ClinVar Miner

List of variants in gene combination FANCA, ZNF276 reported by Leiden Open Variation Database

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Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.3982A>G (p.Thr1328Ala) rs9282681 0.05868
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp) rs17227403 0.00362
NM_001113525.2(ZNF276):c.*841G>A rs191404781 0.00092
NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr) rs17227396 0.00056
NM_001113525.2(ZNF276):c.*105C>T rs557319516 0.00013
NM_000135.4(FANCA):c.4015del (p.Leu1339fs) rs762902309 0.00004
NM_000135.4(FANCA):c.3766-2A>G rs1219402916 0.00001
NM_000135.4(FANCA):c.3813dup (p.His1272fs) rs1555534521 0.00001
NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe) rs753700179 0.00001
NM_000135.4(FANCA):c.3971C>T (p.Pro1324Leu) rs182657062 0.00001
NM_000135.4(FANCA):c.4069_4082del (p.Ala1357fs) rs747892390 0.00001
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys) rs745882980 0.00001
NC_000016.10:g.(89738709_89738881)_(89752223_89758576)del
NC_000016.10:g.(89739290_89739477)_(89783103_89784853)del
NC_000016.10:g.(89739290_89739477)_(89811072_89814519)del
NC_000016.10:g.(89740100_89740803)_(89740867_89742799)del
NC_000016.10:g.(89740100_89740803)_(89799233_89799604)del
NC_000016.10:g.(89740100_89740803)_(89816657_?)del
NC_000016.10:g.(89740867_89742799)_(89779958_89782858)del
NC_000016.10:g.(89740867_89742799)_(89816657_?)del
NC_000016.10:g.(?_89737551)_(89740100_89740803)del
NC_000016.10:g.(?_89737551)_(89740867_89742799)del
NC_000016.10:g.(?_89737551)_(89752222_89758576)del
NC_000016.10:g.(?_89737551)_(89752223_89758576)del
NC_000016.10:g.(?_89737551)_(89758706_89761948)del
NC_000016.10:g.(?_89737551)_(89765067_89767140)del
NC_000016.10:g.(?_89737551)_(89767238_89769836)del
NC_000016.10:g.(?_89737551)_(89784965_89791402)del
NC_000016.10:g.(?_89737551)_(89799639_89803258)del
NC_000016.10:g.(?_89737551)_(89814614_89815876)del
NC_000016.10:g.(?_89737551)_(89815987_89816536)del
NC_000016.10:g.(?_89737551)_(89816657_?)del
NM_000135.4(FANCA):c.3774_3776del (p.Phe1259del) rs2062115822
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del) rs397507553
NM_000135.4(FANCA):c.3786C>G (p.Phe1262Leu) rs2062115605
NM_000135.4(FANCA):c.3829-1G>C rs2062090760
NM_000135.4(FANCA):c.3847_3857del (p.Lys1283fs) rs2062089925
NM_000135.4(FANCA):c.3878del (p.Glu1293fs) rs2062089336
NM_000135.4(FANCA):c.3884T>A (p.Leu1295Ter) rs986710868
NM_000135.4(FANCA):c.3884T>G (p.Leu1295Ter) rs986710868
NM_000135.4(FANCA):c.3904T>C (p.Trp1302Arg) rs878853665
NM_000135.4(FANCA):c.3917_3918del (p.Phe1306fs) rs1281446470
NM_000135.4(FANCA):c.3918dup (p.Gln1307fs) rs1281446470
NM_000135.4(FANCA):c.3920del (p.Gln1307fs) rs1228394297
NM_000135.4(FANCA):c.3926_3929del (p.Thr1309fs) rs2062087915
NM_000135.4(FANCA):c.3934+1G>A rs2062087795
NM_000135.4(FANCA):c.3934+1_3934+18del rs2062086999
NM_000135.4(FANCA):c.3973G>C (p.Asp1325His) rs2062069547
NM_000135.4(FANCA):c.4006T>G (p.Tyr1336Asp) rs2062068153
NM_000135.4(FANCA):c.4009A>G (p.Ser1337Gly) rs1268944859
NM_000135.4(FANCA):c.4010+1G>A rs2062067810
NM_000135.4(FANCA):c.4010+1_4010+18del rs752457319
NM_000135.4(FANCA):c.4010+2T>C rs2062067746
NM_000135.4(FANCA):c.4010G>A (p.Ser1337Asn) rs2062067864
NM_000135.4(FANCA):c.4010_4010+18del rs2062066871
NM_000135.4(FANCA):c.4015_4017del (p.Leu1339del) rs2062060149
NM_000135.4(FANCA):c.4017_4021del (p.Ser1340fs) rs773113065
NM_000135.4(FANCA):c.4064_4065dup (p.Val1356fs) rs2062057713
NM_000135.4(FANCA):c.4069G>C (p.Ala1357Pro) rs1456500627
NM_000135.4(FANCA):c.4075G>T (p.Asp1359Tyr) rs1555533313
NM_000135.4(FANCA):c.4080G>C (p.Met1360Ile) rs1555533300
NM_000135.4(FANCA):c.4082A>C (p.Tyr1361Ser) rs1218453412
NM_000135.4(FANCA):c.4083_4084insG (p.Leu1362fs) rs2062057035
NM_000135.4(FANCA):c.4123_4139del (p.Thr1375fs) rs2062054591
NM_000135.4(FANCA):c.4124_4125del (p.Thr1375fs) rs776969626
NM_000135.4(FANCA):c.4130C>G (p.Ser1377Ter) rs199599393
NM_000135.4(FANCA):c.4168-1G>C rs2062047006
NM_000135.4(FANCA):c.4168-2A>G rs1220672299
NM_000135.4(FANCA):c.4195G>C (p.Ala1399Pro) rs749574677
NM_000135.4(FANCA):c.4199G>C (p.Arg1400Pro) rs149851163
NM_000135.4(FANCA):c.4240_4241del (p.Ser1414fs) rs2062043035
NM_000135.4(FANCA):c.4261-2A>G rs915983602
NM_000135.4(FANCA):c.4268_*37del (p.Ala1423_Ter1456delinsXaa) rs2062027006
NM_000135.4(FANCA):c.4275del (p.Asp1427fs) rs1598048941
NM_000135.4(FANCA):c.4285_4288dup (p.Pro1430fs) rs2049528619
NM_001113525.2(ZNF276):c.*465G>C rs765478990
NM_001113525.2(ZNF276):c.*474_*481del rs1567591276

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