ClinVar Miner

List of variants in gene F8 reported as uncertain significance for Hereditary factor VIII deficiency disease

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Gene type:
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Total variants: 98
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HGVS dbSNP gnomAD frequency
NM_000132.4(F8):c.*426G>A rs782273756 0.00052
NM_000132.4(F8):c.*78C>T rs782435894 0.00047
NM_000132.4(F8):c.190G>A (p.Val64Met) rs187738612 0.00022
NM_000132.4(F8):c.1018G>A (p.Glu340Lys) rs781954986 0.00019
NM_000132.4(F8):c.*1166A>G rs984572217 0.00018
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.3169G>A (p.Glu1057Lys) rs28933673 0.00014
NM_000132.4(F8):c.*1731T>C rs782700848 0.00010
NM_000132.4(F8):c.1337G>A (p.Arg446Gln) rs781889613 0.00010
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.2696G>A (p.Ser899Asn) rs145089334 0.00008
NM_000132.4(F8):c.6724G>A (p.Val2242Met) rs782654096 0.00008
NM_000132.4(F8):c.1094A>G (p.Tyr365Cys) rs375241473 0.00007
NM_000132.4(F8):c.4442T>C (p.Leu1481Pro) rs1800294 0.00007
NM_000132.4(F8):c.2299C>T (p.His767Tyr) rs782115513 0.00005
NM_000132.4(F8):c.2840C>G (p.Pro947Arg) rs782318401 0.00005
NM_000132.4(F8):c.5024A>G (p.Gln1675Arg) rs782280813 0.00005
NM_000132.4(F8):c.6374G>C (p.Ser2125Thr) rs782363141 0.00005
NM_000132.4(F8):c.6871A>G (p.Thr2291Ala) rs139348729 0.00005
NM_000132.4(F8):c.748A>G (p.Met250Val) rs781943293 0.00005
NM_000132.4(F8):c.*460G>A rs782195878 0.00004
NM_000132.4(F8):c.3534G>C (p.Lys1178Asn) rs1279491966 0.00004
NM_000132.4(F8):c.4045A>G (p.Arg1349Gly) rs937701134 0.00004
NM_000132.4(F8):c.4828G>T (p.Ala1610Ser) rs782127226 0.00004
NM_000132.4(F8):c.5009C>T (p.Thr1670Ile) rs200396298 0.00004
NM_000132.4(F8):c.*1175G>C rs950453657 0.00003
NM_000132.4(F8):c.*288C>A rs1044626956 0.00003
NM_000132.4(F8):c.5950G>C (p.Val1984Leu) rs782504844 0.00003
NM_000132.4(F8):c.*1362A>T rs1032816312 0.00002
NM_000132.4(F8):c.*915G>A rs1259930797 0.00002
NM_000132.4(F8):c.1748A>G (p.Asn583Ser) rs782657516 0.00002
NM_000132.4(F8):c.*975A>G rs892955433 0.00001
NM_000132.4(F8):c.-157A>G rs1057515826 0.00001
NM_000132.4(F8):c.1173C>T (p.Arg391=) rs1411642179 0.00001
NM_000132.4(F8):c.1231G>A (p.Asp411Asn) rs1324147584 0.00001
NM_000132.4(F8):c.1573G>A (p.Gly525Arg) rs1357976820 0.00001
NM_000132.4(F8):c.1587A>G (p.Lys529=) rs1369480074 0.00001
NM_000132.4(F8):c.1835G>A (p.Arg612His) rs782473762 0.00001
NM_000132.4(F8):c.2243A>G (p.Tyr748Cys) rs1160871723 0.00001
NM_000132.4(F8):c.4411A>G (p.Met1471Val) rs782058716 0.00001
NM_000132.4(F8):c.456C>G (p.Ser152Arg) rs781912033 0.00001
NM_000132.4(F8):c.5012G>A (p.Arg1671His) rs782166477 0.00001
NM_000132.4(F8):c.5063C>T (p.Ser1688Leu) rs782235155 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.6623A>G (p.Gln2208Arg) rs782198570 0.00001
NM_000132.4(F8):c.6658G>C (p.Ala2220Pro) rs782548763 0.00001
NM_000132.4(F8):c.978A>G (p.Leu326=) rs782374508 0.00001
NM_000132.4(F8):c.*1017C>A rs1603430909
NM_000132.4(F8):c.*176G>A rs2072481964
NM_000132.4(F8):c.*862A>G rs1057515824
NM_000132.4(F8):c.*908T>G rs2072478087
NM_000132.4(F8):c.1010-9T>A rs1603435287
NM_000132.4(F8):c.102C>G (p.Asp34Glu)
NM_000132.4(F8):c.1439T>C (p.Leu480Pro) rs1256548419
NM_000132.4(F8):c.1468A>G (p.Arg490Gly) rs1603435026
NM_000132.4(F8):c.1601T>C (p.Val534Ala) rs1557281261
NM_000132.4(F8):c.1652A>G (p.Tyr551Cys) rs2073368605
NM_000132.4(F8):c.1712T>G (p.Leu571Arg)
NM_000132.4(F8):c.1724A>C (p.Lys575Thr) rs2073367952
NM_000132.4(F8):c.1727A>T (p.Glu576Val)
NM_000132.4(F8):c.1830A>G (p.Ile610Met) rs931279960
NM_000132.4(F8):c.1835G>T (p.Arg612Leu) rs782473762
NM_000132.4(F8):c.1969T>C (p.Tyr657His) rs2124082280
NM_000132.4(F8):c.2009TCT[2] (p.Phe672del) rs1476178386
NM_000132.4(F8):c.2150G>T (p.Arg717Leu) rs942909873
NM_000132.4(F8):c.2573C>T (p.Pro858Leu) rs2124053040
NM_000132.4(F8):c.2618G>A (p.Gly873Asp) rs2073195544
NM_000132.4(F8):c.2776C>T (p.Pro926Ser) rs2124052509
NM_000132.4(F8):c.2T>A (p.Met1Lys)
NM_000132.4(F8):c.3144G>T (p.Trp1048Cys) rs1060499784
NM_000132.4(F8):c.3213G>A (p.Met1071Ile)
NM_000132.4(F8):c.3744A>T (p.Leu1248Phe) rs2124050282
NM_000132.4(F8):c.461C>T (p.Thr154Ile) rs2073597378
NM_000132.4(F8):c.5005A>G (p.Ile1669Val) rs2124047405
NM_000132.4(F8):c.505G>A (p.Asp169Asn) rs2073596825
NM_000132.4(F8):c.5132A>C (p.Gln1711Pro)
NM_000132.4(F8):c.5146C>A (p.His1716Asn) rs2073172888
NM_000132.4(F8):c.5267A>T (p.Glu1756Val) rs2124000688
NM_000132.4(F8):c.5576A>T (p.Asp1859Val) rs2123997719
NM_000132.4(F8):c.5582A>G (p.Asp1861Gly) rs2123997685
NM_000132.4(F8):c.5815G>C (p.Ala1939Pro) rs1603432979
NM_000132.4(F8):c.5863C>G (p.Gln1955Glu) rs2123996340
NM_000132.4(F8):c.6123G>C (p.Gln2041His) rs2123993594
NM_000132.4(F8):c.6322G>C (p.Ala2108Pro) rs2148583727
NM_000132.4(F8):c.6346T>C (p.Tyr2116His) rs781870586
NM_000132.4(F8):c.6362T>A (p.Ile2121Asn)
NM_000132.4(F8):c.6523_6525del (p.Tyr2175del) rs2072706332
NM_000132.4(F8):c.65G>A (p.Arg22Lys) rs2073765087
NM_000132.4(F8):c.6709G>T (p.Ala2237Ser) rs2148567205
NM_000132.4(F8):c.6834G>T (p.Glu2278Asp) rs2072682134
NM_000132.4(F8):c.6929C>T (p.Thr2310Ile) rs373079141
NM_000132.4(F8):c.793A>G (p.Ile265Val) rs2073445187
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

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