ClinVar Miner

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

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_002878.4(RAD51D):c.576+1G>A rs781161543 0.00002
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu) rs370228071 0.00002
NM_002878.4(RAD51D):c.898C>T (p.Arg300Ter) rs750621215 0.00002
NM_002878.4(RAD51D):c.739-1G>A rs1555567202 0.00001
NM_002878.4(RAD51D):c.134_144+15del
NM_002878.4(RAD51D):c.141C>A (p.Tyr47Ter) rs771077929
NM_002878.4(RAD51D):c.144+1dup
NM_002878.4(RAD51D):c.211_263+3141del
NM_002878.4(RAD51D):c.264-2A>C rs1555568514
NM_002878.4(RAD51D):c.264-2A>G rs1555568514
NM_002878.4(RAD51D):c.2T>A (p.Met1Lys) rs1064794619
NM_002878.4(RAD51D):c.2del (p.Met1fs)
NM_002878.4(RAD51D):c.335G>C (p.Gly112Ala) rs587782848
NM_002878.4(RAD51D):c.346-1G>C rs1555568386
NM_002878.4(RAD51D):c.486_532del (p.Glu162fs) rs1597861744
NM_002878.4(RAD51D):c.54del (p.Gln18fs)
NM_002878.4(RAD51D):c.577-2A>G rs1555567649
NM_002878.4(RAD51D):c.5del (p.Gly2fs)
NM_002878.4(RAD51D):c.608delinsGA (p.Val203fs) rs1597858862
NM_002878.4(RAD51D):c.620C>G (p.Ser207Trp) rs370228071
NM_002878.4(RAD51D):c.623dup (p.Thr209fs) rs1555567610
NM_002878.4(RAD51D):c.641dup (p.Leu215fs) rs1409088398
NM_002878.4(RAD51D):c.667+1G>T rs1597858666
NM_002878.4(RAD51D):c.668-2A>C rs1567726325
NM_002878.4(RAD51D):c.738+1G>A rs1567726124
NM_002878.4(RAD51D):c.738G>A (p.Val246=) rs1210620444
NM_002878.4(RAD51D):c.739-2A>T rs1597856297
NM_002878.4(RAD51D):c.752del (p.Ile251fs) rs1597856236
NM_002878.4(RAD51D):c.774dup (p.Arg259fs) rs1555567170
NM_002878.4(RAD51D):c.801del (p.Trp268fs) rs2142411904
NM_002878.4(RAD51D):c.808_857del (p.Phe270fs)
NM_002878.4(RAD51D):c.82+1G>A rs786202788
NM_002878.4(RAD51D):c.82+2T>G rs1597878498
NM_002878.4(RAD51D):c.898del (p.Arg300fs) rs786202251
NM_002878.4(RAD51D):c.901C>T (p.Gln301Ter) rs1060502959
NM_002878.4(RAD51D):c.904-2A>C
NM_002878.4(RAD51D):c.904-2A>T rs1403784434

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