ClinVar Miner

List of variants in gene VLDLR reported as uncertain significance for cerebellar ataxia

Included ClinVar conditions (255):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 84
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003383.5(VLDLR):c.*46C>G rs35412127 0.00193
NM_003383.5(VLDLR):c.1901G>A (p.Arg634His) rs35339834 0.00108
NM_003383.5(VLDLR):c.1809C>T (p.Asn603=) rs6147 0.00088
NM_003383.5(VLDLR):c.1643A>G (p.Lys548Arg) rs148487944 0.00053
NM_003383.5(VLDLR):c.1791G>A (p.Ala597=) rs115773578 0.00053
NM_003383.5(VLDLR):c.1313G>A (p.Gly438Asp) rs200605669 0.00050
NM_003383.5(VLDLR):c.-122T>C rs886063802 0.00044
NM_003383.5(VLDLR):c.792C>T (p.Cys264=) rs141850403 0.00036
NM_003383.5(VLDLR):c.*16T>C rs150475109 0.00029
NM_003383.5(VLDLR):c.*83C>T rs755339168 0.00026
NM_003383.5(VLDLR):c.1532A>G (p.Asn511Ser) rs182216426 0.00026
NM_003383.5(VLDLR):c.732C>G (p.Ile244Met) rs145995735 0.00026
NM_003383.5(VLDLR):c.*48C>T rs368949453 0.00024
NM_003383.5(VLDLR):c.2104+5C>T rs201953557 0.00022
NM_003383.5(VLDLR):c.1132T>C (p.Tyr378His) rs142885301 0.00021
NM_003383.5(VLDLR):c.582C>T (p.Gly194=) rs148012674 0.00018
NM_003383.5(VLDLR):c.1838G>A (p.Arg613His) rs35948251 0.00017
NM_003383.5(VLDLR):c.2395G>A (p.Ala799Thr) rs183359461 0.00012
NM_003383.5(VLDLR):c.1667G>A (p.Arg556Gln) rs746518411 0.00011
NM_003383.5(VLDLR):c.*460G>A rs550310153 0.00010
NM_003383.5(VLDLR):c.*63C>T rs17848373 0.00010
NM_003383.5(VLDLR):c.-392C>T rs867729388 0.00010
NM_003383.5(VLDLR):c.639C>T (p.Asp213=) rs779155452 0.00008
NM_003383.5(VLDLR):c.-207G>A rs1429851395 0.00007
NM_003383.5(VLDLR):c.1041G>C (p.Trp347Cys) rs114872818 0.00006
NM_003383.5(VLDLR):c.1179C>T (p.Thr393=) rs372577949 0.00006
NM_003383.5(VLDLR):c.2270C>T (p.Thr757Ile) rs17848383 0.00006
NM_003383.5(VLDLR):c.449-14C>G rs370176704 0.00006
NM_003383.5(VLDLR):c.1966C>T (p.Arg656Cys) rs754226022 0.00005
NM_003383.5(VLDLR):c.469G>A (p.Asp157Asn) rs768045623 0.00005
NM_003383.5(VLDLR):c.640G>A (p.Asp214Asn) rs113347960 0.00005
NM_003383.5(VLDLR):c.921C>T (p.Ser307=) rs777240049 0.00005
NM_003383.5(VLDLR):c.*281G>C rs753515879 0.00004
NM_003383.5(VLDLR):c.1755A>C (p.Gly585=) rs372963310 0.00004
NM_003383.5(VLDLR):c.2416+13C>T rs200878136 0.00004
NM_003383.5(VLDLR):c.2546T>C (p.Ile849Thr) rs116082439 0.00004
NM_003383.5(VLDLR):c.2222A>G (p.Asn741Ser) rs371150001 0.00003
NM_003383.5(VLDLR):c.692G>A (p.Arg231His) rs767529669 0.00003
NM_003383.5(VLDLR):c.*192C>T rs763576733 0.00002
NM_003383.5(VLDLR):c.*21C>T rs776834603 0.00002
NM_003383.5(VLDLR):c.-121C>T rs886063803 0.00002
NM_003383.5(VLDLR):c.-154C>G rs985479340 0.00002
NM_003383.5(VLDLR):c.704T>C (p.Ile235Thr) rs778029251 0.00002
NM_003383.5(VLDLR):c.*267A>G rs1036108012 0.00001
NM_003383.5(VLDLR):c.*51C>T rs752035004 0.00001
NM_003383.5(VLDLR):c.-48G>C rs1054805961 0.00001
NM_003383.5(VLDLR):c.1066+14T>C rs762128149 0.00001
NM_003383.5(VLDLR):c.1343G>A (p.Arg448Gln) rs137946976 0.00001
NM_003383.5(VLDLR):c.1546G>A (p.Ala516Thr) rs369197633 0.00001
NM_003383.5(VLDLR):c.2104+6G>A rs773398189 0.00001
NM_003383.5(VLDLR):c.2251A>T (p.Ser751Cys) rs1818277717 0.00001
NM_003383.5(VLDLR):c.299G>C (p.Gly100Ala) rs753848585 0.00001
NM_003383.5(VLDLR):c.541G>A (p.Asp181Asn) rs144469558 0.00001
NM_003383.5(VLDLR):c.*214C>T rs189180202
NM_003383.5(VLDLR):c.*351C>G rs1818497609
NM_003383.5(VLDLR):c.*45C>T rs920949909
NM_003383.5(VLDLR):c.*517G>C rs886063813
NM_003383.5(VLDLR):c.*98G>A rs543466401
NM_003383.5(VLDLR):c.-302T>C rs1007541973
NM_003383.5(VLDLR):c.-303C>G rs1816795166
NM_003383.5(VLDLR):c.-335C>T rs557105742
NM_003383.5(VLDLR):c.-99C>G rs1816811812
NM_003383.5(VLDLR):c.1213A>C (p.Ile405Leu)
NM_003383.5(VLDLR):c.1374del (p.Glu460fs) rs1586653366
NM_003383.5(VLDLR):c.1452C>A (p.Phe484Leu) rs144724569
NM_003383.5(VLDLR):c.1703+10C>G rs372047946
NM_003383.5(VLDLR):c.1971C>T (p.Val657=) rs1039272492
NM_003383.5(VLDLR):c.2089C>T (p.Leu697Phe) rs1818184738
NM_003383.5(VLDLR):c.2103A>C (p.Ser701=) rs886063811
NM_003383.5(VLDLR):c.2104G>C (p.Gly702Arg) rs1454735635
NM_003383.5(VLDLR):c.2168C>T (p.Pro723Leu) rs1818271045
NM_003383.5(VLDLR):c.2379A>G (p.Pro793=) rs1300402424
NM_003383.5(VLDLR):c.2582C>G (p.Pro861Arg)
NM_003383.5(VLDLR):c.263G>A (p.Arg88Gln)
NM_003383.5(VLDLR):c.311G>T (p.Ser104Ile)
NM_003383.5(VLDLR):c.449-112G>A
NM_003383.5(VLDLR):c.505A>G (p.Arg169Gly) rs777739092
NM_003383.5(VLDLR):c.570G>C (p.Pro190=) rs116556362
NM_003383.5(VLDLR):c.711C>G (p.Thr237=) rs781637501
NM_003383.5(VLDLR):c.772T>C (p.Cys258Arg)
NM_003383.5(VLDLR):c.828A>C (p.Arg276=) rs777520243
NM_003383.5(VLDLR):c.862G>T (p.Gly288Cys) rs886063808
NM_003383.5(VLDLR):c.863G>C (p.Gly288Ala) rs886063809
NM_003383.5(VLDLR):c.919T>C (p.Ser307Pro) rs1817930978

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.