009
NM_000132.4(F8):c.5604A>T (p.Ser1868=) rs782028903 0.00006
NM_000132.4(F8):c.748A>G (p.Met250Val) rs781943293 0.00005
NM_000132.4(F8):c.3376A>T (p.Arg1126Trp) rs199630813 0.00004
NM_000132.4(F8):c.4045A>G (p.Arg1349Gly) rs937701134 0.00004
NM_000132.4(F8):c.5009C>T (p.Thr1670Ile) rs200396298 0.00004
NM_000132.4(F8):c.5950G>C (p.Val1984Leu) rs782504844 0.00003
NM_000132.4(F8):c.5123G>A (p.Arg1708His) rs111033614 0.00002
NM_000132.4(F8):c.6544C>T (p.Arg2182Cys) rs137852467 0.00002
NM_000132.4(F8):c.1063C>T (p.Arg355Ter) rs137852368 0.00001
NM_000132.4(F8):c.1231G>A (p.Asp411Asn) rs1324147584 0.00001
NM_000132.4(F8):c.144-13T>G rs782248521 0.00001
NM_000132.4(F8):c.1573G>A (p.Gly525Arg) rs1357976820 0.00001
NM_000132.4(F8):c.2243A>G (p.Tyr748Cys) rs1160871723 0.00001
NM_000132.4(F8):c.5122C>T (p.Arg1708Cys) rs111033613 0.00001
NM_000132.4(F8):c.6304G>A (p.Gly2102Ser) rs200433372 0.00001
NM_000132.4(F8):c.6323C>T (p.Ala2108Val) rs782094982 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.6849C>T (p.Ser2283=) rs1319284046 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
NM_000132.4(F8):c.1010-9T>A rs1603435287
NM_000132.4(F8):c.1171C>T (p.Arg391Cys) rs137852364
NM_000132.4(F8):c.1172G>A (p.Arg391His) rs28935499
NM_000132.4(F8):c.1202G>A (p.Trp401Ter) rs2073424782
NM_000132.4(F8):c.1257_1262delinsG (p.Ala420fs) rs2124105898
NM_000132.4(F8):c.1271+1G>A rs1603435260
NM_000132.4(F8):c.1332del (p.Val445fs) rs1375296497
NM_000132.4(F8):c.1430G>T (p.Gly477Val) rs2124105158
NM_000132.4(F8):c.1439T>C (p.Leu480Pro) rs1256548419
NM_000132.4(F8):c.1443+5G>A rs1195283929
NM_000132.4(F8):c.1444-3C>G rs1603435027
NM_000132.4(F8):c.1481T>G (p.Ile494Ser) rs137852413
NM_000132.4(F8):c.1485C>G (p.Tyr495Ter) rs2124099224
NM_000132.4(F8):c.1492G>A (p.Gly498Arg) rs137852414
NM_000132.4(F8):c.1504G>T (p.Val502Phe) rs2073393106
NM_000132.4(F8):c.1538-18G>A rs1482306571
NM_000132.4(F8):c.1652A>G (p.Tyr551Cys) rs2073368605
NM_000132.4(F8):c.1696C>T (p.Leu566Phe) rs2124094420
NM_000132.4(F8):c.1804C>T (p.Arg602Ter) rs137852424
NM_000132.4(F8):c.1825A>C (p.Asn609His) rs2073350730
NM_000132.4(F8):c.1941_1944del (p.Leu650fs) rs2124082382
NM_000132.4(F8):c.2048A>G (p.Tyr683Cys) rs1384374956
NM_000132.4(F8):c.209_212del (p.Leu69_Phe70insTer) rs387906434
NM_000132.4(F8):c.2101A>G (p.Met701Val) rs2073313804
NM_000132.4(F8):c.2118_2119dup (p.Trp707fs) rs2124054281
NM_000132.4(F8):c.2162T>C (p.Met721Thr) rs1314906579
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.2506dup (p.Ser836fs) rs2124053251
NM_000132.4(F8):c.2618G>A (p.Gly873Asp) rs2073195544
NM_000132.4(F8):c.286C>T (p.Gln96Ter) rs2124146053
NM_000132.4(F8):c.2902G>T (p.Glu968Ter) rs782176982
NM_000132.4(F8):c.2945dup (p.Asn982fs) rs387906447
NM_000132.4(F8):c.296T>C (p.Val99Ala) rs137852382
NM_000132.4(F8):c.302A>G (p.Asp101Gly) rs1312347909
NM_000132.4(F8):c.3091_3094del (p.Lys1031fs) rs1375894900
NM_000132.4(F8):c.3637del (p.Ile1213fs) rs387906450
NM_000132.4(F8):c.3746del (p.Leu1249fs) rs2124050272
NM_000132.4(F8):c.377A>G (p.Lys126Arg) rs1603436639
NM_000132.4(F8):c.382T>C (p.Ser128Pro) rs1603436638
NM_000132.4(F8):c.3861_3867del (p.Phe1287fs) rs1603433779
NM_000132.4(F8):c.388+1G>A rs1377354928
NM_000132.4(F8):c.3964del (p.Gln1322fs) rs2073183197
NM_000132.4(F8):c.403G>T (p.Asp135Tyr) rs2073597882
NM_000132.4(F8):c.4328_4331del (p.Lys1443fs) rs387906454
NM_000132.4(F8):c.4379del (p.Asn1460fs) rs387906455
NM_000132.4(F8):c.437_438del (p.Lys146fs) rs2124141140
NM_000132.4(F8):c.4636C>T (p.Gln1546Ter) rs2073177296
NM_000132.4(F8):c.4758G>A (p.Trp1586Ter) rs2124048012
NM_000132.4(F8):c.4870G>T (p.Glu1624Ter) rs1603433733
NM_000132.4(F8):c.4936del (p.Ala1646fs) rs1603433729
NM_000132.4(F8):c.505G>A (p.Asp169Asn) rs2073596825
NM_000132.4(F8):c.5093T>C (p.Ile1698Thr) rs2073173387
NM_000132.4(F8):c.5143C>T (p.Arg1715Ter) rs137852439
NM_000132.4(F8):c.5219+1G>A rs1280131174
NM_000132.4(F8):c.5219G>T (p.Arg1740Met) rs1444273117
NM_000132.4(F8):c.5301C>A (p.Tyr1767Ter) rs782763245
NM_000132.4(F8):c.5308G>A (p.Glu1770Lys) rs2124000594
NM_000132.4(F8):c.5335G>A (p.Gly1779Arg) rs1168919288
NM_000132.4(F8):c.5379_5381delinsGA (p.Phe1794fs) rs1342455699
NM_000132.4(F8):c.5399G>A (p.Arg1800His) rs137852442
NM_000132.4(F8):c.5422C>T (p.Leu1808Phe) rs137852445
NM_000132.4(F8):c.5449C>T (p.Gln1817Ter) rs2123997982
NM_000132.4(F8):c.5483del (p.Pro1828fs) rs2073030045
NM_000132.4(F8):c.5493C>G (p.Thr1831=) rs1603432997
NM_000132.4(F8):c.5501dup (p.Tyr1834Ter) rs2123997870
NM_000132.4(F8):c.5527G>A (p.Ala1843Thr) rs1603432996
NM_000132.4(F8):c.5576A>T (p.Asp1859Val) rs2123997719
NM_000132.4(F8):c.55A>C (p.Ser19Arg) rs2124174458
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.5822A>G (p.Asn1941Ser) rs28933682
NM_000132.4(F8):c.5875A>T (p.Ile1959Phe) rs1411617809
NM_000132.4(F8):c.5914_5915del (p.Ile1972fs) rs1216878586
NM_000132.4(F8):c.592T>G (p.Cys198Gly) rs137852475
NM_000132.4(F8):c.5953C>T (p.Arg1985Ter) rs137852452
NM_000132.4(F8):c.5999-2A>C rs2123994187
NM_000132.4(F8):c.5999G>T (p.Gly2000Val) rs1603432913
NM_000132.4(F8):c.601G>A (p.Gly201Arg) rs1229954426
NM_000132.4(F8):c.6020del (p.Met2007fs) rs2123994155
NM_000132.4(F8):c.6043T>C (p.Trp2015Arg) rs2073013277
NM_000132.4(F8):c.6046C>T (p.Arg2016Trp) rs137852453
NM_000132.4(F8):c.606T>G (p.Ser202Arg) rs1603436217
NM_000132.4(F8):c.6104T>C (p.Val2035Ala) rs1603432906
NM_000132.4(F8):c.6118T>G (p.Cys2040Gly) rs2123993603
NM_000132.4(F8):c.6273G>A (p.Lys2091=) rs2148584915
NM_000132.4(F8):c.6296T>A (p.Ile2099Asn) rs1603432784
NM_000132.4(F8):c.6346T>C (p.Tyr2116His) rs781870586
NM_000132.4(F8):c.6403C>T (p.Arg2135Ter) rs137852356
NM_000132.4(F8):c.640T>G (p.Phe214Val) rs2073563995
NM_000132.4(F8):c.6496C>T (p.Arg2166Ter) rs137852357
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.6523_6525del (p.Tyr2175del) rs2072706332
NM_000132.4(F8):c.6545G>A (p.Arg2182His) rs137852466
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.65G>A (p.Arg22Lys) rs2073765087
NM_000132.4(F8):c.6638C>T (p.Ser2213Phe) rs1603431511
NM_000132.4(F8):c.665A>C (p.Asp222Ala) rs137852396
NM_000132.4(F8):c.6683G>A (p.Arg2228Gln) rs137852358
NM_000132.4(F8):c.6697G>T (p.Gly2233Trp) rs2072692745
NM_000132.4(F8):c.6719C>T (p.Pro2240Leu) rs1174359623
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.6975del (p.Arg2326fs) rs2148555575
NM_000132.4(F8):c.6976C>T (p.Arg2326Ter) rs137852354
NM_000132.4(F8):c.6995G>A (p.Trp2332Ter) rs2072484506
NM_000132.4(F8):c.7021G>A (p.Glu2341Lys) rs2072484280
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.760A>G (p.Asn254Asp) rs2124131338
NM_000132.4(F8):c.787+5G>C rs1378662017
NM_000132.4(F8):c.797G>A (p.Gly266Glu) rs137852398
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.89A>G (p.Glu30Gly) rs137852378
NM_000132.4(F8):c.940A>C (p.Thr314Pro) rs137852406
NM_000132.4(F8):c.944C>G (p.Ala315Gly) rs2124109874
NM_000132.4(F8):c.986G>A (p.Cys329Tyr) rs137852409
NM_000132.4(F8):c.992T>C (p.Ile331Thr) rs2073442480

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