ClinVar Miner

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

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Total variants: 17
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HGVS dbSNP
NM_002878.3(RAD51D):c.263+1G>A rs1555570242
NM_002878.3(RAD51D):c.264-2A>C rs1555568514
NM_002878.3(RAD51D):c.335G>C (p.Gly112Ala) rs587782848
NM_002878.3(RAD51D):c.345+2T>C rs876659394
NM_002878.3(RAD51D):c.346-1G>C rs1555568386
NM_002878.3(RAD51D):c.473_480+1del rs786202819
NM_002878.3(RAD51D):c.577-2A>G rs1555567649
NM_002878.3(RAD51D):c.620C>G (p.Ser207Trp) rs370228071
NM_002878.3(RAD51D):c.620C>T (p.Ser207Leu) rs370228071
NM_002878.3(RAD51D):c.623dup (p.Thr209fs) rs1555567610
NM_002878.3(RAD51D):c.738G>A (p.Val246=) rs1210620444
NM_002878.3(RAD51D):c.739-1G>A rs1555567202
NM_002878.3(RAD51D):c.772_778del (p.Gly258fs) rs1064795045
NM_002878.3(RAD51D):c.82+1G>A rs786202788
NM_002878.3(RAD51D):c.898C>T (p.Arg300Ter) rs750621215
NM_002878.3(RAD51D):c.898del (p.Arg300fs) rs786202251
NM_002878.3(RAD51D):c.904-2A>T rs1403784434

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