ClinVar Miner

List of variants in gene combination LOC107303340, VHL reported as uncertain significance for Von Hippel-Lindau syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 181
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000551.4(VHL):c.*2562C>T rs747406421 0.00430
NM_000551.4(VHL):c.*2541_*2546del rs886057738 0.00142
NM_000551.4(VHL):c.*3205C>T rs561918442 0.00085
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.*2543_*2546del rs886057739 0.00063
NM_000551.4(VHL):c.463+8C>T rs5030834 0.00050
NM_000551.4(VHL):c.*2854G>T rs546347626 0.00038
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.*1371A>G rs771759826 0.00024
NM_000551.4(VHL):c.*579G>C rs761456338 0.00024
NM_000551.4(VHL):c.*1249G>A rs886057716 0.00022
NM_000551.4(VHL):c.*635G>A rs886057712 0.00019
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.*989C>T rs186084634 0.00015
NM_000551.4(VHL):c.*1207G>A rs139557214 0.00014
NM_000551.4(VHL):c.629G>A (p.Arg210Gln) rs138780791 0.00013
NM_000551.4(VHL):c.*385del rs886057707 0.00012
NM_000551.4(VHL):c.*1691A>G rs539201437 0.00011
NM_000551.4(VHL):c.*1351G>A rs905412506 0.00009
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) rs28940298 0.00009
NM_000551.4(VHL):c.*1281A>G rs886057717 0.00007
NM_000551.4(VHL):c.*432C>G rs1230198427 0.00006
NM_000551.4(VHL):c.*2464A>G rs1039347276 0.00005
NM_000551.4(VHL):c.*816G>C rs142396182 0.00005
NM_000551.4(VHL):c.*876G>A rs1037001327 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.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.427G>C (p.Asp143His) rs372757722 0.00003
NM_000551.4(VHL):c.554A>G (p.Tyr185Cys) rs561874453 0.00003
NM_000551.4(VHL):c.605C>T (p.Thr202Ile) rs779514074 0.00003
NM_000551.4(VHL):c.*1330A>G rs886057718 0.00002
NM_000551.4(VHL):c.*1780C>G rs886057725 0.00002
NM_000551.4(VHL):c.*280A>G rs886057705 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.*370A>G rs576059326 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.628C>T (p.Arg210Trp) rs774380450 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.*2904A>G rs1339328787 0.00001
NM_000551.4(VHL):c.*2919T>A rs1335170233 0.00001
NM_000551.4(VHL):c.*2937G>A rs922231519 0.00001
NM_000551.4(VHL):c.*3249C>T rs886057753 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.341-25_370dup rs1553619923 0.00001
NM_000551.4(VHL):c.373C>T (p.His125Tyr) rs375401722 0.00001
NM_000551.4(VHL):c.413C>T (p.Pro138Leu) rs780178275 0.00001
NM_000551.4(VHL):c.416C>G (p.Ser139Cys) rs587780732 0.00001
NM_000551.4(VHL):c.429C>T (p.Asp143=) rs773556807 0.00001
NM_000551.4(VHL):c.440T>C (p.Ile147Thr) rs1060503555 0.00001
NM_000551.4(VHL):c.520A>T (p.Asn174Tyr) rs1060503566 0.00001
NM_000551.4(VHL):c.538A>G (p.Ile180Val) rs377715747 0.00001
NM_000551.4(VHL):c.544A>G (p.Arg182Gly) rs778205243 0.00001
NM_000551.4(VHL):c.548C>T (p.Ser183Leu) rs5030823 0.00001
NM_000551.4(VHL):c.578A>G (p.Asn193Ser) rs879254225 0.00001
NM_000551.4(VHL):c.596A>C (p.Glu199Ala) rs760690217 0.00001
NM_000551.4(VHL):c.608A>G (p.Gln203Arg) rs1270568049 0.00001
NM_000551.4(VHL):c.620C>T (p.Ala207Val) rs1060503549 0.00001
NM_000551.4(VHL):c.634G>T (p.Gly212Ter) rs1553620389 0.00001
NM_000551.4(VHL):c.637G>C (p.Asp213His) rs1696367993 0.00001
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.*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.*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.*1_*3del (p.Ter214=) rs1286603999
NM_000551.4(VHL):c.*2034T>A 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.*2960C>A rs886057749
NM_000551.4(VHL):c.*2988G>A rs886057750
NM_000551.4(VHL):c.*3040G>A rs923804041
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.*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.*448G>T rs886057709
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.341-3T>G rs1131690965
NM_000551.4(VHL):c.357C>T (p.Phe119=) rs1559428077
NM_000551.4(VHL):c.385C>G (p.Leu129Val) rs369018004
NM_000551.4(VHL):c.386T>C (p.Leu129Pro) rs1559428119
NM_000551.4(VHL):c.388G>T (p.Val130Phe) rs104893830
NM_000551.4(VHL):c.407T>G (p.Phe136Cys) rs5030833
NM_000551.4(VHL):c.427G>A (p.Asp143Asn)
NM_000551.4(VHL):c.429C>G (p.Asp143Glu) rs773556807
NM_000551.4(VHL):c.430G>A (p.Gly144Arg) rs869025650
NM_000551.4(VHL):c.435G>C (p.Gln145His) rs771727849
NM_000551.4(VHL):c.445G>C (p.Ala149Pro) rs587780077
NM_000551.4(VHL):c.449A>G (p.Asn150Ser) rs760184234
NM_000551.4(VHL):c.461C>G (p.Pro154Arg) rs1399097617
NM_000551.4(VHL):c.463+5T>G rs1003364563
NM_000551.4(VHL):c.463G>A (p.Val155Met) rs869025659
NM_000551.4(VHL):c.464-117del rs193922612
NM_000551.4(VHL):c.483_500dup (p.Cys162_Arg167dup) rs1553620312
NM_000551.4(VHL):c.490C>G (p.Gln164Glu) rs5030819
NM_000551.4(VHL):c.493G>A (p.Val165Ile) rs1575932103
NM_000551.4(VHL):c.497T>G (p.Val166Gly) rs397516445
NM_000551.4(VHL):c.512A>G (p.Lys171Arg) rs1696358528
NM_000551.4(VHL):c.513G>C (p.Lys171Asn) rs1365445365
NM_000551.4(VHL):c.530G>C (p.Arg177Thr) rs1470394966
NM_000551.4(VHL):c.539T>G (p.Ile180Ser) rs1559429750
NM_000551.4(VHL):c.540C>G (p.Ile180Met) rs374927292
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.545G>C (p.Arg182Thr) rs749774529
NM_000551.4(VHL):c.545G>T (p.Arg182Met) rs749774529
NM_000551.4(VHL):c.546del (p.Arg182fs) rs869025665
NM_000551.4(VHL):c.558_560del (p.Glu186del) rs1559429813
NM_000551.4(VHL):c.572A>G (p.His191Arg) rs370050374
NM_000551.4(VHL):c.574C>T (p.Pro192Ser) rs28940300
NM_000551.4(VHL):c.575C>T (p.Pro192Leu) rs902694906
NM_000551.4(VHL):c.585_606dup (p.Gln203fs) rs1559429876
NM_000551.4(VHL):c.586A>G (p.Lys196Glu) rs281860296
NM_000551.4(VHL):c.593T>C (p.Leu198Pro) rs869025667
NM_000551.4(VHL):c.596A>G (p.Glu199Gly) rs760690217
NM_000551.4(VHL):c.610G>C (p.Glu204Gln) rs758853661
NM_000551.4(VHL):c.610G>T (p.Glu204Ter) rs758853661
NM_000551.4(VHL):c.613C>G (p.Arg205Gly) rs199926195
NM_000551.4(VHL):c.613C>T (p.Arg205Cys) rs199926195
NM_000551.4(VHL):c.614G>C (p.Arg205Pro) rs777130107
NM_000551.4(VHL):c.614G>T (p.Arg205Leu) rs777130107
NM_000551.4(VHL):c.625C>G (p.Gln209Glu) rs1559429968

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.