List of variants in gene VHL reported as pathogenic by PreventionGenetics, part of Exact Sciences

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: 10

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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.208G>T (p.Glu70Ter)	rs5030802
NM_000551.4(VHL):c.217C>T (p.Gln73Ter)	rs869025619
NM_000551.4(VHL):c.224TCT[1] (p.Phe76del)	rs5030648
NM_000551.4(VHL):c.233A>C (p.Asn78Thr)	rs5030804
NM_000551.4(VHL):c.233A>G (p.Asn78Ser)	rs5030804
NM_000551.4(VHL):c.262T>A (p.Trp88Arg)	rs1553619431
NM_000551.4(VHL):c.320G>A (p.Arg107His)	rs193922609
NM_000551.4(VHL):c.329del (p.His110fs)	rs1559426199
NM_000551.4(VHL):c.334T>C (p.Tyr112His)	rs104893824

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