List of variants reported as pathogenic for blood coagulation disease by Juno Genomics, Hangzhou Juno Genomics, Inc

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Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln)	rs41276738	0.00377
NM_000128.4(F11):c.943G>A (p.Glu315Lys)	rs281875257	0.00006
NM_000552.5(VWF):c.2446C>T (p.Arg816Trp)	rs121964894	0.00004
NM_001001548.3(CD36):c.220C>T (p.Gln74Ter)	rs545489204	0.00002
NM_021871.4(FGA):c.502C>T (p.Arg168Ter)	rs755117226	0.00002
NM_000128.4(F11):c.841C>T (p.Gln281Ter)	rs770505620	0.00001
NM_000212.3(ITGB3):c.719G>A (p.Arg240Gln)	rs121918444	0.00001
NM_000312.4(PROC):c.1218G>A (p.Met406Ile)	rs780456728	0.00001
NM_000313.4(PROS1):c.1680T>A (p.Tyr560Ter)	rs199469503	0.00001
NM_000419.5(ITGA2B):c.2333A>C (p.Gln778Pro)	rs74475415	0.00001
NM_000488.4(SERPINC1):c.685C>T (p.Arg229Ter)	rs1657743081	0.00001
NM_001001548.3(CD36):c.1142T>G (p.Leu381Ter)	rs775478465	0.00001
NM_019616.4(F7):c.615+1G>T	rs769452933	0.00001
NM_021870.2(FGG):c.902G>A (p.Arg301His)	rs121913088	0.00001
NM_000128.4(F11):c.214C>T (p.Arg72Ter)
NM_000132.4(F8):c.4379dup (p.Asn1460fs)	rs387906455
NM_000132.4(F8):c.6506G>A (p.Arg2169His)	rs137852461
NM_000133.4(F9):c.892C>T (p.Arg298Ter)	rs137852250
NM_000195.5(HPS1):c.187G>T (p.Glu63Ter)	rs1591120765
NM_000377.3(WAS):c.629C>G (p.Ser210Ter)
NM_000419.5(ITGA2B):c.1750C>T (p.Arg584Ter)	rs137852906
NM_000488.4(SERPINC1):c.481C>T (p.Arg161Ter)	rs121909562
NM_000505.4(F12):c.303_304del (p.His101fs)
NM_000552.5(VWF):c.3614G>A (p.Arg1205His)	rs121964895
NM_001001548.3(CD36):c.332_333del (p.Thr111fs)	rs572295823
NM_005570.4(LMAN1):c.1366C>T (p.Arg456Ter)
NM_021870.2(FGG):c.901C>T (p.Arg301Cys)	rs121913087
NM_021870.3(FGG):c.124-2A>G
NM_021871.4(FGA):c.448C>T (p.Gln150Ter)	rs763715993

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