ClinVar Miner

List of variants studied for Familial cancer of breast by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) rs28904921 0.00006
NM_032043.3(BRIP1):c.751C>T (p.Arg251Cys) rs752309409 0.00004
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter) rs180177132 0.00002
NM_024675.4(PALB2):c.758dup (p.Ser254fs) rs515726126 0.00001
NM_000051.4(ATM):c.3049C>T (p.Gln1017Ter) rs730881388
NM_000051.4(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer) rs587782554
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs) rs786202800
NM_024675.4(PALB2):c.3362del (p.Gly1121fs) rs515726117
NM_024675.4(PALB2):c.757_758del (p.Leu253fs) rs180177092
NM_032043.3(BRIP1):c.2108delinsTCC (p.Lys703fs) rs786203384
NM_032043.3(BRIP1):c.2255_2256del (p.Lys752fs) rs730881649

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