ClinVar Miner

List of variants in gene combination LOC107303340, VHL reported by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 237
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HGVS dbSNP gnomAD frequency
NM_000551.4(VHL):c.463+8C>T rs5030834 0.00051
NM_000551.4(VHL):c.629G>A (p.Arg210Gln) rs138780791 0.00013
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) rs28940298 0.00010
NM_000551.4(VHL):c.531A>G (p.Arg177=) rs766088261 0.00006
NM_000551.4(VHL):c.552C>T (p.Leu184=) rs779157605 0.00005
NM_000551.4(VHL):c.420C>A (p.Leu140=) rs369465430 0.00004
NM_000551.4(VHL):c.555C>T (p.Tyr185=) rs864622109 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.375C>T (p.His125=) rs863224372 0.00003
NM_000551.4(VHL):c.427G>C (p.Asp143His) rs372757722 0.00003
NM_000551.4(VHL):c.463+4C>T rs879253989 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.612G>A (p.Glu204=) rs747805018 0.00003
NM_000551.4(VHL):c.614G>A (p.Arg205His) rs777130107 0.00003
NM_000551.4(VHL):c.628C>T (p.Arg210Trp) rs774380450 0.00003
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.526A>G (p.Arg176Gly) rs1575932259 0.00002
NM_000551.4(VHL):c.605C>T (p.Thr202Ile) rs779514074 0.00002
NM_000551.4(VHL):c.620C>T (p.Ala207Val) rs1060503549 0.00002
NM_000551.4(VHL):c.341-25_370dup rs1553619923 0.00001
NM_000551.4(VHL):c.354C>T (p.Leu118=) rs1051892430 0.00001
NM_000551.4(VHL):c.373C>T (p.His125Tyr) rs375401722 0.00001
NM_000551.4(VHL):c.377A>G (p.Asp126Gly) rs1354593943 0.00001
NM_000551.4(VHL):c.385C>T (p.Leu129=) rs369018004 0.00001
NM_000551.4(VHL):c.387G>T (p.Leu129=) rs778846471 0.00001
NM_000551.4(VHL):c.408T>G (p.Phe136Leu) rs878854125 0.00001
NM_000551.4(VHL):c.416C>G (p.Ser139Cys) rs587780732 0.00001
NM_000551.4(VHL):c.417T>A (p.Ser139=) rs1406004337 0.00001
NM_000551.4(VHL):c.426T>C (p.Val142=) rs143594610 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.464-3C>T rs904414377 0.00001
NM_000551.4(VHL):c.465G>A (p.Val155=) rs1696354036 0.00001
NM_000551.4(VHL):c.492G>C (p.Gln164His) rs1352275281 0.00001
NM_000551.4(VHL):c.499C>T (p.Arg167Trp) rs5030820 0.00001
NM_000551.4(VHL):c.507A>C (p.Leu169=) rs878854126 0.00001
NM_000551.4(VHL):c.513G>T (p.Lys171Asn) rs1365445365 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.548C>T (p.Ser183Leu) rs5030823 0.00001
NM_000551.4(VHL):c.561T>C (p.Asp187=) rs370769257 0.00001
NM_000551.4(VHL):c.578A>G (p.Asn193Ser) rs879254225 0.00001
NM_000551.4(VHL):c.594G>C (p.Leu198=) rs1575932599 0.00001
NM_000551.4(VHL):c.596A>C (p.Glu199Ala) rs760690217 0.00001
NM_000551.4(VHL):c.599G>A (p.Arg200Gln) rs754016774 0.00001
NM_000551.4(VHL):c.608A>G (p.Gln203Arg) rs1270568049 0.00001
NM_000551.4(VHL):c.627A>G (p.Gln209=) rs758494789 0.00001
NM_000551.4(VHL):c.634G>T (p.Gly212Ter) rs1553620389 0.00001
NM_000551.3(VHL):c.464_480del17
NM_000551.4(VHL):c.340+832T>C rs1696165411
NM_000551.4(VHL):c.341-1G>A rs1575927648
NM_000551.4(VHL):c.341-3T>G rs1131690965
NM_000551.4(VHL):c.341-4A>T rs1559428033
NM_000551.4(VHL):c.341-5G>A rs372340900
NM_000551.4(VHL):c.343C>T (p.His115Tyr)
NM_000551.4(VHL):c.344A>C (p.His115Pro) rs5030812
NM_000551.4(VHL):c.344A>G (p.His115Arg) rs5030812
NM_000551.4(VHL):c.345C>T (p.His115=) rs864622646
NM_000551.4(VHL):c.347T>G (p.Leu116Arg) rs879254230
NM_000551.4(VHL):c.351G>T (p.Trp117Cys) rs727504215
NM_000551.4(VHL):c.353T>C (p.Leu118Pro) rs5030830
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>A (p.Phe119Leu)
NM_000551.4(VHL):c.357C>G (p.Phe119Leu) rs1559428077
NM_000551.4(VHL):c.358del (p.Arg120fs) rs1131690956
NM_000551.4(VHL):c.363dup (p.Ala122fs) rs1575927767
NM_000551.4(VHL):c.364G>A (p.Ala122Thr) rs1064793291
NM_000551.4(VHL):c.365C>A (p.Ala122Glu)
NM_000551.4(VHL):c.365C>T (p.Ala122Val) rs1696261924
NM_000551.4(VHL):c.366A>C (p.Ala122=) rs1474241640
NM_000551.4(VHL):c.366A>G (p.Ala122=) rs1474241640
NM_000551.4(VHL):c.378T>G (p.Asp126Glu) rs764053615
NM_000551.4(VHL):c.383T>C (p.Leu128Pro) rs2125128327
NM_000551.4(VHL):c.385C>G (p.Leu129Val) rs369018004
NM_000551.4(VHL):c.387G>A (p.Leu129=)
NM_000551.4(VHL):c.388G>A (p.Val130Ile)
NM_000551.4(VHL):c.388G>C (p.Val130Leu) rs104893830
NM_000551.4(VHL):c.388del (p.Val130fs) rs1553619957
NM_000551.4(VHL):c.390del (p.Asn131fs)
NM_000551.4(VHL):c.391A>G (p.Asn131Asp)
NM_000551.4(VHL):c.393C>T (p.Asn131=)
NM_000551.4(VHL):c.395A>C (p.Gln132Pro) rs1347416980
NM_000551.4(VHL):c.397A>C (p.Thr133Pro) rs1131690961
NM_000551.4(VHL):c.398C>T (p.Thr133Ile) rs1060503565
NM_000551.4(VHL):c.402_428del (p.Glu134_Val142del)
NM_000551.4(VHL):c.406T>C (p.Phe136Leu)
NM_000551.4(VHL):c.406T>G (p.Phe136Val)
NM_000551.4(VHL):c.407T>G (p.Phe136Cys) rs5030833
NM_000551.4(VHL):c.409G>A (p.Val137Met)
NM_000551.4(VHL):c.411G>C (p.Val137=) rs1553619969
NM_000551.4(VHL):c.414A>G (p.Pro138=) rs869025648
NM_000551.4(VHL):c.417T>G (p.Ser139=) rs1406004337
NM_000551.4(VHL):c.418C>G (p.Leu140Val) rs768637170
NM_000551.4(VHL):c.418_419insA (p.Leu140fs) rs1131690955
NM_000551.4(VHL):c.422A>G (p.Asn141Ser) rs1064796570
NM_000551.4(VHL):c.422dup (p.Asn141fs) rs1553619976
NM_000551.4(VHL):c.426del (p.Asp143fs)
NM_000551.4(VHL):c.430G>A (p.Gly144Arg) rs869025650
NM_000551.4(VHL):c.431G>A (p.Gly144Glu) rs2125128440
NM_000551.4(VHL):c.432A>G (p.Gly144=) rs1575928044
NM_000551.4(VHL):c.432A>T (p.Gly144=)
NM_000551.4(VHL):c.433C>G (p.Gln145Glu) rs749704215
NM_000551.4(VHL):c.435G>A (p.Gln145=)
NM_000551.4(VHL):c.435G>C (p.Gln145His) rs771727849
NM_000551.4(VHL):c.437C>G (p.Pro146Arg)
NM_000551.4(VHL):c.439A>T (p.Ile147Phe)
NM_000551.4(VHL):c.445G>A (p.Ala149Thr) rs587780077
NM_000551.4(VHL):c.445G>T (p.Ala149Ser) rs587780077
NM_000551.4(VHL):c.447C>T (p.Ala149=) rs2125128479
NM_000551.4(VHL):c.448A>C (p.Asn150His)
NM_000551.4(VHL):c.448A>G (p.Asn150Asp)
NM_000551.4(VHL):c.449A>G (p.Asn150Ser) rs760184234
NM_000551.4(VHL):c.451A>C (p.Ile151Leu) rs876659313
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.456A>G (p.Thr152=)
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.461C>G (p.Pro154Arg) rs1399097617
NM_000551.4(VHL):c.461C>T (p.Pro154Leu) rs1399097617
NM_000551.4(VHL):c.463+1G>A rs869025657
NM_000551.4(VHL):c.463+1G>T rs869025657
NM_000551.4(VHL):c.463+3A>C rs1131690954
NM_000551.4(VHL):c.463+3A>G rs1131690954
NM_000551.4(VHL):c.463+4C>G
NM_000551.4(VHL):c.463+5T>G rs1003364563
NM_000551.4(VHL):c.463G>T (p.Val155Leu) rs869025659
NM_000551.4(VHL):c.464-2A>G rs5030816
NM_000551.4(VHL):c.464-7_464-3del
NM_000551.4(VHL):c.467A>G (p.Tyr156Cys) rs397516441
NM_000551.4(VHL):c.472C>G (p.Leu158Val) rs1559429613
NM_000551.4(VHL):c.473T>C (p.Leu158Pro) rs121913346
NM_000551.4(VHL):c.474G>T (p.Leu158=) rs1575932005
NM_000551.4(VHL):c.475A>G (p.Lys159Glu) rs1575932011
NM_000551.4(VHL):c.477A>G (p.Lys159=) rs1696354920
NM_000551.4(VHL):c.480G>A (p.Glu160=)
NM_000551.4(VHL):c.481C>G (p.Arg161Gly) rs5030818
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.482G>C (p.Arg161Pro)
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.485G>A (p.Cys162Tyr) 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.487C>A (p.Leu163Ile)
NM_000551.4(VHL):c.487C>T (p.Leu163Phe) rs1553620318
NM_000551.4(VHL):c.488T>C (p.Leu163Pro) rs28940297
NM_000551.4(VHL):c.489C>G (p.Leu163=) rs1575932067
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.493G>A (p.Val165Ile)
NM_000551.4(VHL):c.496G>T (p.Val166Phe) rs104893825
NM_000551.4(VHL):c.497T>C (p.Val166Ala) 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.506T>C (p.Leu169Pro) rs1131690962
NM_000551.4(VHL):c.506del (p.Leu169fs)
NM_000551.4(VHL):c.508G>A (p.Val170Ile) rs1553620326
NM_000551.4(VHL):c.509T>A (p.Val170Asp) rs864321642
NM_000551.4(VHL):c.510C>A (p.Val170=)
NM_000551.4(VHL):c.510C>T (p.Val170=)
NM_000551.4(VHL):c.513G>C (p.Lys171Asn) rs1365445365
NM_000551.4(VHL):c.514C>T (p.Pro172Ser)
NM_000551.4(VHL):c.515C>T (p.Pro172Leu)
NM_000551.4(VHL):c.516T>G (p.Pro172=) rs1575932227
NM_000551.4(VHL):c.517G>C (p.Glu173Gln)
NM_000551.4(VHL):c.517G>T (p.Glu173Ter) rs1575932228
NM_000551.4(VHL):c.519G>A (p.Glu173=)
NM_000551.4(VHL):c.520A>T (p.Asn174Tyr) rs1060503566
NM_000551.4(VHL):c.522T>C (p.Asn174=) rs1057523911
NM_000551.4(VHL):c.524A>G (p.Tyr175Cys) rs193922613
NM_000551.4(VHL):c.524A>T (p.Tyr175Phe) rs193922613
NM_000551.4(VHL):c.524_527del (p.Asn174_Tyr175insTer)
NM_000551.4(VHL):c.525C>T (p.Tyr175=) rs5030835
NM_000551.4(VHL):c.529_546dup (p.Arg182_Ser183insArgLeuAspIleValArg)
NM_000551.4(VHL):c.532C>G (p.Leu178Val) rs755146587
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.535G>A (p.Asp179Asn) rs767780451
NM_000551.4(VHL):c.541G>A (p.Val181Ile) rs878854127
NM_000551.4(VHL):c.541G>C (p.Val181Leu)
NM_000551.4(VHL):c.543dup (p.Arg182fs) rs1131690958
NM_000551.4(VHL):c.545G>A (p.Arg182Lys) rs749774529
NM_000551.4(VHL):c.548C>A (p.Ser183Ter) rs5030823
NM_000551.4(VHL):c.549G>T (p.Ser183=) rs193922614
NM_000551.4(VHL):c.552C>G (p.Leu184=)
NM_000551.4(VHL):c.555C>G (p.Tyr185Ter) rs864622109
NM_000551.4(VHL):c.558A>C (p.Glu186Asp) rs587778744
NM_000551.4(VHL):c.562C>T (p.Leu188=)
NM_000551.4(VHL):c.572A>C (p.His191Pro) rs370050374
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>G (p.Pro192Arg) rs902694906
NM_000551.4(VHL):c.575C>T (p.Pro192Leu) rs902694906
NM_000551.4(VHL):c.576A>C (p.Pro192=) rs1372952726
NM_000551.4(VHL):c.579T>A (p.Asn193Lys) rs1060503558
NM_000551.4(VHL):c.580G>A (p.Val194Met)
NM_000551.4(VHL):c.581T>G (p.Val194Gly) rs1131690963
NM_000551.4(VHL):c.583C>T (p.Gln195Ter) rs5030825
NM_000551.4(VHL):c.584A>G (p.Gln195Arg)
NM_000551.4(VHL):c.585G>C (p.Gln195His) rs878854128
NM_000551.4(VHL):c.586A>G (p.Lys196Glu) rs281860296
NM_000551.4(VHL):c.588del (p.Asp197fs)
NM_000551.4(VHL):c.592C>T (p.Leu198=) rs1187217673
NM_000551.4(VHL):c.592_607del (p.Leu198fs)
NM_000551.4(VHL):c.593T>C (p.Leu198Pro) rs869025667
NM_000551.4(VHL):c.597G>A (p.Glu199=) rs1387975369
NM_000551.4(VHL):c.601C>T (p.Leu201=) rs786201557
NM_000551.4(VHL):c.606A>C (p.Thr202=) rs1575932637
NM_000551.4(VHL):c.607C>A (p.Gln203Lys) rs750711842
NM_000551.4(VHL):c.607_608del (p.Gln203fs)
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>T (p.Arg205Leu) rs777130107
NM_000551.4(VHL):c.615C>T (p.Arg205=)
NM_000551.4(VHL):c.621A>T (p.Ala207=)
NM_000551.4(VHL):c.622C>T (p.His208Tyr) rs121913347
NM_000551.4(VHL):c.626A>G (p.Gln209Arg) rs770746627
NM_000551.4(VHL):c.627A>T (p.Gln209His) rs758494789
NM_000551.4(VHL):c.631A>T (p.Met211Leu)
NM_000551.4(VHL):c.636A>T (p.Gly212=)
NM_000551.4(VHL):c.639T>G (p.Asp213Glu)
NM_000551.4(VHL):c.640T>A (p.Ter214Arg) rs1575932781

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