ClinVar Miner

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

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Gene type:
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Total variants: 113
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HGVS dbSNP gnomAD frequency
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) rs28940298 0.00010
NM_000551.4(VHL):c.562C>G (p.Leu188Val) rs5030824 0.00004
NM_000551.4(VHL):c.628C>T (p.Arg210Trp) rs774380450 0.00003
NM_000551.4(VHL):c.376G>A (p.Asp126Asn) rs104893831 0.00002
NM_000551.4(VHL):c.340+770T>C rs1346312258 0.00001
NM_000551.4(VHL):c.341-25_370dup rs1553619923 0.00001
NM_000551.4(VHL):c.377A>G (p.Asp126Gly) rs1354593943 0.00001
NM_000551.4(VHL):c.429C>T (p.Asp143=) rs773556807 0.00001
NM_000551.4(VHL):c.492G>C (p.Gln164His) rs1352275281 0.00001
NM_000551.4(VHL):c.499C>T (p.Arg167Trp) rs5030820 0.00001
NM_000551.4(VHL):c.538A>G (p.Ile180Val) rs377715747 0.00001
NM_000551.4(VHL):c.340+574A>T rs982745672
NM_000551.4(VHL):c.340+694_340+711dup rs1575923363
NM_000551.4(VHL):c.341-3T>G rs1131690965
NM_000551.4(VHL):c.344A>C (p.His115Pro) rs5030812
NM_000551.4(VHL):c.345C>A (p.His115Gln) rs864622646
NM_000551.4(VHL):c.350G>C (p.Trp117Ser)
NM_000551.4(VHL):c.351G>A (p.Trp117Ter)
NM_000551.4(VHL):c.356_357insGG (p.Phe119fs) rs1131691526
NM_000551.4(VHL):c.357C>A (p.Phe119Leu)
NM_000551.4(VHL):c.358A>G (p.Arg120Gly) rs869025642
NM_000551.4(VHL):c.362A>G (p.Asp121Gly) rs5030832
NM_000551.4(VHL):c.362A>T (p.Asp121Val) rs5030832
NM_000551.4(VHL):c.365C>T (p.Ala122Val) rs1696261924
NM_000551.4(VHL):c.371C>T (p.Thr124Ile) rs193922610
NM_000551.4(VHL):c.376G>T (p.Asp126Tyr) rs104893831
NM_000551.4(VHL):c.381_382delinsTT (p.Leu128Phe) rs869025645
NM_000551.4(VHL):c.383T>C (p.Leu128Pro) rs2125128327
NM_000551.4(VHL):c.391A>T (p.Asn131Tyr) rs2125128340
NM_000551.4(VHL):c.392A>G (p.Asn131Ser) rs1553619963
NM_000551.4(VHL):c.393C>A (p.Asn131Lys) rs1064794272
NM_000551.4(VHL):c.395A>C (p.Gln132Pro) rs1347416980
NM_000551.4(VHL):c.397A>C (p.Thr133Pro) rs1131690961
NM_000551.4(VHL):c.402_428del (p.Glu134_Val142del)
NM_000551.4(VHL):c.407T>C (p.Phe136Ser) rs5030833
NM_000551.4(VHL):c.414A>G (p.Pro138=) rs869025648
NM_000551.4(VHL):c.416C>T (p.Ser139Phe) rs587780732
NM_000551.4(VHL):c.419_427delinsACAATTATTTGTGCCATCTCTCAA (p.Leu140_Asp143delinsHisAsnTyrLeuCysHisLeuSerAsn) rs1559428180
NM_000551.4(VHL):c.430G>T (p.Gly144Ter) rs869025650
NM_000551.4(VHL):c.433_439del (p.Gln145fs) rs1559428217
NM_000551.4(VHL):c.446C>T (p.Ala149Val) rs1696266503
NM_000551.4(VHL):c.449del (p.Asn150fs) rs794727253
NM_000551.4(VHL):c.451A>G (p.Ile151Val) rs876659313
NM_000551.4(VHL):c.458T>A (p.Leu153Gln) rs193922611
NM_000551.4(VHL):c.460C>A (p.Pro154Thr)
NM_000551.4(VHL):c.460C>G (p.Pro154Ala) rs1553619993
NM_000551.4(VHL):c.460C>T (p.Pro154Ser) rs1553619993
NM_000551.4(VHL):c.462A>G (p.Pro154=) rs1060503562
NM_000551.4(VHL):c.462del (p.Val155fs) rs1559428267
NM_000551.4(VHL):c.463+2T>G rs5030814
NM_000551.4(VHL):c.463+3A>C rs1131690954
NM_000551.4(VHL):c.463+3A>G rs1131690954
NM_000551.4(VHL):c.463G>C (p.Val155Leu) rs869025659
NM_000551.4(VHL):c.463G>T (p.Val155Leu) rs869025659
NM_000551.4(VHL):c.464T>G (p.Val155Gly)
NM_000551.4(VHL):c.471dup (p.Leu158fs) rs869025661
NM_000551.4(VHL):c.473T>A (p.Leu158Gln) rs121913346
NM_000551.4(VHL):c.475A>G (p.Lys159Glu) rs1575932011
NM_000551.4(VHL):c.479A>T (p.Glu160Val) rs864321641
NM_000551.4(VHL):c.481C>T (p.Arg161Ter) rs5030818
NM_000551.4(VHL):c.483_500dup (p.Cys162_Arg167dup) rs1553620312
NM_000551.4(VHL):c.483del (p.Cys162fs) rs1696355438
NM_000551.4(VHL):c.484del (p.Cys162fs) rs1696355550
NM_000551.4(VHL):c.485G>A (p.Cys162Tyr) rs397516444
NM_000551.4(VHL):c.486C>A (p.Cys162Ter) rs5030622
NM_000551.4(VHL):c.487C>A (p.Leu163Ile)
NM_000551.4(VHL):c.487C>T (p.Leu163Phe) rs1553620318
NM_000551.4(VHL):c.488T>C (p.Leu163Pro) rs28940297
NM_000551.4(VHL):c.490C>T (p.Gln164Ter) rs5030819
NM_000551.4(VHL):c.492G>T (p.Gln164His) rs1352275281
NM_000551.4(VHL):c.496_506del (p.Val166fs) rs869025663
NM_000551.4(VHL):c.497T>C (p.Val166Ala) rs397516445
NM_000551.4(VHL):c.500G>C (p.Arg167Pro) rs5030821
NM_000551.4(VHL):c.501_502insTTGTCCGT (p.Ser168fs) rs398123483
NM_000551.4(VHL):c.506T>C (p.Leu169Pro) rs1131690962
NM_000551.4(VHL):c.506del (p.Leu169fs)
NM_000551.4(VHL):c.508G>C (p.Val170Leu) rs1553620326
NM_000551.4(VHL):c.509T>A (p.Val170Asp) rs864321642
NM_000551.4(VHL):c.509T>C (p.Val170Ala) rs864321642
NM_000551.4(VHL):c.524A>G (p.Tyr175Cys) rs193922613
NM_000551.4(VHL):c.531_542delinsTC (p.Arg177fs) rs1553620331
NM_000551.4(VHL):c.547del (p.Ser183fs) rs1559429778
NM_000551.4(VHL):c.548C>G (p.Ser183Trp) rs5030823
NM_000551.4(VHL):c.551T>C (p.Leu184Pro) rs1064793878
NM_000551.4(VHL):c.555C>G (p.Tyr185Ter) rs864622109
NM_000551.4(VHL):c.556G>T (p.Glu186Ter) rs367545984
NM_000551.4(VHL):c.558_560del (p.Glu186del) rs1559429813
NM_000551.4(VHL):c.563T>A (p.Leu188Gln) rs1559429824
NM_000551.4(VHL):c.563T>C (p.Leu188Pro) rs1559429824
NM_000551.4(VHL):c.563T>G (p.Leu188Arg) rs1559429824
NM_000551.4(VHL):c.565del (p.Glu189fs) rs1559429829
NM_000551.4(VHL):c.571C>G (p.His191Asp) rs28940301
NM_000551.4(VHL):c.572A>C (p.His191Pro) rs370050374
NM_000551.4(VHL):c.574C>A (p.Pro192Thr) rs28940300
NM_000551.4(VHL):c.574C>T (p.Pro192Ser) rs28940300
NM_000551.4(VHL):c.575C>G (p.Pro192Arg) rs902694906
NM_000551.4(VHL):c.575C>T (p.Pro192Leu) rs902694906
NM_000551.4(VHL):c.581T>G (p.Val194Gly) rs1131690963
NM_000551.4(VHL):c.586A>G (p.Lys196Glu) rs281860296
NM_000551.4(VHL):c.587_590dup (p.Asp197fs) rs869025666
NM_000551.4(VHL):c.588del (p.Asp197fs)
NM_000551.4(VHL):c.588dup (p.Asp197fs) rs864321640
NM_000551.4(VHL):c.589G>A (p.Asp197Asn) rs1064794951
NM_000551.4(VHL):c.593T>A (p.Leu198Gln) rs869025667
NM_000551.4(VHL):c.593T>C (p.Leu198Pro) rs869025667
NM_000551.4(VHL):c.599G>T (p.Arg200Leu) rs754016774
NM_000551.4(VHL):c.602T>C (p.Leu201Pro) rs2125130793
NM_000551.4(VHL):c.607_608del (p.Gln203fs)
NM_000551.4(VHL):c.640T>A (p.Ter214Arg) rs1575932781
NM_000551.4(VHL):c.640T>C (p.Ter214Arg)
NM_000551.4(VHL):c.641G>T (p.Ter214Leu) rs869025668
NM_000551.4(VHL):c.642A>G (p.Ter214Trp) rs1559430011
NM_000551.4(VHL):c.642A>T (p.Ter214Cys) rs1559430011

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