ClinVar Miner

List of variants studied for ataxia telangiectasia by Institute of Immunology and Genetics Kaiserslautern

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.5932G>T (p.Glu1978Ter) rs587779852 0.00004
NM_000051.4(ATM):c.4505G>T (p.Cys1502Phe) rs759340881 0.00003

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