List of variants reported as pathogenic for blood coagulation disease by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 34

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HGVS	dbSNP	gnomAD frequency
NM_000506.5(F2):c.*97G>A	rs1799963	0.00979
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln)	rs41276738	0.00377
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp)	rs142572218	0.00088
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_000204.5(CFI):c.355G>A (p.Gly119Arg)	rs141853578	0.00040
NM_019616.4(F7):c.995C>T (p.Ala332Val)	rs36209567	0.00038
NM_000552.5(VWF):c.7390C>T (p.Arg2464Cys)	rs61751286	0.00014
NM_000132.4(F8):c.6089G>A (p.Ser2030Asn)	rs369414658	0.00009
NM_001994.3(F13B):c.1152_1155dup (p.Pro386fs)	rs748757906	0.00007
NM_000128.4(F11):c.1778C>T (p.Thr593Met)	rs145906668	0.00004
NM_000128.4(F11):c.1107C>A (p.Tyr369Ter)	rs773905328	0.00003
NM_000132.4(F8):c.2149C>T (p.Arg717Trp)	rs137852435	0.00002
NM_000128.4(F11):c.1432G>A (p.Gly478Arg)	rs542967227	0.00001
NM_000132.4(F8):c.5302C>T (p.Arg1768Cys)	rs1046670041	0.00001
NM_000195.5(HPS1):c.988-1G>T	rs764927038	0.00001
NM_000312.4(PROC):c.631C>T (p.Arg211Trp)	rs121918143	0.00001
NM_172351.3(CD46):c.820_821del (p.Ser274fs)	rs1191117776	0.00001
NC_000001.11:g.196706898_196873196del
NM_000128.4(F11):c.717dup (p.Thr240fs)
NM_000130.5(F5):c.436C>T (p.Arg146Ter)
NM_000132.4(F8):c.2163G>T (p.Met721Ile)	rs1218576358
NM_000313.4(PROS1):c.1764_1765del (p.Pro589fs)	rs2107125195
NM_000377.3(WAS):c.1453G>A (p.Asp485Asn)	rs1064793293
NM_000377.3(WAS):c.257G>A (p.Arg86His)	rs132630268
NM_000552.5(VWF):c.2438dup (p.Met814fs)
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu)	rs61749370
NM_000552.5(VWF):c.4120C>T (p.Arg1374Cys)	rs61750071
NM_000552.5(VWF):c.7880del (p.Cys2627fs)
NM_001754.5(RUNX1):c.602G>A (p.Arg201Gln)	rs74315450
NM_019616.4(F7):c.1325del (p.Pro442fs)	rs750457207
NM_021871.4(FGA):c.713del (p.Lys238fs)
NM_032383.5(HPS3):c.2424G>A (p.Trp808Ter)
NM_139027.6(ADAMTS13):c.1169G>A (p.Trp390Ter)

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