ClinVar Miner

List of variants in gene VLDLR reported as benign for cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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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.2416+8G>T rs6145 0.24562
NM_003383.5(VLDLR):c.1313-17A>T rs6144 0.19776
NM_003383.5(VLDLR):c.1066+43C>T rs10967320 0.18162
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.1312+27G>A rs11793899 0.14831
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.449-12C>T rs73640152 0.00648
NM_003383.5(VLDLR):c.2041C>T (p.Leu681=) rs79720897 0.00518
NM_003383.5(VLDLR):c.-113C>G rs34433332
NM_003383.5(VLDLR):c.-42GGC[9] rs71329437

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