List of variants in gene VWF reported as likely pathogenic by Quest Diagnostics Nichols Institute San Juan Capistrano

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_000552.5(VWF):c.3835G>A (p.Val1279Ile)	rs61749376	0.00048
NM_000552.5(VWF):c.7390C>T (p.Arg2464Cys)	rs61751286	0.00014
NM_000552.5(VWF):c.4378C>T (p.Leu1460Phe)	rs61750088	0.00002
NM_000552.5(VWF):c.3390C>T (p.Cys1130=)	rs1591865617	0.00001
NM_000552.5(VWF):c.3613C>T (p.Arg1205Cys)	rs373787920	0.00001
NM_000552.5(VWF):c.3970G>A (p.Gly1324Ser)	rs61749398	0.00001
NM_000552.5(VWF):c.4309G>A (p.Ala1437Thr)	rs61750084	0.00001
NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln)	rs61749370
NM_000552.5(VWF):c.3943C>T (p.Arg1315Cys)	rs61749395
NM_000552.5(VWF):c.3974C>T (p.Ser1325Phe)
NM_000552.5(VWF):c.4105T>A (p.Phe1369Ile)	rs61750069
NM_000552.5(VWF):c.4160G>T (p.Ser1387Ile)	rs1565832072
NM_000552.5(VWF):c.4247T>C (p.Ile1416Thr)	rs61750081
NM_000552.5(VWF):c.4273A>T (p.Ile1425Phe)	rs61750083
NM_000552.5(VWF):c.4820T>A (p.Val1607Asp)	rs61750579
NM_000552.5(VWF):c.7081+1G>A
NM_000552.5(VWF):c.7159C>T (p.Gln2387Ter)
NM_000552.5(VWF):c.7464C>T (p.Gly2488=)	rs900907976

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