ClinVar Miner

List of variants studied for ataxia telangiectasia by Mayo Clinic Laboratories, Mayo Clinic

Included ClinVar conditions (6):

Ataxia-telangiectasia syndrome
Ataxia-telangiectasia syndrome; Breast cancer, susceptibility to
Ataxia-telangiectasia syndrome; Hereditary cancer
Ataxia-telangiectasia syndrome; Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome; Malignant tumor of breast
Familial cancer of breast; Ataxia-telangiectasia syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys)	rs587779872	0.00001

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