ClinVar Miner

List of variants reported as benign for cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 by Genome-Nilou Lab

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_003383.5(VLDLR):c.82+7G>A rs2219143 0.31539
NM_003383.5(VLDLR):c.2416+8G>T rs6145 0.23708
NM_003383.5(VLDLR):c.1313-17A>T rs6144 0.19150
NM_003383.5(VLDLR):c.1066+43C>T rs10967320 0.18162
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.-42GGC[9] rs71329437

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