ClinVar Miner

List of variants in gene F8 studied for not specified

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Total variants: 39
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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.2114-100A>G rs36044968 0.00349
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.190G>A (p.Val64Met) rs187738612 0.00022
NM_000132.4(F8):c.1866T>C (p.Leu622=) rs1800290 0.00021
NM_000132.4(F8):c.3169G>A (p.Glu1057Lys) rs28933673 0.00014
NM_000132.4(F8):c.222G>A (p.Thr74=) rs1232517683 0.00012
NM_000132.4(F8):c.1094A>G (p.Tyr365Cys) rs375241473 0.00007
NM_000132.4(F8):c.5009C>T (p.Thr1670Ile) rs200396298 0.00004
NM_000132.4(F8):c.2852C>G (p.Ser951Cys) rs138183956 0.00003
NM_000132.4(F8):c.5144G>A (p.Arg1715Gln) rs781876217 0.00003
NM_000132.4(F8):c.1030A>C (p.Lys344Gln) rs782395704 0.00002
NM_000132.4(F8):c.6652A>G (p.Met2218Val) rs782627131 0.00002
NM_000132.4(F8):c.6381T>C (p.Asp2127=) rs782214402 0.00001
NM_000132.4(F8):c.989A>G (p.His330Arg) rs782498015 0.00001
NM_000132.4(F8):c.1350C>A (p.Tyr450Ter) rs1557281954
NM_000132.4(F8):c.1589A>G (p.Tyr530Cys) rs1557281265
NM_000132.4(F8):c.1601T>C (p.Val534Ala) rs1557281261
NM_000132.4(F8):c.1778T>A (p.Ile593Asn) rs1557280964
NM_000132.4(F8):c.241G>A (p.Ala81Thr)
NM_000132.4(F8):c.241G>T (p.Ala81Ser)
NM_000132.4(F8):c.270del (p.Leu90_Leu91insTer) rs1557285171
NM_000132.4(F8):c.323A>C (p.Lys108Thr) rs137852384
NM_000132.4(F8):c.3780C>G (p.Asp1260Glu) rs1800291
NM_000132.4(F8):c.5219+13_5219+20del
NM_000132.4(F8):c.5220-16del
NM_000132.4(F8):c.5374-19del rs782086610
NM_000132.4(F8):c.5545T>A (p.Phe1849Ile)
NM_000132.4(F8):c.6010A>G (p.Thr2004Ala)
NM_000132.4(F8):c.602G>A (p.Gly201Glu)
NM_000132.4(F8):c.6077A>G (p.His2026Arg)
NM_000132.4(F8):c.6400T>C (p.Tyr2134His)
NM_000132.4(F8):c.6523_6525del (p.Tyr2175del) rs2072706332
NM_000132.4(F8):c.701C>G (p.Ser234Cys)
NM_000132.4(F8):c.766T>A (p.Tyr256Asn) rs1569559955
NM_000132.4(F8):c.839G>A (p.Gly280Asp)

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