ClinVar Miner

List of variants studied for Fanconi anemia complementation group O by Mendelics

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317 0.00653
NM_058216.3(RAD51C):c.572-17G>T rs193023469 0.00513
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr) rs61758784 0.00349
NM_058216.3(RAD51C):c.146-8A>G rs201079501 0.00074
NM_058216.3(RAD51C):c.145+12T>G rs377297129 0.00024
NC_000017.11:g.58692541G>A rs545213879 0.00021
NM_058216.3(RAD51C):c.784T>G (p.Leu262Val) rs149331537 0.00014
NM_058216.3(RAD51C):c.1026+43C>T rs750859385 0.00002
NM_058216.3(RAD51C):c.146-3C>T rs765143155 0.00002
NM_058216.3(RAD51C):c.773G>A (p.Arg258His) rs267606997 0.00002
NM_058216.3(RAD51C):c.-2C>T rs876658796 0.00001
NM_058216.3(RAD51C):c.141C>T (p.Ser47=) rs568912602 0.00001
NM_058216.3(RAD51C):c.145+11C>G rs1263551026 0.00001
NM_058216.3(RAD51C):c.3G>A (p.Met1Ile) rs769053886 0.00001
NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter) rs770637624 0.00001
NM_058216.3(RAD51C):c.1000del (p.Glu334fs) rs1567817415
NM_058216.3(RAD51C):c.115C>T (p.Leu39=) rs759149207
NM_058216.3(RAD51C):c.145+15T>C rs780116924
NM_058216.3(RAD51C):c.16T>G (p.Phe6Val) rs749498443
NM_058216.3(RAD51C):c.262C>T (p.Leu88=) rs786201383
NM_058216.3(RAD51C):c.461A>G (p.Glu154Gly) rs758847241
NM_058216.3(RAD51C):c.837+2T>C rs1567799943
NM_058216.3(RAD51C):c.853C>T (p.Gln285Ter) rs1598504016
NM_058216.3(RAD51C):c.890_899del (p.Leu297fs) rs1555602141
NM_058216.3(RAD51C):c.912T>G (p.Ser304Arg) rs876659009

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