ClinVar Miner

List of variants in gene F8 reported by GeneDx

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Gene type:
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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_000132.4(F8):c.5998+91T>A rs4898352 0.43854
NM_000132.4(F8):c.6115+103T>C rs4074307 0.43589
NM_000132.4(F8):c.788-343C>G rs1936645 0.41321
NM_000132.4(F8):c.601+1893T>C rs5945269 0.18744
NM_000132.4(F8):c.1010-27G>A rs7058826 0.13707
NM_000132.4(F8):c.3864A>C (p.Ser1288=) rs1800292 0.09246
NM_000132.4(F8):c.222G>A (p.Thr74=) rs1232517683 0.00012
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.1569G>T (p.Leu523=) rs782733685 0.00001
NM_000132.4(F8):c.1660A>G (p.Ser554Gly) rs137852419 0.00001
NM_000132.4(F8):c.1834C>T (p.Arg612Cys) rs137852428 0.00001
NM_000132.4(F8):c.2167G>A (p.Ala723Thr) rs137852436 0.00001
NM_000132.4(F8):c.2732A>G (p.Asp911Gly) rs782671808 0.00001
NM_000132.4(F8):c.3163G>A (p.Asp1055Asn) rs140027831 0.00001
NM_000132.4(F8):c.3603A>T (p.Leu1201Phe) rs782048928 0.00001
NM_000132.4(F8):c.456C>G (p.Ser152Arg) rs781912033 0.00001
NM_000132.4(F8):c.5096A>T (p.Tyr1699Phe) rs28935203 0.00001
NM_000132.4(F8):c.599A>G (p.Glu200Gly) rs782158761 0.00001
NM_000132.4(F8):c.262A>G (p.Met88Val) rs782731044
NM_000132.4(F8):c.3780C>G (p.Asp1260Glu) rs1800291
NM_000132.4(F8):c.4473C>A (p.Tyr1491Ter) rs1557278411
NM_000132.4(F8):c.4757G>A (p.Trp1586Ter)
NM_000132.4(F8):c.5042T>C (p.Ile1681Thr)
NM_000132.4(F8):c.5399G>A (p.Arg1800His) rs137852442
NM_000132.4(F8):c.5587-93C>T rs1264918703
NM_000132.4(F8):c.580G>C (p.Ala194Pro)
NM_000132.4(F8):c.6103G>A (p.Val2035Met) rs1057521074
NM_000132.4(F8):c.6274-304GT[13] rs57253105
NM_000132.4(F8):c.6274-304GT[14] rs57253105
NM_000132.4(F8):c.6299T>C (p.Ile2100Thr)
NM_000132.4(F8):c.641T>A (p.Phe214Tyr) rs2073563946
NM_000132.4(F8):c.902G>A (p.Arg301His) rs137852403
NM_000132.4(F8):c.926C>T (p.Pro309Leu) rs1603435401

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