ClinVar Miner

List of variants reported as uncertain significance for cerebellar hypoplasia-tapetoretinal degeneration syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 46
Download table as spreadsheet
HGVS dbSNP
NM_003383.5(VLDLR):c.*16T>C rs150475109
NM_003383.5(VLDLR):c.*460G>A rs550310153
NM_003383.5(VLDLR):c.*48C>T rs368949453
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.*63C>T rs17848373
NM_003383.5(VLDLR):c.*83C>T rs755339168
NM_003383.5(VLDLR):c.-111C>T rs374367278
NM_003383.5(VLDLR):c.-113C>G rs34433332
NM_003383.5(VLDLR):c.-121C>T rs886063803
NM_003383.5(VLDLR):c.-122T>C rs886063802
NM_003383.5(VLDLR):c.-167dup rs886063801
NM_003383.5(VLDLR):c.-171G>C rs35763266
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.-392C>T rs867729388
NM_003383.5(VLDLR):c.-42_-40GGC[4] rs71329437
NM_003383.5(VLDLR):c.-42_-40GGC[5] rs71329437
NM_003383.5(VLDLR):c.-42_-40GGC[7] rs71329437
NM_003383.5(VLDLR):c.-42_-40GGC[9] rs71329437
NM_003383.5(VLDLR):c.-56_-54del rs886063804
NM_003383.5(VLDLR):c.1066+14T>C rs762128149
NM_003383.5(VLDLR):c.1532A>G (p.Asn511Ser) rs182216426
NM_003383.5(VLDLR):c.1643A>G (p.Lys548Arg) rs148487944
NM_003383.5(VLDLR):c.1703+10C>G rs372047946
NM_003383.5(VLDLR):c.1755A>C (p.Gly585=) rs372963310
NM_003383.5(VLDLR):c.1791G>A (p.Ala597=) rs115773578
NM_003383.5(VLDLR):c.1838G>A (p.Arg613His) rs35948251
NM_003383.5(VLDLR):c.1901G>A (p.Arg634His) rs35339834
NM_003383.5(VLDLR):c.1966C>T (p.Arg656Cys) rs754226022
NM_003383.5(VLDLR):c.2041C>T (p.Leu681=) rs79720897
NM_003383.5(VLDLR):c.2103A>C (p.Ser701=) rs886063811
NM_003383.5(VLDLR):c.2546T>C (p.Ile849Thr) rs116082439
NM_003383.5(VLDLR):c.449-12C>T rs73640152
NM_003383.5(VLDLR):c.505A>G (p.Arg169Gly) rs777739092
NM_003383.5(VLDLR):c.540C>T (p.Ser180=) rs367872112
NM_003383.5(VLDLR):c.582C>T (p.Gly194=) rs148012674
NM_003383.5(VLDLR):c.692G>A (p.Arg231His) rs767529669
NM_003383.5(VLDLR):c.71C>A (p.Ala24Asp) rs754340855
NM_003383.5(VLDLR):c.732C>G (p.Ile244Met) rs145995735
NM_003383.5(VLDLR):c.792C>T (p.Cys264=) rs141850403
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.