ClinVar Miner

List of variants reported as pathogenic for ataxia telangiectasia by Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.6658C>T (p.Gln2220Ter) rs1060501536 0.00001
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.1537C>T (p.Gln513Ter) rs865985297
NM_000051.4(ATM):c.2921+1G>T rs587781558
NM_000051.4(ATM):c.4864G>T (p.Glu1622Ter)
NM_000051.4(ATM):c.5712dup (p.Ser1905fs) rs587781730
NM_000051.4(ATM):c.7940_7970del (p.Ile2647fs) rs2136611559
NM_000051.4(ATM):c.8050C>T (p.Gln2684Ter) rs1555127102

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