ClinVar Miner

List of variants in gene combination ATM, C11orf65 reported as pathogenic for Cerebellar ataxia; Seizure

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_000051.4(ATM):c.6867dup (p.Glu2290Ter)	rs1555119834

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