ClinVar Miner

List of variants reported as likely pathogenic for Fanconi anemia by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 96
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HGVS dbSNP gnomAD frequency
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer) rs747253294 0.00034
NM_001018115.3(FANCD2):c.1279-2A>G rs748006255 0.00008
NM_001018115.3(FANCD2):c.2380C>T (p.Arg794Ter) rs755350165 0.00004
NM_001113378.2(FANCI):c.3622_3623del (p.Leu1208fs) rs1491132258 0.00003
NM_024675.4(PALB2):c.2730T>A (p.Tyr910Ter) rs995629797 0.00003
NM_032444.4(SLX4):c.4089_4090del (p.Asp1365fs) rs748930384 0.00003
NM_000135.4(FANCA):c.1777-1G>C rs755104393 0.00002
NM_001113378.2(FANCI):c.1804C>T (p.Arg602Ter) rs1432325198 0.00002
NM_001113378.2(FANCI):c.3676dup (p.Thr1226fs) rs773847168 0.00002
NM_024675.4(PALB2):c.212-2A>G rs730881879 0.00002
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013 0.00001
NM_000135.4(FANCA):c.1226-2A>G rs773906241 0.00001
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro) rs780825099 0.00001
NM_000135.4(FANCA):c.2738A>C (p.His913Pro) rs1302083447 0.00001
NM_000135.4(FANCA):c.3634dup (p.Ser1212fs) rs1374769712 0.00001
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys) rs745882980 0.00001
NM_000135.4(FANCA):c.580C>T (p.Gln194Ter) rs1384166265 0.00001
NM_000136.3(FANCC):c.1309C>T (p.Gln437Ter) rs944083227 0.00001
NM_000136.3(FANCC):c.339G>A (p.Trp113Ter) rs1057516291 0.00001
NM_000136.3(FANCC):c.522-1G>C rs1014112491 0.00001
NM_000136.3(FANCC):c.996+1G>T rs370510954 0.00001
NM_001113378.2(FANCI):c.2568_2569del (p.Gly857fs) rs1385885533 0.00001
NM_004629.2(FANCG):c.1589_1591del (p.Asp530_Thr531delinsAla) rs767443643 0.00001
NM_004629.2(FANCG):c.976G>T (p.Glu326Ter) rs754484649 0.00001
NM_018062.4(FANCL):c.273+1G>C rs144729980 0.00001
NM_021922.3(FANCE):c.1114-8G>A rs878854342 0.00001
NM_032444.4(SLX4):c.2469G>A (p.Trp823Ter) rs1267428175 0.00001
NM_032444.4(SLX4):c.3895_3896del (p.Arg1299fs) rs763914156 0.00001
NM_032444.4(SLX4):c.860del (p.Ser287fs) rs752720263 0.00001
NM_058216.3(RAD51C):c.404+2T>C rs730881931 0.00001
NM_058216.3(RAD51C):c.414G>C (p.Leu138Phe) rs267606999 0.00001
NM_000059.4(BRCA2):c.15del (p.Glu7fs) rs1064795072
NM_000059.4(BRCA2):c.1889del (p.Thr630fs) rs80359315
NM_000059.4(BRCA2):c.574_575del (p.Met192fs) rs80359533
NM_000135.4(FANCA):c.1034_1035del (p.Glu345fs) rs769580546
NM_000135.4(FANCA):c.11C>A (p.Ser4Ter) rs1484087361
NM_000135.4(FANCA):c.1292dup (p.Leu432fs) rs1416639878
NM_000135.4(FANCA):c.1294del (p.Leu432fs) rs1211579979
NM_000135.4(FANCA):c.1470+2T>C rs2039844134
NM_000135.4(FANCA):c.1715+1G>T rs1555552506
NM_000135.4(FANCA):c.1809dup (p.Ile604fs) rs1343140664
NM_000135.4(FANCA):c.1844dup (p.Ser616fs) rs779375100
NM_000135.4(FANCA):c.1850_1859del (p.Leu617fs) rs2143393148
NM_000135.4(FANCA):c.1901-2A>G rs1555549535
NM_000135.4(FANCA):c.1A>T (p.Met1Leu) rs772751654
NM_000135.4(FANCA):c.2001dup (p.Ser668fs) rs2143366568
NM_000135.4(FANCA):c.2151+1dup rs777971510
NM_000135.4(FANCA):c.2164CTG[1] (p.Leu723del) rs1567618907
NM_000135.4(FANCA):c.2316+1_2316+3del rs2039275264
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp) rs755546887
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp) rs753063086
NM_000135.4(FANCA):c.3500T>A (p.Leu1167Ter) rs2038398856
NM_000135.4(FANCA):c.3791_3793del (p.Ser1264del) rs1183256870
NM_000135.4(FANCA):c.3884T>G (p.Leu1295Ter) rs986710868
NM_000135.4(FANCA):c.4010+1_4010+18del rs752457319
NM_000135.4(FANCA):c.4261-2A>G rs915983602
NM_000135.4(FANCA):c.916_917del (p.Thr306fs) rs764122657
NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter) rs759900071
NM_000136.3(FANCC):c.12_14delinsAAGATCAA (p.Asp4fs) rs1588353886
NM_000136.3(FANCC):c.284_293del (p.Cys95fs) rs2136049324
NM_000136.3(FANCC):c.460del (p.Val154fs) rs1825653076
NM_000136.3(FANCC):c.489_490del (p.Asn164fs) rs730881708
NM_000136.3(FANCC):c.996G>A (p.Gln332=) rs1825770865
NM_001018115.3(FANCD2):c.1866_1867delinsAT (p.Gln623Ter) rs2125032674
NM_001018115.3(FANCD2):c.230del (p.Lys77fs) rs770835633
NM_001018115.3(FANCD2):c.2605+2dup rs2125048104
NM_001018115.3(FANCD2):c.2845G>T (p.Glu949Ter) rs762724830
NM_001018115.3(FANCD2):c.302_303del (p.Glu101fs) rs2124975164
NM_001018115.3(FANCD2):c.3095del (p.Asn1032fs) rs1559399574
NM_001018115.3(FANCD2):c.3224+1G>T rs1468320596
NM_001018115.3(FANCD2):c.64+2T>G rs2124961184
NM_001018115.3(FANCD2):c.707_708del (p.Ile236fs) rs2086865775
NM_001018115.3(FANCD2):c.92del (p.Lys31fs) rs1378830983
NM_001113378.2(FANCI):c.2858dup (p.Arg954fs) rs2054482551
NM_001113378.2(FANCI):c.3118_3119del (p.Lys1040fs) rs907106559
NM_001113378.2(FANCI):c.3119del (p.Lys1040fs) rs1596324325
NM_001113378.2(FANCI):c.3895C>T (p.Arg1299Ter) rs551305056
NM_001113378.2(FANCI):c.998C>A (p.Ser333Ter) rs761982725
NM_004629.2(FANCG):c.115C>T (p.Arg39Ter) rs1384748892
NM_004629.2(FANCG):c.85-1G>A rs1052044702
NM_007294.4(BRCA1):c.287A>G (p.Asp96Gly) rs864622444
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe) rs80357104
NM_018062.4(FANCL):c.40del (p.Leu14fs) rs761039364
NM_021922.3(FANCE):c.421C>T (p.Arg141Ter) rs121434506
NM_024675.4(PALB2):c.2430_2431del (p.Pro811fs) rs1555460334
NM_024675.4(PALB2):c.2727_2728del (p.Thr911fs) rs730881869
NM_024675.4(PALB2):c.2878del (p.Leu960fs) rs1064795824
NM_032043.3(BRIP1):c.1702_1703del (p.Asn568fs) rs1057519365
NM_032043.3(BRIP1):c.2114_2118del (p.Lys705fs) rs864622611
NM_032043.3(BRIP1):c.508-1G>T rs864622277
NM_032043.3(BRIP1):c.903del (p.Leu301fs) rs876659490
NM_058216.3(RAD51C):c.146-2A>G rs1555593457
NM_058216.3(RAD51C):c.250A>T (p.Lys84Ter) rs1555593616
NM_058216.3(RAD51C):c.405-1G>C rs587782036
NM_058216.3(RAD51C):c.705+1G>A rs876658644
NM_058216.3(RAD51C):c.706-2A>C rs587780259

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