ClinVar Miner

List of variants in gene combination RAD51D, RAD51L3-RFFL reported as pathogenic by Quest Diagnostics Nichols Institute San Juan Capistrano

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_002878.4(RAD51D):c.694C>T (p.Arg232Ter) rs587780104 0.00004
NM_002878.4(RAD51D):c.556C>T (p.Arg186Ter) rs387906843 0.00003
NM_002878.4(RAD51D):c.363del (p.Ala122fs) rs730881935 0.00002
NM_002878.4(RAD51D):c.451C>T (p.Gln151Ter) rs587781756 0.00002
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu) rs370228071 0.00002
NM_002878.4(RAD51D):c.803G>A (p.Trp268Ter) rs750219200 0.00001
NM_002878.4(RAD51D):c.326dup (p.Gly110fs) rs730882119
NM_002878.4(RAD51D):c.547C>T (p.Gln183Ter) rs587782695
NM_002878.4(RAD51D):c.577-2A>G rs1555567649
NM_002878.4(RAD51D):c.81del (p.Val28fs) rs1064793952
NM_002878.4(RAD51D):c.94_95del (p.Val32fs) rs786203137

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