List of variants reported as pathogenic for coagulation protein disease by Fulgent Genetics, Fulgent Genetics

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Total variants: 32

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HGVS	dbSNP	gnomAD frequency
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln)	rs41276738	0.00377
NM_000301.5(PLG):c.112A>G (p.Lys38Glu)	rs73015965	0.00282
NM_019616.4(F7):c.1025G>A (p.Arg342Gln)	rs121964926	0.00118
NM_000128.4(F11):c.403G>T (p.Glu135Ter)	rs121965063	0.00066
NM_000128.4(F11):c.901T>C (p.Phe301Leu)	rs121965064	0.00065
NM_021871.4(FGA):c.510+1G>T	rs146387238	0.00009
NM_019616.4(F7):c.364+1G>A	rs1056071555	0.00006
NM_019616.4(F7):c.845C>T (p.Ala282Val)	rs121964931	0.00006
NM_000128.4(F11):c.438C>A (p.Cys146Ter)	rs121965066	0.00005
NM_000132.4(F8):c.2150G>A (p.Arg717Gln)	rs942909873	0.00005
NM_000133.4(F9):c.316G>A (p.Gly106Ser)	rs137852233	0.00004
NM_000128.4(F11):c.1107C>A (p.Tyr369Ter)	rs773905328	0.00003
NM_000128.4(F11):c.1489C>T (p.Arg497Ter)	rs375422404	0.00003
NM_000132.4(F8):c.2149C>T (p.Arg717Trp)	rs137852435	0.00002
NM_021871.4(FGA):c.502C>T (p.Arg168Ter)	rs755117226	0.00002
NM_000128.4(F11):c.1556G>A (p.Trp519Ter)	rs201007090	0.00001
NM_000128.4(F11):c.67C>T (p.Gln23Ter)	rs768409400	0.00001
NM_000128.4(F11):c.841C>T (p.Gln281Ter)	rs770505620	0.00001
NM_000132.4(F8):c.2167G>A (p.Ala723Thr)	rs137852436	0.00001
NM_000132.4(F8):c.6622C>G (p.Gln2208Glu)	rs1472169963	0.00001
NM_021871.4(FGA):c.104G>A (p.Arg35His)	rs121909607	0.00001
NM_021871.4(FGA):c.1634A>T (p.Glu545Val)	rs121909612	0.00001
NM_021871.4(FGA):c.532C>T (p.Arg178Ter)	rs140911890	0.00001
NM_000128.4(F11):c.1075del (p.Ile359fs)	rs786204429
NM_000128.4(F11):c.1234C>T (p.Gln412Ter)	rs538083600
NM_000128.4(F11):c.1313C>A (p.Ser438Ter)	rs786204724
NM_000132.4(F8):c.4121_4124del (p.Ile1374fs)	rs387906452
NM_000132.4(F8):c.4379dup (p.Asn1460fs)	rs387906455
NM_000505.4(F12):c.983C>A (p.Thr328Lys)	rs118204456
NM_000552.5(VWF):c.2435del (p.Pro812fs)	rs62643632
NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln)	rs61749370
NM_000552.5(VWF):c.3946G>A (p.Val1316Met)	rs61749397

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