List of variants reported as pathogenic for von Willebrand disease type 2 by Genetics and Molecular Pathology, SA Pathology

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000552.5(VWF):c.100C>T (p.Arg34Ter)	rs61753984	0.00001
NM_000552.5(VWF):c.3970G>A (p.Gly1324Ser)	rs61749398	0.00001
NM_000552.5(VWF):c.5335C>T (p.Arg1779Ter)	rs61750606	0.00001
NM_000552.5(VWF):c.5557C>T (p.Arg1853Ter)	rs61750612	0.00001
NM_000552.5(VWF):c.2072del (p.Pro691fs)	rs267607309
NM_000552.5(VWF):c.276dup (p.Asp93Ter)	rs61753988
NM_000552.5(VWF):c.3916C>T (p.Arg1306Trp)	rs61749384
NM_000552.5(VWF):c.3946G>A (p.Val1316Met)	rs61749397
NM_000552.5(VWF):c.4120C>T (p.Arg1374Cys)	rs61750071
NM_000552.5(VWF):c.4121G>A (p.Arg1374His)	rs61750072
NM_000552.5(VWF):c.4883T>C (p.Ile1628Thr)	rs61750584

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