ClinVar Miner

List of variants in gene combination ATM, C11orf65 reported as likely pathogenic by Integrated Genetics/Laboratory Corporation of America

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Gene type:
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Total variants: 5
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HGVS dbSNP
NM_000051.3(ATM):c.6095+1G>A rs587781584
NM_000051.3(ATM):c.6280G>T (p.Glu2094Ter) rs1565503182
NM_000051.3(ATM):c.7858del (p.Val2620fs) rs1555125349
NM_000051.3(ATM):c.8293G>A (p.Gly2765Ser) rs748634900
NM_000051.3(ATM):c.8549T>A (p.Leu2850Ter) rs876658716

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