ClinVar Miner

List of variants in gene combination ATM, C11orf65 reported by Blueprint Genetics

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Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys) rs139770721 0.00001
NM_000051.4(ATM):c.6997dup rs587781299 0.00001
NM_000051.4(ATM):c.6348-9A>T rs1591099349
NM_000051.4(ATM):c.8084G>C (p.Gly2695Ala) rs1060501680

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