ClinVar Miner

List of variants in gene F8 reported by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 77
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HGVS dbSNP gnomAD frequency
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.1444-22T>C rs5986899 0.01075
NM_000132.4(F8):c.1508G>A (p.Arg503His) rs35383156 0.00563
NM_000132.4(F8):c.3621C>T (p.His1207=) rs28370212 0.00371
NM_000132.4(F8):c.4467C>G (p.Val1489=) rs35207609 0.00134
NM_000132.4(F8):c.4333T>C (p.Ser1445Pro) rs146153504 0.00129
NM_000132.4(F8):c.2214C>T (p.Tyr738=) rs78373805 0.00125
NM_000132.4(F8):c.5219+12T>C rs190152270 0.00067
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.396A>C (p.Glu132Asp) rs137852388 0.00018
NM_000132.4(F8):c.2383A>G (p.Arg795Gly) rs2228152 0.00016
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.1094A>G (p.Tyr365Cys) rs375241473 0.00007
NM_000132.4(F8):c.3376A>T (p.Arg1126Trp) rs199630813 0.00004
NM_000132.4(F8):c.248C>G (p.Pro83Arg) rs781974394 0.00003
NM_000132.4(F8):c.2215G>A (p.Glu739Lys) rs28937285 0.00002
NM_000132.4(F8):c.5123G>A (p.Arg1708His) rs111033614 0.00002
NM_000132.4(F8):c.601+1632G>A rs387906429 0.00002
NM_000132.4(F8):c.1660A>G (p.Ser554Gly) rs137852419 0.00001
NM_000132.4(F8):c.6381T>C (p.Asp2127=) rs782214402 0.00001
NM_000132.4(F8):c.6623A>G (p.Gln2208Arg) rs782198570 0.00001
NM_000132.4(F8):c.121G>A (p.Gly41Ser)
NM_000132.4(F8):c.1241A>G (p.Tyr414Cys)
NM_000132.4(F8):c.1309C>T (p.Arg437Trp)
NM_000132.4(F8):c.144-14_144-10del
NM_000132.4(F8):c.157G>C (p.Val53Leu)
NM_000132.4(F8):c.1904G>A (p.Ser635Asn)
NM_000132.4(F8):c.2103G>A (p.Met701Ile)
NM_000132.4(F8):c.2113+472_2113+473del
NM_000132.4(F8):c.221C>T (p.Thr74Met)
NM_000132.4(F8):c.2521C>T (p.Pro841Ser)
NM_000132.4(F8):c.26T>G (p.Phe9Cys)
NM_000132.4(F8):c.2720C>T (p.Thr907Ile)
NM_000132.4(F8):c.2961G>A (p.Glu987=)
NM_000132.4(F8):c.3145C>A (p.Gln1049Lys)
NM_000132.4(F8):c.3342G>A (p.Ser1114=)
NM_000132.4(F8):c.34T>C (p.Cys12Arg)
NM_000132.4(F8):c.355G>C (p.Ala119Pro)
NM_000132.4(F8):c.3619C>A (p.His1207Asn)
NM_000132.4(F8):c.3674A>G (p.Gln1225Arg)
NM_000132.4(F8):c.3731A>G (p.Lys1244Arg)
NM_000132.4(F8):c.3780C>G (p.Asp1260Glu) rs1800291
NM_000132.4(F8):c.389G>C (p.Gly130Ala)
NM_000132.4(F8):c.4300C>G (p.His1434Asp)
NM_000132.4(F8):c.4658A>G (p.Lys1553Arg)
NM_000132.4(F8):c.476T>C (p.Val159Ala) rs2124141036
NM_000132.4(F8):c.4912A>G (p.Lys1638Glu)
NM_000132.4(F8):c.5110A>C (p.Asn1704His)
NM_000132.4(F8):c.517C>T (p.Leu173Phe)
NM_000132.4(F8):c.520A>G (p.Thr174Ala)
NM_000132.4(F8):c.5301C>T (p.Tyr1767=)
NM_000132.4(F8):c.5320C>T (p.His1774Tyr)
NM_000132.4(F8):c.5399G>A (p.Arg1800His) rs137852442
NM_000132.4(F8):c.541G>A (p.Val181Met) rs137852394
NM_000132.4(F8):c.5517A>G (p.Gln1839=)
NM_000132.4(F8):c.5649C>A (p.Asn1883Lys)
NM_000132.4(F8):c.5843T>C (p.Leu1948Pro)
NM_000132.4(F8):c.5881T>C (p.Trp1961Arg)
NM_000132.4(F8):c.5999-1G>A
NM_000132.4(F8):c.6164A>C (p.Gln2055Pro)
NM_000132.4(F8):c.6188-2A>G
NM_000132.4(F8):c.6429+1G>A
NM_000132.4(F8):c.6430-2A>G
NM_000132.4(F8):c.6449A>T (p.Asp2150Val)
NM_000132.4(F8):c.6523_6525del (p.Tyr2175del) rs2072706332
NM_000132.4(F8):c.6551A>G (p.Glu2184Gly)
NM_000132.4(F8):c.6576T>A (p.Ser2192Arg)
NM_000132.4(F8):c.6724-2A>G
NM_000132.4(F8):c.6929C>T (p.Thr2310Ile) rs373079141
NM_000132.4(F8):c.787+3A>G rs2073548872
NM_000132.4(F8):c.902G>A (p.Arg301His) rs137852403
NM_000132.4(F8):c.923C>T (p.Ser308Leu) rs137852404
NM_000132.4(F8):c.979C>G (p.Leu327Val) rs1603435395

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