ClinVar Miner

List of variants in gene combination RAD51D, RAD51L3-RFFL reported as likely pathogenic by Invitae

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Total variants: 21
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HGVS dbSNP
NC_000017.10:g.(?_33427962)_(33428065_?)del
NC_000017.10:g.(?_33427966)_(33428061_?)del
NM_002878.3(RAD51D):c.131_144+24del rs1064795716
NM_002878.3(RAD51D):c.144+1_144+11delinsCC rs1555570397
NM_002878.3(RAD51D):c.263+2T>C rs200564819
NM_002878.3(RAD51D):c.345+2T>C rs876659394
NM_002878.3(RAD51D):c.576+1G>T
NM_002878.3(RAD51D):c.620C>T (p.Ser207Leu) rs370228071
NM_002878.3(RAD51D):c.668-2A>C rs1567726325
NM_002878.3(RAD51D):c.728dup (p.Met243fs) rs1060502958
NM_002878.3(RAD51D):c.738+1G>A rs1567726124
NM_002878.3(RAD51D):c.739-1G>A rs1555567202
NM_002878.3(RAD51D):c.739-?_*1161del
NM_002878.3(RAD51D):c.752del (p.Ile251fs)
NM_002878.3(RAD51D):c.766del (p.Asp256fs)
NM_002878.3(RAD51D):c.772_778del (p.Gly258fs) rs1064795045
NM_002878.3(RAD51D):c.854del (p.Gly285fs)
NM_002878.3(RAD51D):c.898C>T (p.Arg300Ter) rs750621215
NM_002878.3(RAD51D):c.898del (p.Arg300fs) rs786202251
NM_002878.3(RAD51D):c.901C>T (p.Gln301Ter) rs1060502959
NM_002878.3(RAD51D):c.904-2A>T rs1403784434

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