ClinVar Miner

List of variants in gene combination LOC107303340, VHL reported as pathogenic for Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome

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Total variants: 38
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HGVS dbSNP
NC_000003.11:g.(?_10183522)_(10191659_?)del
NC_000003.11:g.(?_10188188)_(10188330_?)del
NC_000003.11:g.(?_10188188)_(10191659_?)del
NC_000003.11:g.(?_10188198)_(10188320_?)del
NC_000003.11:g.(?_10191461)_(10191659_?)del
NM_000551.3(VHL):c.353T>C (p.Leu118Pro) rs5030830
NM_000551.3(VHL):c.355T>C (p.Phe119Leu) rs1553619948
NM_000551.3(VHL):c.357C>G (p.Phe119Leu) rs1559428077
NM_000551.3(VHL):c.370_371AC[2] (p.His125fs) rs869025644
NM_000551.3(VHL):c.414A>G (p.Pro138=) rs869025648
NM_000551.3(VHL):c.415_416TC[2] (p.Leu140fs) rs869025649
NM_000551.3(VHL):c.422dup (p.Asn141fs) rs1553619976
NM_000551.3(VHL):c.430G>T (p.Gly144Ter) rs869025650
NM_000551.3(VHL):c.435_436del (p.Gln145fs) rs869025652
NM_000551.3(VHL):c.449del (p.Asn150fs) rs794727253
NM_000551.3(VHL):c.452T>C (p.Ile151Thr) rs869025655
NM_000551.3(VHL):c.461C>T (p.Pro154Leu)
NM_000551.3(VHL):c.463+1G>A rs869025657
NM_000551.3(VHL):c.463+2T>C
NM_000551.3(VHL):c.464-2A>G rs5030816
NM_000551.3(VHL):c.464-?_*3705del
NM_000551.3(VHL):c.472C>G (p.Leu158Val) rs1559429613
NM_000551.3(VHL):c.477del (p.Glu160fs) rs730882020
NM_000551.3(VHL):c.481C>T (p.Arg161Ter) rs5030818
NM_000551.3(VHL):c.482G>A (p.Arg161Gln) rs730882035
NM_000551.3(VHL):c.486C>G (p.Cys162Trp) rs5030622
NM_000551.3(VHL):c.490C>T (p.Gln164Ter) rs5030819
NM_000551.3(VHL):c.499C>T (p.Arg167Trp) rs5030820
NM_000551.3(VHL):c.500G>A (p.Arg167Gln) rs5030821
NM_000551.3(VHL):c.500G>T (p.Arg167Leu) rs5030821
NM_000551.3(VHL):c.501_502insTTGTCCGT (p.Ser168fs) rs398123483
NM_000551.3(VHL):c.524A>G (p.Tyr175Cys) rs193922613
NM_000551.3(VHL):c.533T>C (p.Leu178Pro) rs5030822
NM_000551.3(VHL):c.540_543del (p.Val181fs) rs869025664
NM_000551.3(VHL):c.548C>A (p.Ser183Ter) rs5030823
NM_000551.3(VHL):c.562C>G (p.Leu188Val) rs5030824
NM_000551.3(VHL):c.598C>T (p.Arg200Trp) rs28940298
Single allele

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