ClinVar Miner

List of variants in gene combination LOC107303340, VHL reported as pathogenic by OMIM

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Gene type:
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Total variants: 22
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HGVS dbSNP
NM_000551.3(VHL):c.388G>C (p.Val130Leu) rs104893830
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_000551.3(VHL):c.548C>A (p.Ser183Ter) rs5030823
NM_000551.3(VHL):c.574C>T (p.Pro192Ser) rs28940300
NM_000551.4(VHL):c.340+694_340+711dup rs1575923363
NM_000551.4(VHL):c.340+770T>C rs1346312258
NM_000551.4(VHL):c.376G>A (p.Asp126Asn) rs104893831
NM_000551.4(VHL):c.413C>T (p.Pro138Leu) rs780178275
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.548C>T (p.Ser183Leu) rs5030823
NM_000551.4(VHL):c.562C>G (p.Leu188Val) rs5030824
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) rs28940298
NM_000551.4(VHL):c.[340+617C>G;340+648T>C]
NM_001354723.2(VHL):c.*125C>G rs28940301
NM_001354723.2(VHL):c.*42T>C rs28940297
NM_198156.3(VHL):c.341-3209A>C rs119103278
NM_198156.3(VHL):c.341-3238G>T rs104893831

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