List of variants reported as pathogenic for blood coagulation disease by Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center

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Total variants: 4

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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_000195.5(HPS1):c.1189del (p.Gln397fs)	rs281865084
NM_000195.5(HPS1):c.972dup (p.Met325fs)	rs281865082

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