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

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys)	rs1800386	0.00237
NM_000552.5(VWF):c.4195C>T (p.Arg1399Cys)	rs61750077	0.00010
NM_000132.4(F8):c.5144G>A (p.Arg1715Gln)	rs781876217	0.00003
NM_000130.5(F5):c.1674C>A (p.Tyr558Ter)	rs905672088	0.00001
NM_000130.5(F5):c.436C>T (p.Arg146Ter)	rs767477438	0.00001
NM_000552.5(VWF):c.2560C>T (p.Arg854Trp)	rs61748482	0.00001
NM_019616.4(F7):c.1158T>G (p.His386Gln)	rs121964936	0.00001
NM_000128.4(F11):c.449C>T (p.Thr150Met)	rs1340928778
NM_000130.5(F5):c.4861C>T (p.Arg1621Ter)	rs2526378815
NM_000132.4(F8):c.5453dup (p.Ala1819fs)	rs2523885648
NM_000132.4(F8):c.5587-93C>T	rs1264918703
NM_000132.4(F8):c.984T>G (p.Phe328Leu)	rs782668199
NM_000552.5(VWF):c.1181C>G (p.Ser394Ter)	rs2497227407
NM_000552.5(VWF):c.1506G>A (p.Trp502Ter)	rs1944671082
NM_000552.5(VWF):c.2968-1G>A	rs2497535795
NM_000552.5(VWF):c.3179del (p.Cys1060fs)	rs762105711
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu)	rs61749370

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