ClinVar Miner

List of variants in gene combination LOC107303340, VHL reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 289
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HGVS dbSNP
NC_000003.11:g.(?_10183526)_(10191655_?)dup
NC_000003.11:g.(?_10188188)_(10188330_?)dup
NC_000003.11:g.(?_10191461)_(10191659_?)dup
NC_000003.11:g.(?_10191471)_(10195354_?)dup
NC_000003.12:g.(?_10141635)_(10153670_?)del
NC_000003.12:g.(?_10141838)_(10149975_?)del
NC_000003.12:g.(?_10146504)_(10146646_?)del
NC_000003.12:g.(?_10146504)_(10149975_?)del
NC_000003.12:g.(?_10146508)_(10149971_?)del
NC_000003.12:g.(?_10146514)_(10146636_?)del
NC_000003.12:g.(?_10149777)_(10149975_?)del
NM_000551.3(VHL):c.341-10G>C rs140064807
NM_000551.3(VHL):c.341-25_370dup rs1553619923
NM_000551.3(VHL):c.341-2A>G rs869025637
NM_000551.3(VHL):c.341-4A>T rs1559428033
NM_000551.3(VHL):c.341-5G>A rs372340900
NM_000551.3(VHL):c.341-5G>T rs372340900
NM_000551.3(VHL):c.341-6C>G rs191201783
NM_000551.3(VHL):c.341-6C>T rs191201783
NM_000551.3(VHL):c.341-8C>G rs1272767361
NM_000551.3(VHL):c.344A>G (p.His115Arg) rs5030812
NM_000551.3(VHL):c.345C>A (p.His115Gln) rs864622646
NM_000551.3(VHL):c.345C>T (p.His115=) rs864622646
NM_000551.3(VHL):c.347T>G (p.Leu116Arg) rs879254230
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.355T>C (p.Phe119Leu) rs1553619948
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.364G>T (p.Ala122Ser) rs1064793291
NM_000551.3(VHL):c.366A>G (p.Ala122=) rs1474241640
NM_000551.3(VHL):c.370A>G (p.Thr124Ala) rs1559428091
NM_000551.3(VHL):c.373C>T (p.His125Tyr) rs375401722
NM_000551.3(VHL):c.375C>T (p.His125=) rs863224372
NM_000551.3(VHL):c.376G>C (p.Asp126His) rs104893831
NM_000551.3(VHL):c.376G>T (p.Asp126Tyr) rs104893831
NM_000551.3(VHL):c.377A>G (p.Asp126Gly) rs1354593943
NM_000551.3(VHL):c.379_380insCAG (p.Gly127_Leu128insAla) rs1559428103
NM_000551.3(VHL):c.382C>T (p.Leu128Phe) rs1553619956
NM_000551.3(VHL):c.385C>G (p.Leu129Val) rs369018004
NM_000551.3(VHL):c.385C>T (p.Leu129=) rs369018004
NM_000551.3(VHL):c.387G>T (p.Leu129=) rs778846471
NM_000551.3(VHL):c.388G>C (p.Val130Leu) rs104893830
NM_000551.3(VHL):c.398C>T (p.Thr133Ile) rs1060503565
NM_000551.3(VHL):c.402A>G (p.Glu134=) rs201482330
NM_000551.3(VHL):c.408T>G (p.Phe136Leu) rs878854125
NM_000551.3(VHL):c.411G>C (p.Val137=) rs1553619969
NM_000551.3(VHL):c.416C>G (p.Ser139Cys) rs587780732
NM_000551.3(VHL):c.416C>T (p.Ser139Phe) rs587780732
NM_000551.3(VHL):c.418C>T (p.Leu140Phe) rs768637170
NM_000551.3(VHL):c.420C>A (p.Leu140=) rs369465430
NM_000551.3(VHL):c.422A>G (p.Asn141Ser) rs1064796570
NM_000551.3(VHL):c.425T>C (p.Val142Ala) rs1553619979
NM_000551.3(VHL):c.427G>C (p.Asp143His) rs372757722
NM_000551.3(VHL):c.429C>T (p.Asp143=) rs773556807
NM_000551.3(VHL):c.430G>A (p.Gly144Arg) rs869025650
NM_000551.3(VHL):c.430G>C (p.Gly144Arg) rs869025650
NM_000551.3(VHL):c.430G>T (p.Gly144Ter) rs869025650
NM_000551.3(VHL):c.434A>T (p.Gln145Leu) rs864622313
NM_000551.3(VHL):c.435G>C (p.Gln145His) rs771727849
NM_000551.3(VHL):c.437C>T (p.Pro146Leu) rs1575928079
NM_000551.3(VHL):c.440T>C (p.Ile147Thr) rs1060503555
NM_000551.3(VHL):c.449A>G (p.Asn150Ser) rs760184234
NM_000551.3(VHL):c.452T>C (p.Ile151Thr) rs869025655
NM_000551.3(VHL):c.460C>G (p.Pro154Ala) rs1553619993
NM_000551.3(VHL):c.460C>T (p.Pro154Ser) rs1553619993
NM_000551.3(VHL):c.461C>G (p.Pro154Arg) rs1399097617
NM_000551.3(VHL):c.461C>T (p.Pro154Leu) rs1399097617
NM_000551.3(VHL):c.462A>G (p.Pro154=) rs1060503562
NM_000551.3(VHL):c.463+1G>A rs869025657
NM_000551.3(VHL):c.463+2T>C rs5030814
NM_000551.3(VHL):c.463+4C>T rs879253989
NM_000551.3(VHL):c.463+9G>A rs1057522720
NM_000551.3(VHL):c.464-10G>A rs552930903
NM_000551.3(VHL):c.464-2A>G rs5030816
NM_000551.3(VHL):c.464-3C>T rs904414377
NM_000551.3(VHL):c.464-?_*3705del
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.482G>A (p.Arg161Gln) rs730882035
NM_000551.3(VHL):c.484T>C (p.Cys162Arg) rs1553620313
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.487C>T (p.Leu163Phe) rs1553620318
NM_000551.3(VHL):c.488T>C (p.Leu163Pro) rs28940297
NM_000551.3(VHL):c.488T>G (p.Leu163Arg) 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.492G>T (p.Gln164His) rs1352275281
NM_000551.3(VHL):c.493G>T (p.Val165Phe) rs1575932103
NM_000551.3(VHL):c.494T>G (p.Val165Gly) rs1575932110
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>T (p.Arg167Leu) rs5030821
NM_000551.3(VHL):c.501_502insTTGTCCGT (p.Ser168fs) rs398123483
NM_000551.3(VHL):c.504C>T (p.Ser168=) rs1553620323
NM_000551.3(VHL):c.507A>C (p.Leu169=) rs878854126
NM_000551.3(VHL):c.508G>A (p.Val170Ile) rs1553620326
NM_000551.3(VHL):c.513G>T (p.Lys171Asn) rs1365445365
NM_000551.3(VHL):c.520A>T (p.Asn174Tyr) rs1060503566
NM_000551.3(VHL):c.521A>G (p.Asn174Ser) rs1575932235
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.526A>G (p.Arg176Gly) rs1575932259
NM_000551.3(VHL):c.532C>G (p.Leu178Val) rs755146587
NM_000551.3(VHL):c.533T>C (p.Leu178Pro) rs5030822
NM_000551.3(VHL):c.535G>A (p.Asp179Asn) rs767780451
NM_000551.3(VHL):c.538A>G (p.Ile180Val) rs377715747
NM_000551.3(VHL):c.540C>T (p.Ile180=) rs374927292
NM_000551.3(VHL):c.541G>A (p.Val181Ile) rs878854127
NM_000551.3(VHL):c.542T>C (p.Val181Ala) rs1553620340
NM_000551.3(VHL):c.544A>G (p.Arg182Gly) rs778205243
NM_000551.3(VHL):c.545G>A (p.Arg182Lys) rs749774529
NM_000551.3(VHL):c.548C>A (p.Ser183Ter) rs5030823
NM_000551.3(VHL):c.549G>A (p.Ser183=) rs193922614
NM_000551.3(VHL):c.549G>T (p.Ser183=) rs193922614
NM_000551.3(VHL):c.552C>T (p.Leu184=) rs779157605
NM_000551.3(VHL):c.553T>C (p.Tyr185His) rs768390987
NM_000551.3(VHL):c.554A>G (p.Tyr185Cys) rs561874453
NM_000551.3(VHL):c.555C>T (p.Tyr185=) rs864622109
NM_000551.3(VHL):c.556G>A (p.Glu186Lys) rs367545984
NM_000551.3(VHL):c.558A>C (p.Glu186Asp) rs587778744
NM_000551.3(VHL):c.561T>C (p.Asp187=) rs370769257
NM_000551.3(VHL):c.571C>G (p.His191Asp) rs28940301
NM_000551.3(VHL):c.572A>C (p.His191Pro) rs370050374
NM_000551.3(VHL):c.572A>G (p.His191Arg) rs370050374
NM_000551.3(VHL):c.574C>T (p.Pro192Ser) rs28940300
NM_000551.3(VHL):c.575C>T (p.Pro192Leu) rs902694906
NM_000551.3(VHL):c.578A>G (p.Asn193Ser) rs879254225
NM_000551.3(VHL):c.579T>A (p.Asn193Lys) rs1060503558
NM_000551.3(VHL):c.579T>C (p.Asn193=) rs1060503558
NM_000551.3(VHL):c.581T>G (p.Val194Gly) rs1131690963
NM_000551.3(VHL):c.585G>C (p.Gln195His) rs878854128
NM_000551.3(VHL):c.586A>G (p.Lys196Glu) rs281860296
NM_000551.3(VHL):c.590A>C (p.Asp197Ala) rs752940316
NM_000551.3(VHL):c.596A>C (p.Glu199Ala) rs760690217
NM_000551.3(VHL):c.599G>A (p.Arg200Gln) rs754016774
NM_000551.3(VHL):c.605C>T (p.Thr202Ile) rs779514074
NM_000551.3(VHL):c.610G>C (p.Glu204Gln) rs758853661
NM_000551.3(VHL):c.610G>T (p.Glu204Ter) rs758853661
NM_000551.3(VHL):c.612G>A (p.Glu204=) rs747805018
NM_000551.3(VHL):c.613C>G (p.Arg205Gly) rs199926195
NM_000551.3(VHL):c.613C>T (p.Arg205Cys) rs199926195
NM_000551.3(VHL):c.614G>A (p.Arg205His) rs777130107
NM_000551.3(VHL):c.614G>T (p.Arg205Leu) rs777130107
NM_000551.3(VHL):c.620C>T (p.Ala207Val) rs1060503549
NM_000551.3(VHL):c.625C>G (p.Gln209Glu) rs1559429968
NM_000551.3(VHL):c.628C>T (p.Arg210Trp) rs774380450
NM_000551.3(VHL):c.629G>A (p.Arg210Gln) rs138780791
NM_000551.3(VHL):c.631A>C (p.Met211Leu) rs200019083
NM_000551.3(VHL):c.632T>C (p.Met211Thr) rs1366708242
NM_000551.3(VHL):c.634G>T (p.Gly212Ter) rs1553620389
NM_000551.3(VHL):c.638A>G (p.Asp213Gly) rs1553620394
NM_000551.3(VHL):c.639T>C (p.Asp213=) rs775624944
NM_000551.4(VHL):c.340+577C>G
NM_000551.4(VHL):c.340+578C>T
NM_000551.4(VHL):c.340+590G>C
NM_000551.4(VHL):c.340+592G>A
NM_000551.4(VHL):c.340+595C>A
NM_000551.4(VHL):c.340+595C>T
NM_000551.4(VHL):c.340+601C>G
NM_000551.4(VHL):c.340+604C>T
NM_000551.4(VHL):c.340+608del
NM_000551.4(VHL):c.340+616C>T
NM_000551.4(VHL):c.340+627A>C
NM_000551.4(VHL):c.340+631A>T
NM_000551.4(VHL):c.340+634C>T
NM_000551.4(VHL):c.340+637C>A
NM_000551.4(VHL):c.340+646A>G
NM_000551.4(VHL):c.340+646A>T
NM_000551.4(VHL):c.340+652A>C
NM_000551.4(VHL):c.340+653_340+654del
NM_000551.4(VHL):c.340+672G>T
NM_000551.4(VHL):c.340+681A>T
NM_000551.4(VHL):c.340+682T>C
NM_000551.4(VHL):c.340+688C>T
NM_000551.4(VHL):c.340+691C>G
NM_000551.4(VHL):c.340+694_340+711dup rs1575923363
NM_000551.4(VHL):c.340+696G>T
NM_000551.4(VHL):c.340+701G>A
NM_000551.4(VHL):c.340+704C>T
NM_000551.4(VHL):c.340+705G>A
NM_000551.4(VHL):c.340+705G>C
NM_000551.4(VHL):c.340+706T>G
NM_000551.4(VHL):c.340+709G>T
NM_000551.4(VHL):c.340+713C>T
NM_000551.4(VHL):c.340+714G>C
NM_000551.4(VHL):c.340+724G>C
NM_000551.4(VHL):c.340+727T>G
NM_000551.4(VHL):c.340+728dup
NM_000551.4(VHL):c.340+730C>A
NM_000551.4(VHL):c.340+730C>G
NM_000551.4(VHL):c.340+730C>T
NM_000551.4(VHL):c.340+732T>G
NM_000551.4(VHL):c.340+737G>C
NM_000551.4(VHL):c.340+738C>T
NM_000551.4(VHL):c.340+742G>T
NM_000551.4(VHL):c.340+751G>T
NM_000551.4(VHL):c.340+752G>A
NM_000551.4(VHL):c.340+756G>C
NM_000551.4(VHL):c.340+760T>C
NM_000551.4(VHL):c.340+770T>A
NM_000551.4(VHL):c.340+770T>C rs1346312258
NM_000551.4(VHL):c.340+784C>T
NM_000551.4(VHL):c.340+788C>G
NM_000551.4(VHL):c.340+789C>T
NM_000551.4(VHL):c.340+790G>A
NM_000551.4(VHL):c.340+791G>A
NM_000551.4(VHL):c.340+797G>T
NM_000551.4(VHL):c.340+800G>A
NM_000551.4(VHL):c.340+806A>T
NM_000551.4(VHL):c.340+808G>A
NM_000551.4(VHL):c.340+809A>G
NM_000551.4(VHL):c.340+811G>C
NM_000551.4(VHL):c.340+812G>C
NM_000551.4(VHL):c.340+814G>T
NM_000551.4(VHL):c.340+816A>C
NM_000551.4(VHL):c.340+818G>A
NM_000551.4(VHL):c.340+819A>G
NM_000551.4(VHL):c.340+821C>G
NM_000551.4(VHL):c.340+825C>G
NM_000551.4(VHL):c.340+828A>G
NM_000551.4(VHL):c.340+829C>T
NM_000551.4(VHL):c.340+830C>T
NM_000551.4(VHL):c.340+831C>T
NM_000551.4(VHL):c.341-1_342dup
NM_000551.4(VHL):c.349T>G (p.Trp117Gly)
NM_000551.4(VHL):c.362A>T (p.Asp121Val)
NM_000551.4(VHL):c.363dup (p.Ala122fs) rs1575927767
NM_000551.4(VHL):c.365C>G (p.Ala122Gly)
NM_000551.4(VHL):c.366A>C (p.Ala122=) rs1474241640
NM_000551.4(VHL):c.376G>A (p.Asp126Asn) rs104893831
NM_000551.4(VHL):c.376_382delinsAA (p.Asp126fs)
NM_000551.4(VHL):c.377_379dup (p.Asp126dup)
NM_000551.4(VHL):c.387G>C (p.Leu129=) rs778846471
NM_000551.4(VHL):c.413C>T (p.Pro138Leu) rs780178275
NM_000551.4(VHL):c.414A>G (p.Pro138=) rs869025648
NM_000551.4(VHL):c.420C>T (p.Leu140=) rs369465430
NM_000551.4(VHL):c.421A>C (p.Asn141His)
NM_000551.4(VHL):c.421A>G (p.Asn141Asp)
NM_000551.4(VHL):c.432A>G (p.Gly144=) rs1575928044
NM_000551.4(VHL):c.433C>A (p.Gln145Lys)
NM_000551.4(VHL):c.439A>G (p.Ile147Val) rs1057517560
NM_000551.4(VHL):c.448_449del (p.Asn150fs)
NM_000551.4(VHL):c.451A>G (p.Ile151Val)
NM_000551.4(VHL):c.463+5T>G
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.471T>C (p.Thr157=) rs1252473811
NM_000551.4(VHL):c.474G>T (p.Leu158=) rs1575932005
NM_000551.4(VHL):c.477A>G (p.Lys159=)
NM_000551.4(VHL):c.478G>C (p.Glu160Gln)
NM_000551.4(VHL):c.481C>T (p.Arg161Ter) rs5030818
NM_000551.4(VHL):c.489C>G (p.Leu163=) rs1575932067
NM_000551.4(VHL):c.500G>A (p.Arg167Gln) rs5030821
NM_000551.4(VHL):c.505dup (p.Leu169fs)
NM_000551.4(VHL):c.516T>G (p.Pro172=) rs1575932227
NM_000551.4(VHL):c.525C>T (p.Tyr175=) rs5030835
NM_000551.4(VHL):c.531A>G (p.Arg177=) rs766088261
NM_000551.4(VHL):c.545G>C (p.Arg182Thr)
NM_000551.4(VHL):c.548C>T (p.Ser183Leu) rs5030823
NM_000551.4(VHL):c.562C>G (p.Leu188Val) rs5030824
NM_000551.4(VHL):c.563T>G (p.Leu188Arg)
NM_000551.4(VHL):c.576A>C (p.Pro192=) rs1372952726
NM_000551.4(VHL):c.591C>T (p.Asp197=) rs1575932584
NM_000551.4(VHL):c.594G>C (p.Leu198=) rs1575932599
NM_000551.4(VHL):c.595G>A (p.Glu199Lys)
NM_000551.4(VHL):c.596A>G (p.Glu199Gly)
NM_000551.4(VHL):c.596A>T (p.Glu199Val)
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) rs28940298
NM_000551.4(VHL):c.599G>T (p.Arg200Leu)
NM_000551.4(VHL):c.606A>C (p.Thr202=) rs1575932637
NM_000551.4(VHL):c.606A>G (p.Thr202=) rs1575932637
NM_000551.4(VHL):c.606dup (p.Gln203fs)
NM_000551.4(VHL):c.622C>T (p.His208Tyr)
NM_000551.4(VHL):c.630G>A (p.Arg210=) rs1575932755
NM_000551.4(VHL):c.634G>A (p.Gly212Arg)
NM_001354723.2(VHL):c.*122_*124dup rs1559429840
NM_001354723.2(VHL):c.*171_*172delinsAG rs1060503567
NM_001354723.2(VHL):c.*31del rs730882020
NM_001354723.2(VHL):c.*94_*97del rs869025664
NM_198156.3(VHL):c.341-3165del rs794727253
NM_198156.3(VHL):c.341-3179_341-3178del rs869025652
NM_198156.3(VHL):c.341-3192dup rs1553619976
NM_198156.3(VHL):c.341-3199TC[2] rs869025649
NM_198156.3(VHL):c.341-3237del rs1553619952
NM_198156.3(VHL):c.341-3244AC[2] rs869025644

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