ClinVar Miner

List of variants reported as pathogenic for Von Hippel-Lindau syndrome by OMIM

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Total variants: 17
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HGVS dbSNP
NM_000551.3(VHL):c.263G>C (p.Trp88Ser) rs119103277
NM_000551.3(VHL):c.292T>C (p.Tyr98His) rs5030809
NM_000551.3(VHL):c.334T>A (p.Tyr112Asn) rs104893824
NM_000551.3(VHL):c.334T>C (p.Tyr112His) rs104893824
NM_000551.3(VHL):c.491A>G (p.Gln164Arg) rs267607170
NM_000551.3(VHL):c.496G>T (p.Val166Phe) rs104893825
NM_000551.3(VHL):c.499C>G (p.Arg167Gly) rs5030820
NM_000551.3(VHL):c.499C>T (p.Arg167Trp) rs5030820
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) rs104893829
NM_000551.4(VHL):c.250G>T (p.Val84Leu) rs5030827
NM_000551.4(VHL):c.414A>G (p.Pro138=) rs869025648
NM_000551.4(VHL):c.481C>T (p.Arg161Ter) rs5030818
NM_000551.4(VHL):c.500G>A (p.Arg167Gln) rs5030821
NM_000551.4(VHL):c.562C>G (p.Leu188Val) rs5030824
NM_000551.4(VHL):c.[340+617C>G;340+648T>C]
NM_198156.3(VHL):c.223_225del (p.Ile75del) rs794729660
NM_198156.3(VHL):c.341-3209A>C rs119103278

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