ClinVar Miner

List of variants in gene ATM reported by German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.1986T>C (p.Phe662=) rs1800055 0.00046
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His) rs201666889 0.00029
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr) rs35963548 0.00026
NM_000051.4(ATM):c.2495G>A (p.Arg832His) rs199875915 0.00019
NM_000051.4(ATM):c.3806A>G (p.Lys1269Arg) rs146017595 0.00012
NM_000051.4(ATM):c.5185G>C (p.Val1729Leu) rs3092907 0.00011
NM_000051.4(ATM):c.2149C>T (p.Arg717Trp) rs147515380 0.00006
NM_000051.4(ATM):c.4724G>A (p.Arg1575His) rs550552791 0.00004
NM_000051.4(ATM):c.2005T>C (p.Cys669Arg) rs587782141 0.00003
NM_000051.4(ATM):c.3371A>T (p.Tyr1124Phe) rs876660498 0.00002
NM_000051.4(ATM):c.4626G>A (p.Leu1542=) rs786202784 0.00002
NM_000051.4(ATM):c.2074C>T (p.Arg692Cys) rs765965513 0.00001
NM_000051.4(ATM):c.2377-6T>A rs876660963 0.00001
NM_000051.4(ATM):c.3077+8C>G rs752601608 0.00001
NM_000051.4(ATM):c.4910-16A>T rs866500582 0.00001
NM_000051.4(ATM):c.1158GAA[1] (p.Lys388del)
NM_000051.4(ATM):c.1825G>A (p.Glu609Lys) rs779780896
NM_000051.4(ATM):c.2377-2A>G rs1057516553
NM_000051.4(ATM):c.2922C>T (p.Ser974=) rs758045139
NM_000051.4(ATM):c.3078G>T (p.Trp1026Cys) rs876660869
NM_000051.4(ATM):c.4236+2T>C rs1229926683
NM_000051.4(ATM):c.434T>G (p.Leu145Arg) rs1555059346
NM_000051.4(ATM):c.4612-2A>C rs1555100347
NM_000051.4(ATM):c.496+5G>A rs796051858
NM_000051.4(ATM):c.5497-2A>C rs786203796

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