ClinVar Miner

List of variants in gene combination ATM, C11orf65 reported by Center of Genomic medicine, Geneva, University Hospital of Geneva

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.8560C>T (p.Arg2854Cys) rs201958469 0.00013
NM_000051.4(ATM):c.8264_8268del (p.Tyr2755fs) rs730881294 0.00003
NM_000051.4(ATM):c.6047A>G (p.Asp2016Gly) rs587781302
NM_000051.4(ATM):c.6385T>G (p.Tyr2129Asp) rs876658542
NM_000051.4(ATM):c.7517_7520del rs587781905

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