ClinVar Miner

List of variants in gene combination ATM, C11orf65 reported as benign for Hereditary breast ovarian cancer syndrome

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.8850+60A>G rs664143 0.61921
NM_000051.4(ATM):c.6095+15T>C rs3212321 0.01395
NM_000051.4(ATM):c.6572+12G>T rs3218677 0.01112
NM_000051.4(ATM):c.8419-19A>G rs12279930 0.00824
NM_000051.4(ATM):c.6995T>C (p.Leu2332Pro) rs4988111 0.00660
NM_000051.4(ATM):c.6235G>A (p.Val2079Ile) rs1800060 0.00649
NM_000051.4(ATM):c.*44A>G rs55900855 0.00643
NM_000051.4(ATM):c.5793T>C (p.Ala1931=) rs3092910 0.00608
NM_000051.4(ATM):c.*29C>G rs3218711 0.00603
NM_000051.4(ATM):c.7630-17T>C rs116047570 0.00268
NM_000051.4(ATM):c.8269-14A>T rs114320959 0.00195
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val) rs148432863 0.00075
NM_000051.4(ATM):c.7928-73G>A rs149047841 0.00056
NM_000051.4(ATM):c.7988T>C (p.Val2663Ala) rs377648506 0.00010
NM_000051.4(ATM):c.6808-72ATT[4] rs3212322
NM_000051.4(ATM):c.8010+30dup rs3218702
NM_000051.4(ATM):c.8787-55C>T rs664982

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