ClinVar Miner

List of variants in gene combination ATM, C11orf65 reported as likely pathogenic for Breast and/or ovarian cancer

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00005
NM_000051.4(ATM):c.5763-1050A>G rs774925473 0.00004
NM_000051.4(ATM):c.7630-2A>C rs587779866 0.00001
NM_000051.4(ATM):c.8584+2T>C rs730881326 0.00001
NM_000051.4(ATM):c.5866_5870del (p.Leu1956fs) rs2547029192
NM_000051.4(ATM):c.6040G>T (p.Glu2014Ter) rs375783941
NM_000051.4(ATM):c.6115G>A (p.Glu2039Lys) rs864622251
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp) rs397514577
NM_000051.4(ATM):c.6372C>G (p.Tyr2124Ter) rs904589402
NM_000051.4(ATM):c.7141_7151del (p.Asn2381fs) rs1555122030
NM_000051.4(ATM):c.7789-3T>G rs864622185
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn) rs587782719
NM_000051.4(ATM):c.8644_8647del (p.Ser2882fs) rs2137083265
NM_000051.4(ATM):c.9061G>T (p.Glu3021Ter) rs2091244384

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