List of variants reported as pathogenic for blood coagulation disease by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 12

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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.403G>T (p.Glu135Ter)	rs121965063	0.00066
NM_139027.6(ADAMTS13):c.3975dup (p.Glu1326fs)	rs387906343	0.00006
NM_032383.5(HPS3):c.1163+1G>A	rs201227603	0.00005
NM_000552.5(VWF):c.2446C>T (p.Arg816Trp)	rs121964894	0.00004
NM_000128.4(F11):c.1432G>A (p.Gly478Arg)	rs542967227	0.00001
NM_000212.3(ITGB3):c.718C>T (p.Arg240Trp)	rs121918446	0.00001
NM_000506.3(F2):c.1381C>T (p.Arg461Trp)	rs121918478	0.00001
NM_000186.4(CFH):c.3493+1G>A	rs1387205085
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs)	rs281865163
NM_000195.5(HPS1):c.972dup (p.Met325fs)	rs281865082
NM_021870.3(FGG):c.1022G>A (p.Trp341Ter)	rs1553965519

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