ClinVar Miner

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

Included ClinVar conditions (2):
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Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_058216.3(RAD51C):c.90G>A (p.Ala30=) rs115414895 0.01193
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317 0.00653
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr) rs61758784 0.00349
NM_058216.3(RAD51C):c.186A>G (p.Gln62=) rs28363303 0.00322
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser) rs147241704 0.00207
NM_058216.3(RAD51C):c.195A>G (p.Arg65=) rs45511291 0.00105
NM_058216.3(RAD51C):c.146-8A>G rs201079501 0.00074
NM_058216.3(RAD51C):c.706-18T>C rs56401264 0.00047
NM_058216.3(RAD51C):c.571+16A>G rs141621051 0.00034
NM_058216.3(RAD51C):c.922G>T (p.Ala308Ser) rs185057307 0.00025
NM_058216.3(RAD51C):c.145+12T>G rs377297129 0.00024
NM_058216.3(RAD51C):c.640C>T (p.Arg214Cys) rs140804406 0.00017
NM_058216.3(RAD51C):c.890T>C (p.Leu297Pro) rs143026267 0.00017
NM_058216.3(RAD51C):c.784T>G (p.Leu262Val) rs149331537 0.00014
NM_058216.3(RAD51C):c.431T>C (p.Ile144Thr) rs28363307 0.00010
NM_058216.3(RAD51C):c.506T>C (p.Val169Ala) rs587780256 0.00009
NM_058216.3(RAD51C):c.134A>G (p.Glu45Gly) rs587781383 0.00006
NM_058216.3(RAD51C):c.14C>T (p.Thr5Met) rs201523760 0.00006
NM_058216.3(RAD51C):c.336G>A (p.Gly112=) rs746122031 0.00006
NM_058216.3(RAD51C):c.428A>G (p.Gln143Arg) rs587780255 0.00006
NM_058216.3(RAD51C):c.492T>G (p.Phe164Leu) rs573992101 0.00006
NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter) rs200293302 0.00004
NM_058216.3(RAD51C):c.635G>A (p.Arg212His) rs200857129 0.00004
NM_058216.3(RAD51C):c.774del (p.Thr259fs) rs754367349 0.00004
NM_058216.3(RAD51C):c.1102C>T (p.Arg368Trp) rs587780253 0.00003
NM_058216.3(RAD51C):c.706-13C>G rs747406535 0.00003
NM_058216.3(RAD51C):c.77A>T (p.Lys26Met) rs746026526 0.00003
NM_058216.3(RAD51C):c.224dup (p.Tyr75Ter) rs730881939 0.00002
NM_058216.3(RAD51C):c.537C>A (p.His179Gln) rs372385738 0.00002
NM_058216.3(RAD51C):c.706-2A>G rs587780259 0.00002
NM_058216.3(RAD51C):c.719T>C (p.Ile240Thr) rs539341386 0.00002
NM_058216.3(RAD51C):c.746G>A (p.Arg249His) rs730881925 0.00002
NM_058216.3(RAD51C):c.837+14A>G rs1057517644 0.00002
NM_058216.3(RAD51C):c.1109G>A (p.Arg370Gln) rs373170458 0.00001
NM_058216.3(RAD51C):c.141C>T (p.Ser47=) rs568912602 0.00001
NM_058216.3(RAD51C):c.234A>G (p.Thr78=) rs730881929 0.00001
NM_058216.3(RAD51C):c.379C>A (p.Pro127Thr) rs587782222 0.00001
NM_058216.3(RAD51C):c.414G>C (p.Leu138Phe) rs267606999 0.00001
NM_058216.3(RAD51C):c.497T>C (p.Val166Ala) rs765300465 0.00001
NM_058216.3(RAD51C):c.571+4A>G rs587780257 0.00001
NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter) rs770637624 0.00001
NM_058216.3(RAD51C):c.772C>T (p.Arg258Cys) rs587782474 0.00001
NM_058216.3(RAD51C):c.905-2_905-1del rs587781995 0.00001
NM_058216.3(RAD51C):c.905-7C>T rs757624360 0.00001
NM_058216.3(RAD51C):c.914G>A (p.Trp305Ter) rs876659874 0.00001
NM_058216.3(RAD51C):c.97C>T (p.Gln33Ter) rs587782528 0.00001
NM_058216.3(RAD51C):c.1026+5_1026+7del rs587781410
NM_058216.3(RAD51C):c.115C>G (p.Leu39Val) rs759149207
NM_058216.3(RAD51C):c.145+2T>G rs1057517641
NM_058216.3(RAD51C):c.146-15T>C rs1036386535
NM_058216.3(RAD51C):c.271C>T (p.Leu91Phe) rs1555593653
NM_058216.3(RAD51C):c.317C>T (p.Ala106Val) rs1060502594
NM_058216.3(RAD51C):c.397C>T (p.Gln133Ter) rs387907159
NM_058216.3(RAD51C):c.405-1G>C rs587782036
NM_058216.3(RAD51C):c.459T>G (p.Gly153=) rs769486350
NM_058216.3(RAD51C):c.4C>G (p.Arg2Gly) rs758029117
NM_058216.3(RAD51C):c.520A>G (p.Thr174Ala) rs864622278
NM_058216.3(RAD51C):c.724G>A (p.Asp242Asn) rs876659188
NM_058216.3(RAD51C):c.732del (p.Ile244fs) rs1060502601
NM_058216.3(RAD51C):c.756A>G (p.Leu252=) rs863224437
NM_058216.3(RAD51C):c.837+1G>T rs760235677
NM_058216.3(RAD51C):c.862A>G (p.Thr288Ala) rs587781574
NM_058216.3(RAD51C):c.93del (p.Phe32fs) rs730881942

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