List of variants in gene VHL reported as uncertain significance by Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

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: 15

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HGVS	dbSNP	gnomAD frequency
NM_000551.4(VHL):c.241C>T (p.Pro81Ser)	rs104893829	0.00039
NM_000551.4(VHL):c.188T>A (p.Leu63Gln)	rs104893827
NM_000551.4(VHL):c.201C>A (p.Asn67Lys)	rs769658318
NM_000551.4(VHL):c.203C>T (p.Ser68Leu)	rs869025617
NM_000551.4(VHL):c.221T>A (p.Val74Asp)	rs5030803
NM_000551.4(VHL):c.224T>G (p.Ile75Ser)	rs1064794271
NM_000551.4(VHL):c.227T>A (p.Phe76Tyr)	rs730882033
NM_000551.4(VHL):c.227T>C (p.Phe76Ser)	rs730882033
NM_000551.4(VHL):c.250G>A (p.Val84Met)	rs5030827
NM_000551.4(VHL):c.278G>T (p.Gly93Val)	rs1553619440
NM_000551.4(VHL):c.287A>C (p.Gln96Pro)	rs1559426089
NM_000551.4(VHL):c.293A>C (p.Tyr98Ser)	rs864321643
NM_000551.4(VHL):c.326T>A (p.Ile109Asn)	rs398123482
NM_000551.4(VHL):c.332G>T (p.Ser111Ile)	rs869025631
NM_000551.4(VHL):c.335A>G (p.Tyr112Cys)	rs869025633

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