ClinVar Miner

List of variants studied for Fanconi anemia by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 108
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HGVS dbSNP gnomAD frequency
NM_000136.3(FANCC):c.456+4A>T rs104886456 0.00021
NM_001018115.3(FANCD2):c.2715+1G>A rs201811817 0.00016
NM_000136.3(FANCC):c.553C>T (p.Arg185Ter) rs121917783 0.00011
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457 0.00007
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=) rs149797103 0.00006
NM_000135.4(FANCA):c.1827-1G>A rs555449842 0.00005
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) rs372254398 0.00005
NM_000135.4(FANCA):c.2T>C (p.Met1Thr) rs769479800 0.00004
NM_000136.3(FANCC):c.521+1G>A rs145394391 0.00004
NM_001018115.3(FANCD2):c.2444G>A (p.Arg815Gln) rs766567785 0.00004
NM_032043.3(BRIP1):c.751C>T (p.Arg251Cys) rs752309409 0.00004
NM_000135.4(FANCA):c.4199G>A (p.Arg1400His) rs149851163 0.00003
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter) rs371897078 0.00003
NM_000135.4(FANCA):c.1303C>T (p.Arg435Cys) rs148473140 0.00002
NM_000136.3(FANCC):c.1302dup (p.Gly435fs) rs730881709 0.00002
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro) rs104886458 0.00002
NM_000136.3(FANCC):c.520C>T (p.Arg174Ter) rs781542763 0.00002
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter) rs377294947 0.00002
NM_000136.3(FANCC):c.843+1G>A rs587779909 0.00002
NM_001018115.3(FANCD2):c.3817C>T (p.Arg1273Ter) rs745930696 0.00002
NM_004629.2(FANCG):c.1480+1G>C rs149616199 0.00002
NM_018062.4(FANCL):c.1092G>A (p.Lys364=) rs577063114 0.00002
NM_000059.4(BRCA2):c.4648G>T (p.Glu1550Ter) rs80358695 0.00001
NM_000135.4(FANCA):c.2303T>C (p.Leu768Pro) rs1490352414 0.00001
NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe) rs753700179 0.00001
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys) rs745882980 0.00001
NM_000135.4(FANCA):c.991del (p.Ser331fs) rs746236214 0.00001
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) rs121917784 0.00001
NM_000136.3(FANCC):c.844-1G>C rs774209201 0.00001
NM_000136.3(FANCC):c.996+1G>T rs370510954 0.00001
NM_001018115.3(FANCD2):c.1948-6C>A rs779350241 0.00001
NM_001018115.3(FANCD2):c.782A>T (p.Lys261Met) rs778289599 0.00001
NM_001113378.2(FANCI):c.2568_2569del (p.Gly857fs) rs1385885533 0.00001
NM_018062.4(FANCL):c.2T>C (p.Met1Thr) rs761291501 0.00001
NM_032444.4(SLX4):c.1441C>T (p.Arg481Ter) rs1265030199 0.00001
NC_000003.11:g.(10132070_10133864)_(10136048_10136883)del
NC_000003.11:g.(?_10068070)_(10070406_10074515)del
NC_000003.11:g.(?_10068070)_(10094182_10101977)del
NC_000009.11:g.(97864133_97869347)_(97869552_97873744)del
NC_000009.11:g.(97873920_97876910)_(97879673_97887367)del
NC_000009.11:g.(97873920_97876910)_(97934430_98002930)dup
NC_000011.9:g.(?_22644078)_(22647388_?)del
NC_000016.9:g.(89828431_89831297)_(89839793_89842149)del
NC_000016.9:g.(89831475_89833548)_(89883066_?)del
NC_000016.9:g.(89846366_89849266)_(89849511_89851261)del
NC_000016.9:g.(89846366_89849266)_(89871801_89874701)del
NC_000016.9:g.(89862427_89865573)_(89866047_89869666)del
NC_000016.9:g.(89866047_89869666)_(89877480_89880927)del
NC_000016.9:g.(89877480_89880927)_(89883066_?)del
NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs) rs878853660
NM_000135.4(FANCA):c.1352G>A (p.Trp451Ter)
NM_000135.4(FANCA):c.1459dup (p.Arg487fs) rs2039844868
NM_000135.4(FANCA):c.1464C>G (p.Tyr488Ter) rs2039844441
NM_000135.4(FANCA):c.1567-20A>G rs775154397
NM_000135.4(FANCA):c.1912G>T (p.Gly638Ter) rs2143367693
NM_000135.4(FANCA):c.2571C>A (p.Cys857Ter)
NM_000135.4(FANCA):c.2664del (p.Ala889fs)
NM_000135.4(FANCA):c.2853-15_2856del rs1285346388
NM_000135.4(FANCA):c.3581C>T (p.Pro1194Leu) rs1555536390
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del) rs397507553
NM_000135.4(FANCA):c.3973del (p.Asp1325fs) rs2151712879
NM_000135.4(FANCA):c.4130C>G (p.Ser1377Ter) rs199599393
NM_000135.4(FANCA):c.4258G>T (p.Glu1420Ter) rs984285795
NM_000135.4(FANCA):c.427-3C>G rs2040847223
NM_000135.4(FANCA):c.549G>A (p.Trp183Ter) rs758528624
NM_000136.3(FANCC):c.1155-1G>C rs1554829575
NM_000136.3(FANCC):c.1393C>T (p.Gln465Ter) rs1035139114
NM_000136.3(FANCC):c.1533+1G>T rs753885687
NM_000136.3(FANCC):c.1555dup (p.Thr519fs) rs794726667
NM_000136.3(FANCC):c.319C>T (p.Gln107Ter) rs730881731
NM_000136.3(FANCC):c.355_360delinsA (p.Ser119fs) rs587779904
NM_000136.3(FANCC):c.377_378del (p.Arg126fs) rs1564720637
NM_000136.3(FANCC):c.455dup (p.Asn152fs) rs774170058
NM_000136.3(FANCC):c.487_490del (p.Glu163fs) rs730881708
NM_000136.3(FANCC):c.489_490del (p.Asn164fs) rs730881708
NM_000136.3(FANCC):c.514C>T (p.Gln172Ter)
NM_000136.3(FANCC):c.67del (p.Asp23fs) rs104886459
NM_000136.3(FANCC):c.996+1G>A rs370510954
NM_001018115.3(FANCD2):c.1252C>T (p.Gln418Ter)
NM_001018115.3(FANCD2):c.1827+1G>C rs761074497
NM_001018115.3(FANCD2):c.1866_1867delinsAT (p.Gln623Ter) rs2125032674
NM_001018115.3(FANCD2):c.3597del (p.Ala1199_Ile1200insTer)
NM_001018115.3(FANCD2):c.982C>T (p.Arg328Ter) rs1223055462
NM_001113378.2(FANCI):c.1512+1G>A rs2151551135
NM_001113378.2(FANCI):c.295del (p.His99fs) rs759398314
NM_001113378.2(FANCI):c.3187-2A>G
NM_001113378.2(FANCI):c.3493del (p.Asp1165fs) rs758597713
NM_001113378.2(FANCI):c.3626_3627del (p.Cys1209fs) rs770318990
NM_001113378.2(FANCI):c.849T>A (p.Tyr283Ter) rs760412752
NM_004629.2(FANCG):c.1158dup (p.Ser387fs) rs757418016
NM_004629.2(FANCG):c.1465_1467delinsAA (p.Glu489fs)
NM_004629.2(FANCG):c.212T>C (p.Leu71Pro) rs1829130135
NM_004629.2(FANCG):c.336del (p.Arg113fs) rs2131058595
NM_018062.4(FANCL):c.202C>T (p.Arg68Ter) rs1490932431
NM_018062.4(FANCL):c.223C>T (p.Gln75Ter)
NM_018062.4(FANCL):c.28del (p.Arg10fs)
NM_018062.4(FANCL):c.430del (p.Ser144fs) rs869320685
NM_021922.3(FANCE):c.2T>C (p.Met1Thr) rs1462766132
NM_021922.3(FANCE):c.2_7del (p.Met1_Ala2del) rs755938406
NM_021922.3(FANCE):c.339del (p.Leu114fs)
NM_022725.4(FANCF):c.193C>T (p.Gln65Ter) rs753272712
NM_032043.3(BRIP1):c.1473+1G>T rs748274524
NM_032043.3(BRIP1):c.2400C>G (p.Tyr800Ter) rs574552037
NM_032043.3(BRIP1):c.3223_3226del (p.Ser1075fs)
NM_032043.3(BRIP1):c.3390_3393del (p.Tyr1131fs) rs778664039
NM_032043.3(BRIP1):c.679C>T (p.Gln227Ter) rs45459799
NM_032444.4(SLX4):c.100C>T (p.Gln34Ter)

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