ClinVar Miner

List of variants reported as benign for ataxia telangiectasia by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.4578C>T (p.Pro1526=) rs1800889 0.03196
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro) rs4986761 0.00782

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