ClinVar Miner

List of variants in gene combination ATM, C11orf65 reported by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg) rs11212587 0.00124
NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg) rs56399857 0.00019
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
NM_000051.4(ATM):c.5882A>G (p.Tyr1961Cys) rs56399311 0.00001
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys) rs139770721 0.00001
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys) rs202206540 0.00001
NM_000051.4(ATM):c.7630-2A>C rs587779866 0.00001
NM_000051.4(ATM):c.8965C>G (p.Gln2989Glu) rs147695170 0.00001
NM_000051.4(ATM):c.5866C>T (p.Leu1956Phe) rs1565489956
NM_000051.4(ATM):c.6758A>G (p.Lys2253Arg) rs786203332
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter) rs121434220
NM_000051.4(ATM):c.7517_7520del rs587781905
NM_000051.4(ATM):c.8418+5_8418+8del rs730881295
NM_000051.4(ATM):c.8441A>G (p.Glu2814Gly)
NM_000051.4(ATM):c.8793T>A (p.Cys2931Ter) rs1555143494
NM_000051.4(ATM):c.9021A>C (p.Glu3007Asp) rs1565608897
NM_000051.4(ATM):c.9152G>A (p.Gly3051Glu) rs1555152073

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