ClinVar Miner

List of variants in gene combination LOC107303340, VHL reported by Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia

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Gene type:
ClinVar version:
Total variants: 110
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HGVS dbSNP
NM_000551.3(VHL):c.341-21_341-17del rs869025639
NM_000551.3(VHL):c.341-25_370dup rs1553619923
NM_000551.3(VHL):c.341-2A>G rs869025637
NM_000551.3(VHL):c.341-3T>G rs1131690965
NM_000551.3(VHL):c.341delG rs869025638
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.352_353insA (p.Leu118fs) rs869025641
NM_000551.3(VHL):c.357C>G (p.Phe119Leu) rs1559428077
NM_000551.3(VHL):c.358A>G (p.Arg120Gly) rs869025642
NM_000551.3(VHL):c.362A>G (p.Asp121Gly) rs5030832
NM_000551.3(VHL):c.374A>C (p.His125Pro) rs869025643
NM_000551.3(VHL):c.386T>C (p.Leu129Pro) rs1559428119
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.394C>T (p.Gln132Ter) rs5030813
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.429C>G (p.Asp143Glu) rs773556807
NM_000551.3(VHL):c.430G>T (p.Gly144Ter) rs869025650
NM_000551.3(VHL):c.433C>T (p.Gln145Ter) rs749704215
NM_000551.3(VHL):c.445G>A (p.Ala149Thr) rs587780077
NM_000551.3(VHL):c.445G>C (p.Ala149Pro) rs587780077
NM_000551.3(VHL):c.445G>T (p.Ala149Ser) rs587780077
NM_000551.3(VHL):c.449A>G (p.Asn150Ser) rs760184234
NM_000551.3(VHL):c.452T>G (p.Ile151Ser) rs869025655
NM_000551.3(VHL):c.454_463+17del rs869025656
NM_000551.3(VHL):c.463+1G>C rs869025657
NM_000551.3(VHL):c.463+37_463+39del rs869025658
NM_000551.3(VHL):c.463G>A (p.Val155Met) rs869025659
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.470C>T (p.Thr157Ile) rs869025660
NM_000551.3(VHL):c.473T>C (p.Leu158Pro) rs121913346
NM_000551.3(VHL):c.482G>A (p.Arg161Gln) rs730882035
NM_000551.3(VHL):c.483_500dup (p.Cys162_Arg167dup) rs1553620312
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.486C>A (p.Cys162Ter) rs5030622
NM_000551.3(VHL):c.486C>G (p.Cys162Trp) rs5030622
NM_000551.3(VHL):c.490C>G (p.Gln164Glu) rs5030819
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.497T>A (p.Val166Asp) rs397516445
NM_000551.3(VHL):c.497T>G (p.Val166Gly) 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>C (p.Arg167Pro) rs5030821
NM_000551.3(VHL):c.509T>A (p.Val170Asp) rs864321642
NM_000551.3(VHL):c.529A>T (p.Arg177Ter) rs1559429717
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.539T>G (p.Ile180Ser) rs1559429750
NM_000551.3(VHL):c.548C>A (p.Ser183Ter) rs5030823
NM_000551.3(VHL):c.554A>G (p.Tyr185Cys) rs561874453
NM_000551.3(VHL):c.555C>G (p.Tyr185Ter) rs864622109
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.575C>T (p.Pro192Leu) rs902694906
NM_000551.3(VHL):c.585_606dup (p.Gln203fs) rs1559429876
NM_000551.3(VHL):c.586A>T (p.Lys196Ter) rs281860296
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_000551.4(VHL):c.346dup (p.Leu116fs) rs1559428051
NM_000551.4(VHL):c.374_375del (p.His125fs) rs869025644
NM_000551.4(VHL):c.376G>A (p.Asp126Asn) rs104893831
NM_000551.4(VHL):c.381del (p.Leu128fs) rs1559428107
NM_000551.4(VHL):c.397del (p.Thr133fs) rs1559428134
NM_000551.4(VHL):c.413del (p.Pro138fs) rs1559428164
NM_000551.4(VHL):c.414A>G (p.Pro138=) rs869025648
NM_000551.4(VHL):c.419_420del (p.Leu140fs) rs869025649
NM_000551.4(VHL):c.419_427delinsACAATTATTTGTGCCATCTCTCAA (p.Leu140_Asp143delinsHisAsnTyrLeuCysHisLeuSerAsn) rs1559428180
NM_000551.4(VHL):c.433_439del (p.Gln145fs) rs1559428217
NM_000551.4(VHL):c.445dup (p.Ala149fs) rs1559428232
NM_000551.4(VHL):c.449del rs794727253
NM_000551.4(VHL):c.462del (p.Val155fs) rs1559428267
NM_000551.4(VHL):c.463+8C>T rs5030834
NM_000551.4(VHL):c.464-1G>A rs5030817
NM_000551.4(VHL):c.467A>G (p.Tyr156Cys) rs397516441
NM_000551.4(VHL):c.477dup (p.Glu160fs) rs730882020
NM_000551.4(VHL):c.481C>T (p.Arg161Ter) rs5030818
NM_000551.4(VHL):c.485G>T (p.Cys162Phe) rs397516444
NM_000551.4(VHL):c.497T>C (p.Val166Ala) rs397516445
NM_000551.4(VHL):c.500G>A (p.Arg167Gln) rs5030821
NM_000551.4(VHL):c.501_502insTTGTCCGT rs398123483
NM_000551.4(VHL):c.526del (p.Arg176fs) rs1559429711
NM_000551.4(VHL):c.533_534del (p.Leu178fs) rs1559429736
NM_000551.4(VHL):c.547del (p.Ser183fs) rs1559429778
NM_000551.4(VHL):c.558_560del (p.Glu186del) rs1559429813
NM_000551.4(VHL):c.562C>G (p.Leu188Val) rs5030824
NM_000551.4(VHL):c.565del (p.Glu189fs) rs1559429829
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) rs28940298
NM_001354723.2(VHL):c.*100del rs869025665
NM_001354723.2(VHL):c.*141_*144dup rs869025666
NM_001354723.2(VHL):c.*25dup rs869025661
NM_001354723.2(VHL):c.*31del rs730882020
NM_001354723.2(VHL):c.*50_*60del rs869025663
NM_001354723.2(VHL):c.*94_*97del rs869025664
NM_198156.3(VHL):c.341-3170del rs869025653
NM_198156.3(VHL):c.341-3170dup rs869025653
NM_198156.3(VHL):c.341-3179_341-3178del rs869025652
NM_198156.3(VHL):c.341-3183del rs869025651
NM_198156.3(VHL):c.341-3212del rs869025646
NM_198156.3(VHL):c.341-3221_341-3220dup rs1559428128
NM_198156.3(VHL):c.341-3233_341-3232delinsTT rs869025645
NM_198156.3(VHL):c.341-3263del rs869025640

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