ClinVar Miner

List of variants in gene combination LOC107303340, VHL studied for Hereditary cancer-predisposing syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 102
Download table as spreadsheet
HGVS dbSNP
NM_000551.3(VHL):c.341-1133C>T rs116710496
NM_000551.3(VHL):c.341-1135T>C rs572770652
NM_000551.3(VHL):c.341-1173C>T rs547519244
NM_000551.3(VHL):c.341-3T>G rs1131690965
NM_000551.3(VHL):c.341-5G>A rs372340900
NM_000551.3(VHL):c.351G>T (p.Trp117Cys) rs727504215
NM_000551.3(VHL):c.353T>C (p.Leu118Pro) rs5030830
NM_000551.3(VHL):c.353T>G (p.Leu118Arg) rs5030830
NM_000551.3(VHL):c.364G>A (p.Ala122Thr) rs1064793291
NM_000551.3(VHL):c.373C>T (p.His125Tyr) rs375401722
NM_000551.3(VHL):c.377A>G (p.Asp126Gly) rs1354593943
NM_000551.3(VHL):c.385C>G (p.Leu129Val) 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.397A>C (p.Thr133Pro) rs1131690961
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.416C>G (p.Ser139Cys) rs587780732
NM_000551.3(VHL):c.418_419insA (p.Leu140fs) rs1131690955
NM_000551.3(VHL):c.422A>G (p.Asn141Ser) rs1064796570
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.445G>T (p.Ala149Ser) rs587780077
NM_000551.3(VHL):c.451A>C (p.Ile151Leu) rs876659313
NM_000551.3(VHL):c.452T>C (p.Ile151Thr) rs869025655
NM_000551.3(VHL):c.458T>A (p.Leu153Gln) rs193922611
NM_000551.3(VHL):c.460C>T (p.Pro154Ser) rs1553619993
NM_000551.3(VHL):c.463+3A>G rs1131690954
NM_000551.3(VHL):c.463+4C>T rs879253989
NM_000551.3(VHL):c.464-2A>G rs5030816
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.483_500dup (p.Cys162_Arg167dup) rs1553620312
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.491A>G (p.Gln164Arg) rs267607170
NM_000551.3(VHL):c.492G>C (p.Gln164His) rs1352275281
NM_000551.3(VHL):c.496G>T (p.Val166Phe) rs104893825
NM_000551.3(VHL):c.499C>T (p.Arg167Trp) rs5030820
NM_000551.3(VHL):c.500G>C (p.Arg167Pro) rs5030821
NM_000551.3(VHL):c.506T>C (p.Leu169Pro) rs1131690962
NM_000551.3(VHL):c.508G>A (p.Val170Ile) rs1553620326
NM_000551.3(VHL):c.524A>G (p.Tyr175Cys) rs193922613
NM_000551.3(VHL):c.533T>C (p.Leu178Pro) rs5030822
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.544A>G (p.Arg182Gly) rs778205243
NM_000551.3(VHL):c.545G>A (p.Arg182Lys) rs749774529
NM_000551.3(VHL):c.552C>T (p.Leu184=) rs779157605
NM_000551.3(VHL):c.554A>G (p.Tyr185Cys) rs561874453
NM_000551.3(VHL):c.555C>G (p.Tyr185Ter) rs864622109
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.561T>C (p.Asp187=) rs370769257
NM_000551.3(VHL):c.574C>T (p.Pro192Ser) rs28940300
NM_000551.3(VHL):c.578A>G (p.Asn193Ser) rs879254225
NM_000551.3(VHL):c.581T>G (p.Val194Gly) rs1131690963
NM_000551.3(VHL):c.583C>T (p.Gln195Ter) rs5030825
NM_000551.3(VHL):c.593T>C (p.Leu198Pro) rs869025667
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.601C>T (p.Leu201=) rs786201557
NM_000551.3(VHL):c.608A>G (p.Gln203Arg) rs1270568049
NM_000551.3(VHL):c.612G>A (p.Glu204=) rs747805018
NM_000551.3(VHL):c.614G>A (p.Arg205His) rs777130107
NM_000551.3(VHL):c.627A>G (p.Gln209=) rs758494789
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.634G>T (p.Gly212Ter) rs1553620389
NM_000551.3(VHL):c.639T>C (p.Asp213=) rs775624944
NM_000551.4(VHL):c.341-1G>A rs1575927648
NM_000551.4(VHL):c.363dup (p.Ala122fs) rs1575927767
NM_000551.4(VHL):c.376G>A (p.Asp126Asn) rs104893831
NM_000551.4(VHL):c.378T>G (p.Asp126Glu) rs764053615
NM_000551.4(VHL):c.414A>G (p.Pro138=) rs869025648
NM_000551.4(VHL):c.432A>G (p.Gly144=) rs1575928044
NM_000551.4(VHL):c.439A>G (p.Ile147Val) rs1057517560
NM_000551.4(VHL):c.463+8C>T rs5030834
NM_000551.4(VHL):c.463G>T (p.Val155Leu) rs869025659
NM_000551.4(VHL):c.467A>G (p.Tyr156Cys) rs397516441
NM_000551.4(VHL):c.475A>G (p.Lys159Glu) rs1575932011
NM_000551.4(VHL):c.481C>T (p.Arg161Ter) rs5030818
NM_000551.4(VHL):c.497T>C (p.Val166Ala) rs397516445
NM_000551.4(VHL):c.500G>A (p.Arg167Gln) rs5030821
NM_000551.4(VHL):c.501_502insTTGTCCGT rs398123483
NM_000551.4(VHL):c.517G>T (p.Glu173Ter) rs1575932228
NM_000551.4(VHL):c.524A>T (p.Tyr175Phe) rs193922613
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.562C>G (p.Leu188Val) rs5030824
NM_000551.4(VHL):c.575C>G (p.Pro192Arg) rs902694906
NM_000551.4(VHL):c.594G>C (p.Leu198=) rs1575932599
NM_000551.4(VHL):c.597G>A (p.Glu199=) rs1387975369
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) rs28940298
NM_000551.4(VHL):c.614_615del (p.Arg205fs) rs730882030
NM_000551.4(VHL):c.626A>G (p.Gln209Arg) rs770746627
NM_000551.4(VHL):c.640T>A (p.Ter214Arg) rs1575932781
NM_001354723.2(VHL):c.*97dup rs1131690958
NM_198156.3(VHL):c.341-3192dup rs1553619976
NM_198156.3(VHL):c.341-3226del rs1553619957
NM_198156.3(VHL):c.341-3256del rs1131690956

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.