ClinVar Miner

List of variants in gene combination LOC107303340, VHL reported as uncertain significance

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 189
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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
NM_000551.3(VHL):c.*1072C>T rs886057715
NM_000551.3(VHL):c.*1172C>T rs528852958
NM_000551.3(VHL):c.*1207G>A rs139557214
NM_000551.3(VHL):c.*1249G>A rs886057716
NM_000551.3(VHL):c.*1281A>G rs886057717
NM_000551.3(VHL):c.*1330A>G rs886057718
NM_000551.3(VHL):c.*1347C>A rs886057719
NM_000551.3(VHL):c.*1371A>G rs771759826
NM_000551.3(VHL):c.*1419A>G rs141916278
NM_000551.3(VHL):c.*1481G>A rs886057720
NM_000551.3(VHL):c.*1513A>G rs538580892
NM_000551.3(VHL):c.*1617G>T rs886057721
NM_000551.3(VHL):c.*1643C>A rs886057722
NM_000551.3(VHL):c.*1677C>T rs886057723
NM_000551.3(VHL):c.*1691A>G rs539201437
NM_000551.3(VHL):c.*1741G>T rs886057724
NM_000551.3(VHL):c.*1780C>G rs886057725
NM_000551.3(VHL):c.*1782T>G rs886057726
NM_000551.3(VHL):c.*1808A>G rs886057727
NM_000551.3(VHL):c.*1887C>A rs886057728
NM_000551.3(VHL):c.*1922G>A rs886057729
NM_000551.3(VHL):c.*2034T>A rs1136249
NM_000551.3(VHL):c.*2090delT rs886057730
NM_000551.3(VHL):c.*2093delC rs886057731
NM_000551.3(VHL):c.*2094delT rs886057732
NM_000551.3(VHL):c.*2117delA rs757106274
NM_000551.3(VHL):c.*2118delT rs886057733
NM_000551.3(VHL):c.*2224A>G rs886057734
NM_000551.3(VHL):c.*2419dupA rs564788050
NM_000551.3(VHL):c.*2432T>G rs886057736
NM_000551.3(VHL):c.*2540_*2545delTTTTTT rs71052299
NM_000551.3(VHL):c.*2541_*2546delTTTTTG rs886057738
NM_000551.3(VHL):c.*2543_*2546delTTTG rs886057739
NM_000551.3(VHL):c.*2545delT rs71052299
NM_000551.3(VHL):c.*2548_*2549delGA rs886057740
NM_000551.3(VHL):c.*2562C>T rs747406421
NM_000551.3(VHL):c.*2571A>G rs886057741
NM_000551.3(VHL):c.*2647C>A rs886057742
NM_000551.3(VHL):c.*2660T>A rs886057743
NM_000551.3(VHL):c.*266_*269delTCAG rs886057704
NM_000551.3(VHL):c.*2670G>C rs886057744
NM_000551.3(VHL):c.*2738G>A rs886057745
NM_000551.3(VHL):c.*2762T>C rs886057746
NM_000551.3(VHL):c.*2782C>G rs886057747
NM_000551.3(VHL):c.*280A>G rs886057705
NM_000551.3(VHL):c.*2812A>C rs886057748
NM_000551.3(VHL):c.*2854G>T rs546347626
NM_000551.3(VHL):c.*2960C>A rs886057749
NM_000551.3(VHL):c.*2988G>A rs886057750
NM_000551.3(VHL):c.*3128G>A rs886057751
NM_000551.3(VHL):c.*3205C>T rs561918442
NM_000551.3(VHL):c.*3222A>G rs886057752
NM_000551.3(VHL):c.*3249C>T rs886057753
NM_000551.3(VHL):c.*3261T>C rs886057754
NM_000551.3(VHL):c.*3330_*3336dupACAAAAA rs886057755
NM_000551.3(VHL):c.*3389G>A rs368247150
NM_000551.3(VHL):c.*3470G>T rs886057756
NM_000551.3(VHL):c.*349G>T rs886057706
NM_000551.3(VHL):c.*3506G>T rs886057759
NM_000551.3(VHL):c.*3545C>A rs886057760
NM_000551.3(VHL):c.*3616C>T rs750516726
NM_000551.3(VHL):c.*3625T>A rs552161251
NM_000551.3(VHL):c.*3645_*3646insGT rs1553620861
NM_000551.3(VHL):c.*385delT rs886057707
NM_000551.3(VHL):c.*392G>A rs886057708
NM_000551.3(VHL):c.*448G>T rs886057709
NM_000551.3(VHL):c.*597G>A rs886057711
NM_000551.3(VHL):c.*635G>A rs886057712
NM_000551.3(VHL):c.*687C>A rs886057713
NM_000551.3(VHL):c.*7C>G rs778005138
NM_000551.3(VHL):c.*816G>C rs142396182
NM_000551.3(VHL):c.*989C>T rs186084634
NM_000551.3(VHL):c.341-21_341-19delAAC rs779747717
NM_000551.3(VHL):c.341-25_370dup rs1553619923
NM_000551.3(VHL):c.341-3T>G rs1131690965
NM_000551.3(VHL):c.341-5G>T
NM_000551.3(VHL):c.341-6C>G
NM_000551.3(VHL):c.341-8C>G rs1272767361
NM_000551.3(VHL):c.345C>G (p.His115Gln) rs864622646
NM_000551.3(VHL):c.347T>G (p.Leu116Arg) rs879254230
NM_000551.3(VHL):c.364G>A (p.Ala122Thr) rs1064793291
NM_000551.3(VHL):c.364G>T (p.Ala122Ser) rs1064793291
NM_000551.3(VHL):c.373C>T (p.His125Tyr) rs375401722
NM_000551.3(VHL):c.376G>A (p.Asp126Asn) rs104893831
NM_000551.3(VHL):c.376G>C (p.Asp126His) 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.386T>C (p.Leu129Pro) rs1559428119
NM_000551.3(VHL):c.388G>T (p.Val130Phe) rs104893830
NM_000551.3(VHL):c.393C>A (p.Asn131Lys) rs1064794272
NM_000551.3(VHL):c.398C>T (p.Thr133Ile) rs1060503565
NM_000551.3(VHL):c.407T>G (p.Phe136Cys) rs5030833
NM_000551.3(VHL):c.408T>G (p.Phe136Leu) rs878854125
NM_000551.3(VHL):c.414A>G (p.Pro138=) rs869025648
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.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>G (p.Asp143Glu) rs773556807
NM_000551.3(VHL):c.429C>T (p.Asp143=) rs773556807
NM_000551.3(VHL):c.430G>A (p.Gly144Arg)
NM_000551.3(VHL):c.430G>C (p.Gly144Arg) 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)
NM_000551.3(VHL):c.439A>G (p.Ile147Val) rs1057517560
NM_000551.3(VHL):c.440T>C (p.Ile147Thr) rs1060503555
NM_000551.3(VHL):c.445G>C (p.Ala149Pro) rs587780077
NM_000551.3(VHL):c.449A>G (p.Asn150Ser) rs760184234
NM_000551.3(VHL):c.451A>C (p.Ile151Leu) rs876659313
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.462A>G (p.Pro154=) rs1060503562
NM_000551.3(VHL):c.463+3A>G rs1131690954
NM_000551.3(VHL):c.463+4C>T rs879253989
NM_000551.3(VHL):c.463G>A (p.Val155Met) rs869025659
NM_000551.3(VHL):c.464-117delT rs193922612
NM_000551.3(VHL):c.464-3C>T
NM_000551.3(VHL):c.483_500dup (p.Cys162_Arg167dup) rs1553620312
NM_000551.3(VHL):c.486C>G (p.Cys162Trp) rs5030622
NM_000551.3(VHL):c.488T>G (p.Leu163Arg) rs28940297
NM_000551.3(VHL):c.490C>G (p.Gln164Glu) rs5030819
NM_000551.3(VHL):c.493G>T (p.Val165Phe)
NM_000551.3(VHL):c.494T>G (p.Val165Gly)
NM_000551.3(VHL):c.497T>G (p.Val166Gly) rs397516445
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)
NM_000551.3(VHL):c.526A>G (p.Arg176Gly)
NM_000551.3(VHL):c.532C>G (p.Leu178Val)
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.539T>G (p.Ile180Ser) rs1559429750
NM_000551.3(VHL):c.540_543del (p.Val181fs) rs869025664
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.546del (p.Arg182fs) rs869025665
NM_000551.3(VHL):c.548C>T (p.Ser183Leu) rs5030823
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.556G>A (p.Glu186Lys) rs367545984
NM_000551.3(VHL):c.558_560del (p.Glu186del) rs1559429813
NM_000551.3(VHL):c.562C>G (p.Leu188Val) rs5030824
NM_000551.3(VHL):c.568_570dup (p.Asp190dup) rs1559429840
NM_000551.3(VHL):c.572A>C (p.His191Pro) rs370050374
NM_000551.3(VHL):c.572A>G (p.His191Arg)
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.581T>G (p.Val194Gly) rs1131690963
NM_000551.3(VHL):c.585G>C (p.Gln195His) rs878854128
NM_000551.3(VHL):c.585_606dup (p.Gln203fs) rs1559429876
NM_000551.3(VHL):c.586A>G (p.Lys196Glu) rs281860296
NM_000551.3(VHL):c.589G>C (p.Asp197His) rs1064794951
NM_000551.3(VHL):c.590A>C (p.Asp197Ala)
NM_000551.3(VHL):c.596A>C (p.Glu199Ala) rs760690217
NM_000551.3(VHL):c.598C>T (p.Arg200Trp) rs28940298
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.608A>G (p.Gln203Arg) rs1270568049
NM_000551.3(VHL):c.610G>C (p.Glu204Gln)
NM_000551.3(VHL):c.610G>T (p.Glu204Ter) rs758853661
NM_000551.3(VHL):c.613C>G (p.Arg205Gly)
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.617_618delinsAG (p.Ile206Lys) rs1060503567
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)
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

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