List of variants in gene VHL reported as pathogenic for not provided

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: 19

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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.164_171dup (p.Arg60fs)	rs886041345
NM_000551.4(VHL):c.191G>C (p.Arg64Pro)	rs104893826
NM_000551.4(VHL):c.194C>A (p.Ser65Ter)	rs5030826
NM_000551.4(VHL):c.194C>G (p.Ser65Trp)	rs5030826
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.245G>C (p.Arg82Pro)	rs794726890
NM_000551.4(VHL):c.250G>T (p.Val84Leu)	rs5030827
NM_000551.4(VHL):c.256C>G (p.Pro86Ala)	rs398123481
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.262T>A (p.Trp88Arg)	rs1553619431
NM_000551.4(VHL):c.263G>A (p.Trp88Ter)	rs119103277
NM_000551.4(VHL):c.329del (p.His110fs)	rs1559426199
NM_000551.4(VHL):c.340+1G>A	rs730882032

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