ClinVar Miner

List of variants studied for isolated cerebellar hypoplasia/agenesis by Illumina Laboratory Services, Illumina

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 59
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003383.5(VLDLR):c.-69A>G rs12379259 0.81906
NM_003383.5(VLDLR):c.-56C>T rs34881325 0.31505
NM_003383.5(VLDLR):c.82+7G>A rs2219143 0.31376
NM_003383.5(VLDLR):c.2416+8G>T rs6145 0.24562
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 0.03136
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.-171G>C rs35763266 0.00593
NM_003383.5(VLDLR):c.2041C>T (p.Leu681=) rs79720897 0.00518
NM_003383.5(VLDLR):c.-111C>T rs374367278 0.00109
NM_003383.5(VLDLR):c.1901G>A (p.Arg634His) rs35339834 0.00108
NM_003383.5(VLDLR):c.468C>T (p.Pro156=) rs2242105 0.00058
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.71C>A (p.Ala24Asp) rs754340855 0.00046
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.582C>T (p.Gly194=) rs148012674 0.00018
NM_003383.5(VLDLR):c.1838G>A (p.Arg613His) rs35948251 0.00017
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.540C>T (p.Ser180=) rs367872112 0.00009
NM_003383.5(VLDLR):c.1966C>T (p.Arg656Cys) rs754226022 0.00005
NM_003383.5(VLDLR):c.1755A>C (p.Gly585=) rs372963310 0.00004
NM_003383.5(VLDLR):c.2546T>C (p.Ile849Thr) rs116082439 0.00004
NM_003383.5(VLDLR):c.692G>A (p.Arg231His) rs767529669 0.00003
NM_003383.5(VLDLR):c.-121C>T rs886063803 0.00002
NM_003383.5(VLDLR):c.1066+14T>C rs762128149 0.00001
NM_003383.5(VLDLR):c.*490T>G rs886063812
NM_003383.5(VLDLR):c.*517G>C rs886063813
NM_003383.5(VLDLR):c.*595_*598dup rs886063814
NM_003383.5(VLDLR):c.-113C>G rs34433332
NM_003383.5(VLDLR):c.-167dup rs886063801
NM_003383.5(VLDLR):c.-19_-18insGGCACCGGC rs1554617688
NM_003383.5(VLDLR):c.-25_-24insATCCAG rs886063807
NM_003383.5(VLDLR):c.-335C>T rs557105742
NM_003383.5(VLDLR):c.-42GGC[4] rs71329437
NM_003383.5(VLDLR):c.-42GGC[5] rs71329437
NM_003383.5(VLDLR):c.-42GGC[7] rs71329437
NM_003383.5(VLDLR):c.-42GGC[9] rs71329437
NM_003383.5(VLDLR):c.-56_-54del rs886063804
NM_003383.5(VLDLR):c.1703+10C>G rs372047946
NM_003383.5(VLDLR):c.2103A>C (p.Ser701=) rs886063811
NM_003383.5(VLDLR):c.505A>G (p.Arg169Gly) rs777739092
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.943+10del rs761373572

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.