ClinVar Miner

List of variants in gene LOC107303340, VHL studied for Von Hippel-Lindau syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 365
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HGVS dbSNP gnomAD frequency
NM_000551.4(VHL):c.*1860A>G rs458106 0.98202
NM_000551.4(VHL):c.*2975G>C rs801913 0.90200
NM_000551.4(VHL):c.*3644_*3645insG rs201632485 0.86506
NM_000551.4(VHL):c.*1023G>A rs1681669 0.60118
NM_000551.4(VHL):c.*294G>A rs1642742 0.57360
NM_000551.4(VHL):c.*1060C>T rs1681668 0.57297
NM_000551.4(VHL):c.*2548G>A rs187719061 0.12455
NM_000551.4(VHL):c.*2140C>T rs140614750 0.12149
NM_000551.4(VHL):c.*1973_*1979del rs149248243 0.12080
NM_000551.4(VHL):c.*2600T>A rs142728549 0.06248
NM_000551.4(VHL):c.*823G>A rs7629500 0.02732
NM_000551.4(VHL):c.*3523T>G rs17610448 0.02083
NM_000551.4(VHL):c.*724T>G rs13090104 0.01627
NM_000551.4(VHL):c.*3352G>A rs112130915 0.01140
NM_000551.4(VHL):c.*1990G>A rs113678809 0.01135
NM_000551.4(VHL):c.*1787G>A rs115303528 0.00645
NM_000551.4(VHL):c.*2201G>A rs145666034 0.00645
NM_000551.4(VHL):c.*1222A>G rs72563744 0.00642
NM_000551.4(VHL):c.*3453A>G rs140044688 0.00642
NM_000551.4(VHL):c.*1759A>G rs114732761 0.00641
NM_000551.4(VHL):c.*713T>C rs13090098 0.00641
NM_000551.4(VHL):c.*718T>C rs116182840 0.00641
NM_000551.4(VHL):c.*1328C>A rs78562649 0.00560
NM_000551.4(VHL):c.*1419A>G rs141916278 0.00551
NM_000551.4(VHL):c.*1960G>A rs9822696 0.00515
NM_000551.4(VHL):c.*1465C>A rs183067022 0.00497
NM_000551.4(VHL):c.*2562C>T rs747406421 0.00359
NM_000551.4(VHL):c.*3603C>T rs145137834 0.00352
NM_000551.4(VHL):c.*3021T>C rs138933035 0.00296
NM_000551.4(VHL):c.*2594C>A rs191582744 0.00216
NM_000551.4(VHL):c.*3395C>T rs184144719 0.00205
NM_000551.4(VHL):c.*574T>C rs143062510 0.00195
NM_000551.4(VHL):c.*820A>G rs182781943 0.00168
NM_000551.4(VHL):c.*1619T>C rs145608408 0.00154
NM_000551.4(VHL):c.*1947A>T rs546263769 0.00143
NM_000551.4(VHL):c.*2541_*2546del rs886057738 0.00142
NM_000551.4(VHL):c.*2468C>T rs138237298 0.00109
NM_000551.4(VHL):c.*3205C>T rs561918442 0.00090
NM_000551.4(VHL):c.*3389G>A rs368247150 0.00079
NM_000551.4(VHL):c.*1829G>A rs757233828 0.00068
NM_000551.4(VHL):c.340+578C>T rs139622356 0.00064
NM_000551.4(VHL):c.*2543_*2546del rs886057739 0.00063
NM_000551.4(VHL):c.463+8C>T rs5030834 0.00051
NM_000551.4(VHL):c.*3617G>A rs527601820 0.00043
NM_000551.4(VHL):c.*2854G>T rs546347626 0.00042
NM_000551.4(VHL):c.*1721C>G rs574191130 0.00037
NM_000551.4(VHL):c.*3625T>A rs552161251 0.00036
NM_000551.4(VHL):c.*1172C>T rs528852958 0.00031
NM_000551.4(VHL):c.*3374G>A rs144782223 0.00028
NM_000551.4(VHL):c.*579G>C rs761456338 0.00025
NM_000551.4(VHL):c.*1371A>G rs771759826 0.00024
NM_000551.4(VHL):c.*1249G>A rs886057716 0.00022
NM_000551.4(VHL):c.*391C>T rs138178021 0.00022
NM_000551.4(VHL):c.*1680T>C rs561087293 0.00019
NM_000551.4(VHL):c.341-6C>T rs191201783 0.00019
NM_000551.4(VHL):c.*2716G>A rs538719970 0.00018
NM_000551.4(VHL):c.*1513A>G rs538580892 0.00016
NM_000551.4(VHL):c.*392G>A rs886057708 0.00016
NM_000551.4(VHL):c.*2570C>T rs909427137 0.00015
NM_000551.4(VHL):c.*885T>G rs998479331 0.00015
NM_000551.4(VHL):c.*1207G>A rs139557214 0.00014
NM_000551.4(VHL):c.*1867A>G rs566885734 0.00014
NM_000551.4(VHL):c.*989C>T rs186084634 0.00014
NM_000551.4(VHL):c.629G>A (p.Arg210Gln) rs138780791 0.00013
NM_000551.4(VHL):c.*1691A>G rs539201437 0.00011
NM_000551.4(VHL):c.*385del rs886057707 0.00011
NM_000551.4(VHL):c.*70C>T rs552290225 0.00011
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) rs28940298 0.00010
NM_000551.4(VHL):c.*1351G>A rs905412506 0.00009
NM_000551.4(VHL):c.*1281A>G rs886057717 0.00008
NM_000551.4(VHL):c.*432C>G rs1230198427 0.00006
NM_000551.4(VHL):c.*635G>A rs886057712 0.00006
NM_000551.4(VHL):c.464-10G>A rs552930903 0.00006
NM_000551.4(VHL):c.*2464A>G rs1039347276 0.00005
NM_000551.4(VHL):c.552C>T (p.Leu184=) rs779157605 0.00005
NM_000551.4(VHL):c.*1677C>T rs886057723 0.00004
NM_000551.4(VHL):c.*1878T>C rs1454245545 0.00004
NM_000551.4(VHL):c.*2782C>G rs886057747 0.00004
NM_000551.4(VHL):c.*3307C>T rs1236502754 0.00004
NM_000551.4(VHL):c.*876G>A rs1037001327 0.00004
NM_000551.4(VHL):c.556G>A (p.Glu186Lys) rs367545984 0.00004
NM_000551.4(VHL):c.562C>G (p.Leu188Val) rs5030824 0.00004
NM_000551.4(VHL):c.631A>C (p.Met211Leu) rs200019083 0.00004
NM_000551.4(VHL):c.639T>C (p.Asp213=) rs775624944 0.00004
NM_000551.4(VHL):c.*2272C>T rs1035906615 0.00003
NM_000551.4(VHL):c.*2341T>C rs973162600 0.00003
NM_000551.4(VHL):c.*2571A>G rs886057741 0.00003
NM_000551.4(VHL):c.375C>T (p.His125=) rs863224372 0.00003
NM_000551.4(VHL):c.549G>A (p.Ser183=) rs193922614 0.00003
NM_000551.4(VHL):c.554A>G (p.Tyr185Cys) rs561874453 0.00003
NM_000551.4(VHL):c.628C>T (p.Arg210Trp) rs774380450 0.00003
NM_000551.4(VHL):c.*1452A>T rs552760935 0.00002
NM_000551.4(VHL):c.*280A>G rs886057705 0.00002
NM_000551.4(VHL):c.*303A>T rs573000980 0.00002
NM_000551.4(VHL):c.*3128G>A rs886057751 0.00002
NM_000551.4(VHL):c.*3222A>G rs886057752 0.00002
NM_000551.4(VHL):c.*327G>A rs1247645604 0.00002
NM_000551.4(VHL):c.*3616C>T rs750516726 0.00002
NM_000551.4(VHL):c.376G>A (p.Asp126Asn) rs104893831 0.00002
NM_000551.4(VHL):c.439A>G (p.Ile147Val) rs1057517560 0.00002
NM_000551.4(VHL):c.605C>T (p.Thr202Ile) rs779514074 0.00002
NM_000551.4(VHL):c.*1072C>T rs886057715 0.00001
NM_000551.4(VHL):c.*1852T>C rs1356745170 0.00001
NM_000551.4(VHL):c.*2224A>G rs886057734 0.00001
NM_000551.4(VHL):c.*2715C>T rs578053681 0.00001
NM_000551.4(VHL):c.*2904A>G rs1339328787 0.00001
NM_000551.4(VHL):c.*2919T>A rs1335170233 0.00001
NM_000551.4(VHL):c.*452G>A rs866994372 0.00001
NM_000551.4(VHL):c.*522G>C rs1696383500 0.00001
NM_000551.4(VHL):c.341-10G>C rs140064807 0.00001
NM_000551.4(VHL):c.341-25_370dup rs1553619923 0.00001
NM_000551.4(VHL):c.373C>T (p.His125Tyr) rs375401722 0.00001
NM_000551.4(VHL):c.416C>G (p.Ser139Cys) rs587780732 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.540C>T (p.Ile180=) rs374927292 0.00001
NM_000551.4(VHL):c.544A>G (p.Arg182Gly) rs778205243 0.00001
NM_000551.4(VHL):c.599G>A (p.Arg200Gln) rs754016774 0.00001
NC_000003.12:g.10139220_10148953del
NC_000003.12:g.10139708_10142406del
NC_000003.12:g.10139761_10142459del
NC_000003.12:g.10140648_10148414del
NC_000003.12:g.10140738_10142535del
NC_000003.12:g.10141523_10142610del
NC_000003.12:g.10148440_10158273del
NC_000003.12:g.10148566_10158401del
NC_000003.12:g.10148615_10158450del
NM_000551.3(VHL):c.(?_464)_642+?del
NM_000551.4(VHL):c.*1001T>C rs1696395449
NM_000551.4(VHL):c.*1087G>A rs889996347
NM_000551.4(VHL):c.*1114C>A rs1696399406
NM_000551.4(VHL):c.*1181G>C rs72563745
NM_000551.4(VHL):c.*1301G>A rs541963428
NM_000551.4(VHL):c.*1330A>G rs886057718
NM_000551.4(VHL):c.*1347C>A rs886057719
NM_000551.4(VHL):c.*1481G>A rs886057720
NM_000551.4(VHL):c.*1542C>A rs1266903436
NM_000551.4(VHL):c.*1617G>T rs886057721
NM_000551.4(VHL):c.*1643C>A rs886057722
NM_000551.4(VHL):c.*1689A>G rs1696413219
NM_000551.4(VHL):c.*1741G>T rs886057724
NM_000551.4(VHL):c.*1780C>G rs886057725
NM_000551.4(VHL):c.*1782T>G rs886057726
NM_000551.4(VHL):c.*1808A>G rs886057727
NM_000551.4(VHL):c.*1887C>A rs886057728
NM_000551.4(VHL):c.*1913T>C rs1696419066
NM_000551.4(VHL):c.*1922G>A rs886057729
NM_000551.4(VHL):c.*2034T>A rs1136249
NM_000551.4(VHL):c.*2034T>G rs1136249
NM_000551.4(VHL):c.*2090del rs886057730
NM_000551.4(VHL):c.*2093del rs886057731
NM_000551.4(VHL):c.*2094del rs886057732
NM_000551.4(VHL):c.*20C>A rs1696369145
NM_000551.4(VHL):c.*2117del rs757106274
NM_000551.4(VHL):c.*2118del rs886057733
NM_000551.4(VHL):c.*2419dup rs564788050
NM_000551.4(VHL):c.*2432T>G rs886057736
NM_000551.4(VHL):c.*2540_*2545del rs71052299
NM_000551.4(VHL):c.*2545del rs71052299
NM_000551.4(VHL):c.*2546GA[1] rs886057740
NM_000551.4(VHL):c.*2647C>A rs886057742
NM_000551.4(VHL):c.*2660T>A rs886057743
NM_000551.4(VHL):c.*266_*269del rs886057704
NM_000551.4(VHL):c.*2670G>C rs886057744
NM_000551.4(VHL):c.*2681C>T rs1696442933
NM_000551.4(VHL):c.*2738G>A rs886057745
NM_000551.4(VHL):c.*275C>T rs1696376132
NM_000551.4(VHL):c.*2762T>C rs886057746
NM_000551.4(VHL):c.*2812A>C rs886057748
NM_000551.4(VHL):c.*2893G>A rs777358147
NM_000551.4(VHL):c.*2937G>A rs922231519
NM_000551.4(VHL):c.*2960C>A rs886057749
NM_000551.4(VHL):c.*2988G>A rs886057750
NM_000551.4(VHL):c.*3040G>A rs923804041
NM_000551.4(VHL):c.*3097G>A rs149416955
NM_000551.4(VHL):c.*3249C>T rs886057753
NM_000551.4(VHL):c.*3261T>C rs886057754
NM_000551.4(VHL):c.*3323ACAAAAA[3] rs886057755
NM_000551.4(VHL):c.*3411C>T rs1696466386
NM_000551.4(VHL):c.*3470G>T rs886057756
NM_000551.4(VHL):c.*3482dup rs148013887
NM_000551.4(VHL):c.*3492_*3493dup rs112494627
NM_000551.4(VHL):c.*349G>T rs886057706
NM_000551.4(VHL):c.*3506G>T rs886057759
NM_000551.4(VHL):c.*3545C>A rs886057760
NM_000551.4(VHL):c.*3645_*3646insGT rs1553620861
NM_000551.4(VHL):c.*370A>G rs576059326
NM_000551.4(VHL):c.*448G>T rs886057709
NM_000551.4(VHL):c.*523del rs546118793
NM_000551.4(VHL):c.*572T>A rs1345623222
NM_000551.4(VHL):c.*597G>A rs886057711
NM_000551.4(VHL):c.*687C>A rs886057713
NM_000551.4(VHL):c.*7C>G rs778005138
NM_000551.4(VHL):c.*816G>C rs142396182
NM_000551.4(VHL):c.*923GTTTT[5] rs544983652
NM_000551.4(VHL):c.340+1019_463+450del
NM_000551.4(VHL):c.340+1543_464-1191del
NM_000551.4(VHL):c.340+1580_464-1477del
NM_000551.4(VHL):c.340+221_464-1411del
NM_000551.4(VHL):c.340+283_463+499del
NM_000551.4(VHL):c.340+307_464-1191del
NM_000551.4(VHL):c.340+365_464-909del
NM_000551.4(VHL):c.340+428_464-1203del
NM_000551.4(VHL):c.340+444_464-1187del
NM_000551.4(VHL):c.340+994_*2333del
NM_000551.4(VHL):c.341-1382_*3401del
NM_000551.4(VHL):c.341-1406_*3377del
NM_000551.4(VHL):c.341-1583_464-1477del
NM_000551.4(VHL):c.341-1857_464-1328del
NM_000551.4(VHL):c.341-1G>A rs1575927648
NM_000551.4(VHL):c.341-1G>T
NM_000551.4(VHL):c.341-21_341-17del rs869025639
NM_000551.4(VHL):c.341-279_464-614del
NM_000551.4(VHL):c.341-2A>G rs869025637
NM_000551.4(VHL):c.341-2A>T
NM_000551.4(VHL):c.341-3T>G rs1131690965
NM_000551.4(VHL):c.341-49_*2815del
NM_000551.4(VHL):c.341-5G>A rs372340900
NM_000551.4(VHL):c.341-929_*3191del
NM_000551.4(VHL):c.341-951_464-1018del
NM_000551.4(VHL):c.345C>A (p.His115Gln) rs864622646
NM_000551.4(VHL):c.345C>T (p.His115=) rs864622646
NM_000551.4(VHL):c.346dup (p.Leu116fs) rs1559428051
NM_000551.4(VHL):c.350G>A (p.Trp117Ter) rs1559428056
NM_000551.4(VHL):c.351G>T (p.Trp117Cys) rs727504215
NM_000551.4(VHL):c.351del (p.Trp117fs) rs869025640
NM_000551.4(VHL):c.352_353insA (p.Leu118fs) rs869025641
NM_000551.4(VHL):c.353T>G (p.Leu118Arg) rs5030830
NM_000551.4(VHL):c.355T>C (p.Phe119Leu) rs1553619948
NM_000551.4(VHL):c.357C>G (p.Phe119Leu) rs1559428077
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.363del (p.Asp121fs) rs2125128271
NM_000551.4(VHL):c.371C>T (p.Thr124Ile) rs193922610
NM_000551.4(VHL):c.374A>C (p.His125Pro) rs869025643
NM_000551.4(VHL):c.374_375del (p.His125fs) rs869025644
NM_000551.4(VHL):c.377del (p.Asp126fs) rs1553619952
NM_000551.4(VHL):c.381_382delinsTT (p.Leu128Phe) rs869025645
NM_000551.4(VHL):c.381del (p.Leu128fs) rs1559428107
NM_000551.4(VHL):c.383T>C (p.Leu128Pro) rs2125128327
NM_000551.4(VHL):c.386T>C (p.Leu129Pro) rs1559428119
NM_000551.4(VHL):c.388G>C (p.Val130Leu) rs104893830
NM_000551.4(VHL):c.388G>T (p.Val130Phe) rs104893830
NM_000551.4(VHL):c.392A>G (p.Asn131Ser) rs1553619963
NM_000551.4(VHL):c.393_394dup (p.Gln132fs) rs1559428128
NM_000551.4(VHL):c.394C>T (p.Gln132Ter) rs5030813
NM_000551.4(VHL):c.395A>C (p.Gln132Pro) rs1347416980
NM_000551.4(VHL):c.397del (p.Thr133fs) rs1559428134
NM_000551.4(VHL):c.402del (p.Glu134fs) rs869025646
NM_000551.4(VHL):c.405A>C (p.Leu135Phe) rs119103278
NM_000551.4(VHL):c.407T>C (p.Phe136Ser) rs5030833
NM_000551.4(VHL):c.407T>G (p.Phe136Cys) rs5030833
NM_000551.4(VHL):c.408del (p.Phe136fs) rs397516442
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.429C>G (p.Asp143Glu) rs773556807
NM_000551.4(VHL):c.430G>T (p.Gly144Ter) rs869025650
NM_000551.4(VHL):c.431del (p.Gly144fs) rs869025651
NM_000551.4(VHL):c.433C>T (p.Gln145Ter) rs749704215
NM_000551.4(VHL):c.433_439del (p.Gln145fs) rs1559428217
NM_000551.4(VHL):c.435_436del (p.Gln145fs) rs869025652
NM_000551.4(VHL):c.444del (p.Phe148fs) rs869025653
NM_000551.4(VHL):c.444dup (p.Ala149fs) rs869025653
NM_000551.4(VHL):c.445G>A (p.Ala149Thr) rs587780077
NM_000551.4(VHL):c.445G>C (p.Ala149Pro) rs587780077
NM_000551.4(VHL):c.445G>T (p.Ala149Ser) rs587780077
NM_000551.4(VHL):c.445dup (p.Ala149fs) rs1559428232
NM_000551.4(VHL):c.449A>G (p.Asn150Ser) rs760184234
NM_000551.4(VHL):c.449del (p.Asn150fs) rs794727253
NM_000551.4(VHL):c.451A>G (p.Ile151Val) rs876659313
NM_000551.4(VHL):c.452T>C (p.Ile151Thr) rs869025655
NM_000551.4(VHL):c.452T>G (p.Ile151Ser) rs869025655
NM_000551.4(VHL):c.454_463+17del rs869025656
NM_000551.4(VHL):c.458T>A (p.Leu153Gln) rs193922611
NM_000551.4(VHL):c.460C>T (p.Pro154Ser) rs1553619993
NM_000551.4(VHL):c.462del (p.Val155fs) rs1559428267
NM_000551.4(VHL):c.463+1008_*2803del
NM_000551.4(VHL):c.463+1G>C rs869025657
NM_000551.4(VHL):c.463+2T>G rs5030814
NM_000551.4(VHL):c.463+37_463+39del rs869025658
NM_000551.4(VHL):c.463+3A>G rs1131690954
NM_000551.4(VHL):c.463+439_*991del
NM_000551.4(VHL):c.463G>A (p.Val155Met) rs869025659
NM_000551.4(VHL):c.464-117del rs193922612
NM_000551.4(VHL):c.464-1226_*2771del
NM_000551.4(VHL):c.464-1G>A rs5030817
NM_000551.4(VHL):c.464-1G>C rs5030817
NM_000551.4(VHL):c.464-1G>T rs5030817
NM_000551.4(VHL):c.464-2A>G rs5030816
NM_000551.4(VHL):c.467A>G (p.Tyr156Cys) rs397516441
NM_000551.4(VHL):c.470C>T (p.Thr157Ile) rs869025660
NM_000551.4(VHL):c.471dup (p.Leu158fs) rs869025661
NM_000551.4(VHL):c.473T>C (p.Leu158Pro) rs121913346
NM_000551.4(VHL):c.474_476delinsC (p.Lys159fs) rs1553620305
NM_000551.4(VHL):c.475A>T (p.Lys159Ter) rs1575932011
NM_000551.4(VHL):c.477del (p.Glu160fs) rs730882020
NM_000551.4(VHL):c.477dup (p.Glu160fs) rs730882020
NM_000551.4(VHL):c.481C>T (p.Arg161Ter) rs5030818
NM_000551.4(VHL):c.482G>A (p.Arg161Gln) rs730882035
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.484T>C (p.Cys162Arg) rs1553620313
NM_000551.4(VHL):c.484del (p.Cys162fs) rs1696355550
NM_000551.4(VHL):c.485G>A (p.Cys162Tyr) rs397516444
NM_000551.4(VHL):c.485G>T (p.Cys162Phe) rs397516444
NM_000551.4(VHL):c.486C>A (p.Cys162Ter) rs5030622
NM_000551.4(VHL):c.486C>G (p.Cys162Trp) rs5030622
NM_000551.4(VHL):c.490C>G (p.Gln164Glu) rs5030819
NM_000551.4(VHL):c.490C>T (p.Gln164Ter) rs5030819
NM_000551.4(VHL):c.491A>G (p.Gln164Arg) rs267607170
NM_000551.4(VHL):c.492G>T (p.Gln164His) rs1352275281
NM_000551.4(VHL):c.496G>T (p.Val166Phe) rs104893825
NM_000551.4(VHL):c.496_506del (p.Val166fs) rs869025663
NM_000551.4(VHL):c.497T>A (p.Val166Asp) rs397516445
NM_000551.4(VHL):c.497T>C (p.Val166Ala) rs397516445
NM_000551.4(VHL):c.497T>G (p.Val166Gly) rs397516445
NM_000551.4(VHL):c.499C>G (p.Arg167Gly) rs5030820
NM_000551.4(VHL):c.500G>A (p.Arg167Gln) rs5030821
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.508G>C (p.Val170Leu) rs1553620326
NM_000551.4(VHL):c.509T>A (p.Val170Asp) rs864321642
NM_000551.4(VHL):c.524A>G (p.Tyr175Cys) rs193922613
NM_000551.4(VHL):c.525C>G (p.Tyr175Ter) rs5030835
NM_000551.4(VHL):c.526del (p.Arg176fs) rs1559429711
NM_000551.4(VHL):c.529A>T (p.Arg177Ter) rs1559429717
NM_000551.4(VHL):c.531_542delinsTC (p.Arg177fs) rs1553620331
NM_000551.4(VHL):c.533T>A (p.Leu178Gln) rs5030822
NM_000551.4(VHL):c.533T>C (p.Leu178Pro) rs5030822
NM_000551.4(VHL):c.533T>G (p.Leu178Arg) rs5030822
NM_000551.4(VHL):c.533_534del (p.Leu178fs) rs1559429736
NM_000551.4(VHL):c.539T>G (p.Ile180Ser) rs1559429750
NM_000551.4(VHL):c.540_543del (p.Val181fs) rs869025664
NM_000551.4(VHL):c.541G>A (p.Val181Ile) rs878854127
NM_000551.4(VHL):c.545G>A (p.Arg182Lys) rs749774529
NM_000551.4(VHL):c.546del (p.Arg182fs) rs869025665
NM_000551.4(VHL):c.547del (p.Ser183fs) rs1559429778
NM_000551.4(VHL):c.548C>A (p.Ser183Ter) 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.555_557del (p.Tyr185_Glu186delinsTer)
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.565del (p.Glu189fs) rs1559429829
NM_000551.4(VHL):c.572A>G (p.His191Arg) rs370050374
NM_000551.4(VHL):c.575C>T (p.Pro192Leu) rs902694906
NM_000551.4(VHL):c.575del (p.Pro192fs) rs2125130735
NM_000551.4(VHL):c.583C>T (p.Gln195Ter) rs5030825
NM_000551.4(VHL):c.585_586del (p.Lys196fs) rs1553620362
NM_000551.4(VHL):c.585_606dup (p.Gln203fs) rs1559429876
NM_000551.4(VHL):c.586A>T (p.Lys196Ter) rs281860296
NM_000551.4(VHL):c.587_590dup (p.Asp197fs) rs869025666
NM_000551.4(VHL):c.589G>A (p.Asp197Asn) rs1064794951
NM_000551.4(VHL):c.593T>C (p.Leu198Pro) rs869025667
NM_000551.4(VHL):c.597del (p.Glu199fs)
NM_000551.4(VHL):c.602T>C (p.Leu201Pro) rs2125130793
NM_000551.4(VHL):c.640T>A (p.Ter214Arg) rs1575932781
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
NM_000551.4(VHL):c.[340+617C>G;340+648T>C]
NM_198156.3(VHL):c.341-3273del rs869025638

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