List of variants in gene VWF reported as pathogenic by NIHR Bioresource Rare Diseases, University of Cambridge

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: 24

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HGVS	dbSNP	gnomAD frequency
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln)	rs41276738	0.00377
NM_000552.5(VWF):c.658-3C>A	rs377196768	0.00007
NM_000552.5(VWF):c.3379+1G>A	rs2363337	0.00002
NM_000552.5(VWF):c.5557C>T (p.Arg1853Ter)	rs61750612	0.00001
NM_000552.5(VWF):c.221-10_532+52del	rs1591924188
NM_000552.5(VWF):c.2435del (p.Pro812fs)	rs62643632
NM_000552.5(VWF):c.2921G>A (p.Trp974Ter)	rs1591870340
NM_000552.5(VWF):c.3437A>G (p.Tyr1146Cys)	rs267607326
NM_000552.5(VWF):c.3614G>A (p.Arg1205His)	rs121964895
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu)	rs61749370
NM_000552.5(VWF):c.3916C>T (p.Arg1306Trp)	rs61749384
NM_000552.5(VWF):c.3922C>T (p.Arg1308Cys)	rs61749387
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.4453del (p.Val1485fs)	rs61750095
NM_000552.5(VWF):c.4789C>T (p.Arg1597Trp)	rs61750117
NM_000552.5(VWF):c.4790G>A (p.Arg1597Gln)	rs61750577
NM_000552.5(VWF):c.4883T>C (p.Ile1628Thr)	rs61750584
NM_000552.5(VWF):c.50dup (p.Leu17fs)	rs751286556
NM_000552.5(VWF):c.5621-47_5842+51del	rs1591857613
NM_000552.5(VWF):c.7080C>A (p.Cys2360Ter)	rs111597150
NM_000552.5(VWF):c.7254_7255del (p.Cys2418fs)	rs1591841452
NM_000552.5(VWF):c.7360_7376del (p.Thr2454fs)	rs1591838814

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