ClinVar Miner

List of variants in gene ATM reported by Kariminejad - Najmabadi Pathology & Genetics Center

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.1369C>T (p.Arg457Ter) rs749036865 0.00001
NM_000051.4(ATM):c.4852C>T (p.Arg1618Ter) rs762083530 0.00001
NM_000051.4(ATM):c.829G>T (p.Glu277Ter) rs876660933 0.00001
NM_000051.4(ATM):c.1464G>A (p.Trp488Ter) rs377597949
NM_000051.4(ATM):c.3244_3245insG (p.His1082fs) rs761486324
NM_000051.4(ATM):c.4572del (p.Ile1525fs) rs2135801606

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