List of variants reported as pathogenic for Von Hippel-Lindau syndrome by Clinical Genomics Labs, University Health Network

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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.193T>C (p.Ser65Pro)	rs869025616
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.263G>A (p.Trp88Ter)	rs119103277
NM_000551.4(VHL):c.277G>A (p.Gly93Ser)	rs5030808
NM_000551.4(VHL):c.300dup (p.Leu101fs)	rs869025626
NM_000551.4(VHL):c.481C>T (p.Arg161Ter)	rs5030818
NM_000551.4(VHL):c.482G>A (p.Arg161Gln)	rs730882035
NM_000551.4(VHL):c.500G>A (p.Arg167Gln)	rs5030821

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