ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 119
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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.(?_464)_642+?del
NM_000551.3(VHL):c.341-2A>G rs869025637
NM_000551.3(VHL):c.341delG rs869025638
NM_000551.3(VHL):c.345C>A (p.His115Gln) rs864622646
NM_000551.3(VHL):c.346dup (p.Leu116fs) rs1559428051
NM_000551.3(VHL):c.350G>A (p.Trp117Ter) rs1559428056
NM_000551.3(VHL):c.351G>T (p.Trp117Cys) rs727504215
NM_000551.3(VHL):c.351del (p.Trp117fs) rs869025640
NM_000551.3(VHL):c.352_353insA (p.Leu118fs) rs869025641
NM_000551.3(VHL):c.353T>C (p.Leu118Pro) rs5030830
NM_000551.3(VHL):c.353T>G (p.Leu118Arg) 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.358del (p.Arg120fs) rs1131690956
NM_000551.3(VHL):c.362A>G (p.Asp121Gly) rs5030832
NM_000551.3(VHL):c.370_371AC[2] (p.His125fs) rs869025644
NM_000551.3(VHL):c.374A>C (p.His125Pro) rs869025643
NM_000551.3(VHL):c.376G>A (p.Asp126Asn) rs104893831
NM_000551.3(VHL):c.376G>T (p.Asp126Tyr) rs104893831
NM_000551.3(VHL):c.377del (p.Asp126fs) rs1553619952
NM_000551.3(VHL):c.381del (p.Leu128fs) rs1559428107
NM_000551.3(VHL):c.388G>C (p.Val130Leu) rs104893830
NM_000551.3(VHL):c.388G>T (p.Val130Phe) rs104893830
NM_000551.3(VHL):c.388del (p.Val130fs) rs1553619957
NM_000551.3(VHL):c.393_394dup (p.Gln132fs) rs1559428128
NM_000551.3(VHL):c.394C>T (p.Gln132Ter) rs5030813
NM_000551.3(VHL):c.395A>C (p.Gln132Pro) rs1347416980
NM_000551.3(VHL):c.397del (p.Thr133fs) rs1559428134
NM_000551.3(VHL):c.402del (p.Glu134fs) rs869025646
NM_000551.3(VHL):c.405A>C (p.Leu135Phe) rs119103278
NM_000551.3(VHL):c.407T>C (p.Phe136Ser) rs5030833
NM_000551.3(VHL):c.407T>G (p.Phe136Cys) rs5030833
NM_000551.3(VHL):c.408del (p.Phe136fs) rs397516442
NM_000551.3(VHL):c.413del (p.Pro138fs) rs1559428164
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.418_419insA (p.Leu140fs) rs1131690955
NM_000551.3(VHL):c.422dup (p.Asn141fs) rs1553619976
NM_000551.3(VHL):c.430G>T (p.Gly144Ter) rs869025650
NM_000551.3(VHL):c.431del (p.Gly144fs) rs869025651
NM_000551.3(VHL):c.433C>T (p.Gln145Ter) rs749704215
NM_000551.3(VHL):c.433_439del (p.Gln145fs) rs1559428217
NM_000551.3(VHL):c.435_436del (p.Gln145fs) rs869025652
NM_000551.3(VHL):c.444del (p.Phe148fs) rs869025653
NM_000551.3(VHL):c.444dup (p.Ala149fs) rs869025653
NM_000551.3(VHL):c.445G>A (p.Ala149Thr) rs587780077
NM_000551.3(VHL):c.445G>T (p.Ala149Ser) rs587780077
NM_000551.3(VHL):c.445dup (p.Ala149fs) rs1559428232
NM_000551.3(VHL):c.449del (p.Asn150fs) rs794727253
NM_000551.3(VHL):c.452T>C (p.Ile151Thr) rs869025655
NM_000551.3(VHL):c.452T>G (p.Ile151Ser) rs869025655
NM_000551.3(VHL):c.454_463+17del rs869025656
NM_000551.3(VHL):c.461C>T (p.Pro154Leu)
NM_000551.3(VHL):c.462del (p.Val155fs) rs1559428267
NM_000551.3(VHL):c.463+1G>A rs869025657
NM_000551.3(VHL):c.463+1G>C rs869025657
NM_000551.3(VHL):c.463+2T>C
NM_000551.3(VHL):c.463+3A>G rs1131690954
NM_000551.3(VHL):c.464-1G>A rs5030817
NM_000551.3(VHL):c.464-1G>C rs5030817
NM_000551.3(VHL):c.464-1G>T rs5030817
NM_000551.3(VHL):c.464-2A>G rs5030816
NM_000551.3(VHL):c.464-?_*3705del
NM_000551.3(VHL):c.467A>G (p.Tyr156Cys) rs397516441
NM_000551.3(VHL):c.470C>T (p.Thr157Ile) rs869025660
NM_000551.3(VHL):c.472C>G (p.Leu158Val) rs1559429613
NM_000551.3(VHL):c.473T>C (p.Leu158Pro) rs121913346
NM_000551.3(VHL):c.474_476delinsC (p.Lys159fs) rs1553620305
NM_000551.3(VHL):c.477del (p.Glu160fs) rs730882020
NM_000551.3(VHL):c.477dup (p.Glu160fs) rs730882020
NM_000551.3(VHL):c.481C>G (p.Arg161Gly) rs5030818
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.482_486del (p.Arg161fs) rs1064794037
NM_000551.3(VHL):c.484T>C (p.Cys162Arg) rs1553620313
NM_000551.3(VHL):c.485G>A (p.Cys162Tyr) rs397516444
NM_000551.3(VHL):c.485G>T (p.Cys162Phe) rs397516444
NM_000551.3(VHL):c.486C>G (p.Cys162Trp) rs5030622
NM_000551.3(VHL):c.488T>C (p.Leu163Pro) rs28940297
NM_000551.3(VHL):c.490C>T (p.Gln164Ter) rs5030819
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.497T>A (p.Val166Asp) rs397516445
NM_000551.3(VHL):c.497T>C (p.Val166Ala) rs397516445
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.500G>A (p.Arg167Gln) rs5030821
NM_000551.3(VHL):c.500G>C (p.Arg167Pro) 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.509T>A (p.Val170Asp) rs864321642
NM_000551.3(VHL):c.524A>G (p.Tyr175Cys) rs193922613
NM_000551.3(VHL):c.525C>G (p.Tyr175Ter) rs5030835
NM_000551.3(VHL):c.526del (p.Arg176fs) rs1559429711
NM_000551.3(VHL):c.529A>T (p.Arg177Ter) rs1559429717
NM_000551.3(VHL):c.531_542delinsTC (p.Arg177fs) rs1553620331
NM_000551.3(VHL):c.533T>A (p.Leu178Gln) rs5030822
NM_000551.3(VHL):c.533T>C (p.Leu178Pro) rs5030822
NM_000551.3(VHL):c.533T>G (p.Leu178Arg) rs5030822
NM_000551.3(VHL):c.533_534del (p.Leu178fs) rs1559429736
NM_000551.3(VHL):c.540_543del (p.Val181fs) rs869025664
NM_000551.3(VHL):c.543dup (p.Arg182fs) rs1131690958
NM_000551.3(VHL):c.548C>A (p.Ser183Ter) rs5030823
NM_000551.3(VHL):c.551T>C (p.Leu184Pro) rs1064793878
NM_000551.3(VHL):c.555C>G (p.Tyr185Ter) rs864622109
NM_000551.3(VHL):c.562C>G (p.Leu188Val) rs5030824
NM_000551.3(VHL):c.571C>G (p.His191Asp) rs28940301
NM_000551.3(VHL):c.574C>T (p.Pro192Ser) rs28940300
NM_000551.3(VHL):c.583C>T (p.Gln195Ter) rs5030825
NM_000551.3(VHL):c.585_586del (p.Lys196fs) rs1553620362
NM_000551.3(VHL):c.586A>T (p.Lys196Ter) rs281860296
NM_000551.3(VHL):c.598C>T (p.Arg200Trp) rs28940298
NM_000551.3(VHL):c.612_613GC[1] (p.Arg205fs) rs730882030
Single allele

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