ClinVar Miner

List of variants reported as likely benign for Fanconi anemia by Counsyl

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317 0.00653
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys) rs4988345 0.00363
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr) rs61758784 0.00349
NM_000135.4(FANCA):c.2216C>T (p.Pro739Leu) rs45441106 0.00341
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365 0.00275
NM_032043.3(BRIP1):c.2097+7G>A rs4988352 0.00271
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser) rs147241704 0.00207
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro) rs4988347 0.00197
NM_032043.3(BRIP1):c.2937A>G (p.Lys979=) rs75091137 0.00194
NM_032043.3(BRIP1):c.2286T>C (p.Arg762=) rs61754141 0.00173
NM_032043.3(BRIP1):c.2061G>C (p.Val687=) rs112414873 0.00153
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg) rs28997570 0.00113
NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp) rs28997569 0.00104
NM_032043.3(BRIP1):c.195A>G (p.Gln65=) rs141436143 0.00076
NM_032043.3(BRIP1):c.3459T>C (p.Asp1153=) rs4987050 0.00069
NM_032043.3(BRIP1):c.1935+11G>A rs79121306 0.00051
NM_058216.3(RAD51C):c.706-18T>C rs56401264 0.00047
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val) rs138417003 0.00041
NM_058216.3(RAD51C):c.571+16A>G rs141621051 0.00034
NM_058216.3(RAD51C):c.145+12T>G rs377297129 0.00024
NM_032043.3(BRIP1):c.852C>T (p.Val284=) rs144940449 0.00021
NM_032043.3(BRIP1):c.36G>T (p.Gly12=) rs45566938 0.00019
NM_032043.3(BRIP1):c.1890A>G (p.Thr630=) rs145796331 0.00017
NM_001113525.2(ZNF276):c.*1674G>C rs56216970 0.00016
NM_032043.3(BRIP1):c.595C>T (p.Leu199=) rs144969738 0.00014
NM_032043.3(BRIP1):c.3099T>C (p.Pro1033=) rs202228407 0.00013
NM_032043.3(BRIP1):c.93+15G>A rs113052745 0.00009
NM_032043.3(BRIP1):c.1629-11T>C rs375710640 0.00007
NM_032043.3(BRIP1):c.3336T>C (p.Asp1112=) rs369843642 0.00007
NM_000136.3(FANCC):c.1329+238C>T rs768988593 0.00006
NM_032043.3(BRIP1):c.1140+11G>A rs369153270 0.00006
NM_032043.3(BRIP1):c.2232C>T (p.Asp744=) rs374362388 0.00006
NM_058216.3(RAD51C):c.336G>A (p.Gly112=) rs746122031 0.00006
NM_032043.3(BRIP1):c.297C>T (p.Asp99=) rs201617644 0.00004
NM_032043.3(BRIP1):c.3051G>A (p.Pro1017=) rs776990704 0.00004
NM_032043.3(BRIP1):c.312T>G (p.Thr104=) rs769190318 0.00003
NM_032043.3(BRIP1):c.702G>A (p.Lys234=) rs45512798 0.00003
NM_058216.3(RAD51C):c.706-13C>G rs747406535 0.00003
NM_058216.3(RAD51C):c.837+14A>G rs1057517644 0.00002
NM_000135.4(FANCA):c.3357C>T (p.Phe1119=) rs878853664 0.00001
NM_032043.2(BRIP1):c.2097+8A>C rs730881642 0.00001
NM_032043.3(BRIP1):c.1455T>C (p.Ala485=) rs773489367 0.00001
NM_032043.3(BRIP1):c.1795-9T>G rs777006706 0.00001
NM_032043.3(BRIP1):c.612C>G (p.Ser204=) rs587780832 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.905-7C>T rs757624360 0.00001
NM_000136.3(FANCC):c.1329+181_1329+183del rs587778328
NM_000136.3(FANCC):c.1329+246del rs542091036
NM_000136.3(FANCC):c.1533+9C>T rs863224323
NM_032043.3(BRIP1):c.1629-500G>A rs1057517645
NM_032043.3(BRIP1):c.1935+5GTT[2] rs730881641
NM_032043.3(BRIP1):c.2576-17T>G rs1057517647
NM_032043.3(BRIP1):c.2991A>G (p.Thr997=) rs45466996
NM_032043.3(BRIP1):c.380-17dup rs545021924
NM_058216.3(RAD51C):c.146-15T>C rs1036386535
NM_058216.3(RAD51C):c.756A>G (p.Leu252=) rs863224437

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