List of variants in gene VHL reported as pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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: 21

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HGVS	dbSNP	gnomAD frequency
NM_000551.4(VHL):c.292T>C (p.Tyr98His)	rs5030809	0.00001
NM_000551.4(VHL):c.194C>A (p.Ser65Ter)	rs5030826
NM_000551.4(VHL):c.208G>A (p.Glu70Lys)	rs5030802
NM_000551.4(VHL):c.233A>G (p.Asn78Ser)	rs5030804
NM_000551.4(VHL):c.238A>C (p.Ser80Arg)	rs786202787
NM_000551.4(VHL):c.245G>C (p.Arg82Pro)	rs794726890
NM_000551.4(VHL):c.250G>C (p.Val84Leu)	rs5030827
NM_000551.4(VHL):c.256C>T (p.Pro86Ser)	rs398123481
NM_000551.4(VHL):c.257C>G (p.Pro86Arg)	rs730882034
NM_000551.4(VHL):c.257C>T (p.Pro86Leu)	rs730882034
NM_000551.4(VHL):c.262T>A (p.Trp88Arg)	rs1553619431
NM_000551.4(VHL):c.262T>C (p.Trp88Arg)	rs1553619431
NM_000551.4(VHL):c.266T>C (p.Leu89Pro)	rs5030807
NM_000551.4(VHL):c.278G>A (p.Gly93Asp)	rs1553619440
NM_000551.4(VHL):c.292T>A (p.Tyr98Asn)
NM_000551.4(VHL):c.313A>C (p.Thr105Pro)	rs1553619461
NM_000551.4(VHL):c.320G>C (p.Arg107Pro)	rs193922609
NM_000551.4(VHL):c.331A>G (p.Ser111Gly)	rs1559426203
NM_000551.4(VHL):c.332G>A (p.Ser111Asn)	rs869025631
NM_000551.4(VHL):c.334T>A (p.Tyr112Asn)	rs104893824
NM_000551.4(VHL):c.334T>C (p.Tyr112His)	rs104893824

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