ClinVar Miner

List of variants in gene ATM reported as pathogenic by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 11q22.3(chr11:108233807-108245056)x1
NM_000051.4(ATM):c.2921+1G>A rs587781558
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer) rs587779834
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer) rs587781831
NM_000051.4(ATM):c.5177+1G>C rs1131691159
NM_000051.4(ATM):c.5650_5657del (p.Thr1884fs) rs1591718522

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