ClinVar Miner

List of variants reported as likely benign for cerebellar ataxia, intellectual disability, and dysequilibrium by Illumina Laboratory Services, Illumina

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_003383.5(VLDLR):c.944-5T>C rs35782329 0.03136
NM_003383.5(VLDLR):c.*534T>C rs10967349 0.00619
NM_003383.5(VLDLR):c.-171G>C rs35763266 0.00593
NM_003383.5(VLDLR):c.2291C>T (p.Thr764Met) rs56737058 0.00223
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.468C>T (p.Pro156=) rs2242105 0.00058
NM_003383.5(VLDLR):c.71C>A (p.Ala24Asp) rs754340855 0.00046
NM_003383.5(VLDLR):c.954C>T (p.Cys318=) rs373943845 0.00026
NM_003383.5(VLDLR):c.738C>T (p.Cys246=) rs116687040 0.00020

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