ClinVar Miner

List of variants studied for cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 94
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HGVS dbSNP gnomAD frequency
NM_003383.5(VLDLR):c.-69A>G rs12379259 0.81906
NM_003383.5(VLDLR):c.82+7G>A rs2219143 0.31539
NM_003383.5(VLDLR):c.-56C>T rs34881325 0.31505
NM_003383.5(VLDLR):c.2416+8G>T rs6145 0.23708
NM_003383.5(VLDLR):c.*551T>C rs8210 0.16040
NM_003383.5(VLDLR):c.1187-3C>T rs11789583 0.15129
NM_003383.5(VLDLR):c.2067A>G (p.Gln689=) rs6148 0.13882
NM_003383.5(VLDLR):c.*180G>A rs3421 0.10555
NM_003383.5(VLDLR):c.175G>A (p.Val59Ile) rs6149 0.05632
NM_003383.5(VLDLR):c.1458C>T (p.Ala486=) rs6143 0.04393
NM_003383.5(VLDLR):c.944-5T>C rs35782329 0.02900
NM_003383.5(VLDLR):c.24G>A (p.Ala8=) rs34336270 0.02372
NM_003383.5(VLDLR):c.449-12C>T rs73640152 0.00648
NM_003383.5(VLDLR):c.*534T>C rs10967349 0.00601
NM_003383.5(VLDLR):c.-171G>C rs35763266 0.00583
NM_003383.5(VLDLR):c.2041C>T (p.Leu681=) rs79720897 0.00518
NM_003383.5(VLDLR):c.2291C>T (p.Thr764Met) rs56737058 0.00223
NM_003383.5(VLDLR):c.*46C>G rs35412127 0.00174
NM_003383.5(VLDLR):c.902G>A (p.Arg301Gln) rs139671268 0.00141
NM_003383.5(VLDLR):c.242A>G (p.Asn81Ser) rs140526335 0.00115
NM_003383.5(VLDLR):c.-111C>T rs374367278 0.00109
NM_003383.5(VLDLR):c.1901G>A (p.Arg634His) rs35339834 0.00098
NM_003383.5(VLDLR):c.468C>T (p.Pro156=) rs2242105 0.00092
NM_003383.5(VLDLR):c.1809C>T (p.Asn603=) rs6147 0.00088
NM_003383.5(VLDLR):c.1791G>A (p.Ala597=) rs115773578 0.00054
NM_003383.5(VLDLR):c.1643A>G (p.Lys548Arg) rs148487944 0.00053
NM_003383.5(VLDLR):c.71C>A (p.Ala24Asp) rs754340855 0.00046
NM_003383.5(VLDLR):c.-122T>C rs886063802 0.00040
NM_003383.5(VLDLR):c.*48C>T rs368949453 0.00034
NM_003383.5(VLDLR):c.792C>T (p.Cys264=) rs141850403 0.00034
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.732C>G (p.Ile244Met) rs145995735 0.00026
NM_003383.5(VLDLR):c.954C>T (p.Cys318=) rs373943845 0.00026
NM_003383.5(VLDLR):c.1532A>G (p.Asn511Ser) rs182216426 0.00025
NM_003383.5(VLDLR):c.2104+5C>T rs201953557 0.00022
NM_003383.5(VLDLR):c.738C>T (p.Cys246=) rs116687040 0.00020
NM_003383.5(VLDLR):c.1838G>A (p.Arg613His) rs35948251 0.00018
NM_003383.5(VLDLR):c.582C>T (p.Gly194=) rs148012674 0.00018
NM_003383.5(VLDLR):c.2395G>A (p.Ala799Thr) rs183359461 0.00012
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.-207G>A rs1429851395 0.00007
NM_003383.5(VLDLR):c.2270C>T (p.Thr757Ile) rs17848383 0.00007
NM_003383.5(VLDLR):c.639C>T (p.Asp213=) rs779155452 0.00007
NM_003383.5(VLDLR):c.921C>T (p.Ser307=) rs777240049 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.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.*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.-154C>G rs985479340 0.00003
NM_003383.5(VLDLR):c.1343G>A (p.Arg448Gln) rs137946976 0.00003
NM_003383.5(VLDLR):c.2222A>G (p.Asn741Ser) rs371150001 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.*267A>G rs1036108012 0.00002
NM_003383.5(VLDLR):c.-121C>T rs886063803 0.00002
NM_003383.5(VLDLR):c.-303C>G rs1816795166 0.00002
NM_003383.5(VLDLR):c.692G>A (p.Arg231His) rs767529669 0.00002
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.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.2379A>G (p.Pro793=) rs1300402424 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.-113C>G rs34433332
NM_003383.5(VLDLR):c.-302T>C rs1007541973
NM_003383.5(VLDLR):c.-335C>T rs557105742
NM_003383.5(VLDLR):c.-99C>G rs1816811812
NM_003383.5(VLDLR):c.1703+10C>G rs372047946
NM_003383.5(VLDLR):c.1971C>T (p.Val657=) rs1039272492
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.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.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

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