ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences and "likely pathogenic" from any submitter

Minimum review status of the submission from Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences: Collection method of the submission from Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 3
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.829G>T (p.Glu277Ter) rs876660933 0.00001
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys) rs587779872 0.00001
NM_000051.4(ATM):c.5712dup (p.Ser1905fs) rs587781730

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