ClinVar Miner

List of variants reported as likely pathogenic for cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 by 3billion

Included ClinVar conditions (2):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_003383.5(VLDLR):c.262dup (p.Arg88fs)	rs2130785730
NM_003383.5(VLDLR):c.325+1del	rs2488718618
NM_003383.5(VLDLR):c.376C>T (p.Gln126Ter)	rs1404412704

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