ClinVar Miner

List of variants in gene combination LOC107303340, VHL reported as likely pathogenic for Von Hippel-Lindau syndrome

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Total variants: 27
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HGVS dbSNP
NM_000551.3(VHL):c.341-25_370dup rs1553619923
NM_000551.3(VHL):c.358A>G (p.Arg120Gly) rs869025642
NM_000551.3(VHL):c.371C>T (p.Thr124Ile) rs193922610
NM_000551.3(VHL):c.392A>G (p.Asn131Ser) rs1553619963
NM_000551.3(VHL):c.407T>C (p.Phe136Ser) rs5030833
NM_000551.3(VHL):c.414A>G (p.Pro138=) rs869025648
NM_000551.3(VHL):c.430G>T (p.Gly144Ter) rs869025650
NM_000551.3(VHL):c.458T>A (p.Leu153Gln) rs193922611
NM_000551.3(VHL):c.463+2T>G rs5030814
NM_000551.3(VHL):c.471dup (p.Leu158fs) rs869025661
NM_000551.3(VHL):c.486C>A (p.Cys162Ter) rs5030622
NM_000551.3(VHL):c.490C>T (p.Gln164Ter) rs5030819
NM_000551.3(VHL):c.492G>T (p.Gln164His) rs1352275281
NM_000551.3(VHL):c.496_506del (p.Val166fs) rs869025663
NM_000551.3(VHL):c.500G>C (p.Arg167Pro) rs5030821
NM_000551.3(VHL):c.524A>G (p.Tyr175Cys) rs193922613
NM_000551.3(VHL):c.547del (p.Ser183fs) rs1559429778
NM_000551.3(VHL):c.563T>A (p.Leu188Gln) rs1559429824
NM_000551.3(VHL):c.563T>C (p.Leu188Pro) rs1559429824
NM_000551.3(VHL):c.565del (p.Glu189fs) rs1559429829
NM_000551.3(VHL):c.587_590dup (p.Asp197fs) rs869025666
NM_000551.3(VHL):c.593T>C (p.Leu198Pro) rs869025667
NM_000551.3(VHL):c.641G>T (p.Ter214Leu) rs869025668
NM_000551.3(VHL):c.642A>G (p.Ter214Trp) rs1559430011
NM_000551.3(VHL):c.642A>T (p.Ter214Cys) rs1559430011
NM_198156.3(VHL):c.341-3195_341-3187delinsACAATTATTTGTGCCATCTCTCAA rs1559428180
NM_198156.3(VHL):c.341-3233_341-3232delinsTT rs869025645

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