ClinVar Miner

List of variants reported as pathogenic for ataxia telangiectasia by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (6):

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_000051.4(ATM):c.7913G>A (p.Trp2638Ter)	rs377349459	0.00006
NM_000051.4(ATM):c.6273del (p.Trp2091fs)	rs1565503137

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