ClinVar Miner

List of variants in gene combination FANCA, ZNF276 reported as uncertain significance for Fanconi anemia complementation group A

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Total variants: 108
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp) rs17227403 0.00362
NM_000135.4(FANCA):c.4303G>A (p.Ala1435Thr) rs74977201 0.00176
NM_001113525.2(ZNF276):c.*183C>T rs577149121 0.00090
NM_001113525.2(ZNF276):c.1475-48G>A rs201316239 0.00086
NM_001113525.2(ZNF276):c.1475-142T>C rs55794507 0.00051
NM_000135.4(FANCA):c.3981C>T (p.His1327=) rs141278771 0.00036
NM_001113525.2(ZNF276):c.*217A>T rs775549018 0.00032
NM_001113525.2(ZNF276):c.1679G>A (p.Gly560Asp) rs144644592 0.00030
NM_001113525.2(ZNF276):c.*211C>G rs575606938 0.00029
NM_001113525.2(ZNF276):c.1475-24A>G rs186050933 0.00024
NM_000135.4(FANCA):c.3801C>T (p.Gly1267=) rs143772894 0.00022
NM_001113525.2(ZNF276):c.*1862C>T rs776077648 0.00022
NM_001113525.2(ZNF276):c.*209G>A rs556325258 0.00022
NM_000135.4(FANCA):c.4302C>T (p.Ala1434=) rs142784426 0.00021
NM_001113525.2(ZNF276):c.*251C>T rs55859244 0.00019
NM_001113525.2(ZNF276):c.*38C>T rs201817705 0.00019
NM_000135.4(FANCA):c.3848A>G (p.Lys1283Arg) rs146975341 0.00017
NM_000135.4(FANCA):c.4015C>T (p.Leu1339Phe) rs149775657 0.00015
NM_001113525.2(ZNF276):c.*105C>T rs557319516 0.00013
NM_001113525.2(ZNF276):c.*471G>C rs368506826 0.00012
NM_000135.4(FANCA):c.3999C>T (p.Phe1333=) rs774576283 0.00009
NM_000135.4(FANCA):c.4177G>A (p.Val1393Met) rs199652831 0.00009
NM_000135.4(FANCA):c.4225C>T (p.Arg1409Trp) rs139478274 0.00009
NM_000135.4(FANCA):c.3950G>A (p.Arg1317Gln) rs376523966 0.00006
NM_000135.4(FANCA):c.3962G>A (p.Arg1321His) rs374649848 0.00006
NM_000135.4(FANCA):c.4064A>T (p.His1355Leu) rs145886270 0.00006
NM_000135.4(FANCA):c.4232C>T (p.Pro1411Leu) rs201494304 0.00006
NM_000135.4(FANCA):c.4244T>G (p.Phe1415Cys) rs201658945 0.00006
NM_000135.4(FANCA):c.4273C>T (p.Arg1425Cys) rs587778321 0.00006
NM_000135.4(FANCA):c.4300G>A (p.Ala1434Thr) rs374984587 0.00006
NM_001113525.2(ZNF276):c.*2634C>T rs34476949 0.00006
NM_001113525.2(ZNF276):c.1753A>G (p.Lys585Glu) rs771942409 0.00006
NM_000135.4(FANCA):c.4325C>G (p.Ala1442Gly) rs144171225 0.00005
NM_000135.4(FANCA):c.4133C>T (p.Pro1378Leu) rs760814763 0.00004
NM_001113525.2(ZNF276):c.*313T>A rs529748804 0.00004
NM_000135.4(FANCA):c.3798G>A (p.Met1266Ile) rs1443680543 0.00003
NM_000135.4(FANCA):c.4121G>T (p.Ser1374Ile) rs1254151716 0.00003
NM_000135.4(FANCA):c.4199G>A (p.Arg1400His) rs149851163 0.00003
NM_001113525.2(ZNF276):c.1574+24C>G rs17233819 0.00003
NM_000135.4(FANCA):c.4016T>C (p.Leu1339Pro) rs1219627612 0.00002
NM_000135.4(FANCA):c.4037C>T (p.Ala1346Val) rs201886956 0.00002
NM_000135.4(FANCA):c.4218A>T (p.Leu1406Phe) rs752245802 0.00002
NM_000135.4(FANCA):c.4252G>A (p.Val1418Met) rs145148206 0.00002
NM_000135.4(FANCA):c.4294G>T (p.Val1432Leu) rs769243354 0.00002
NM_000135.4(FANCA):c.4331_4332del (p.Pro1444fs) rs1030509993 0.00002
NM_001113525.2(ZNF276):c.*354G>A rs370357192 0.00002
NM_000135.4(FANCA):c.3809C>T (p.Ser1270Leu) rs752800577 0.00001
NM_000135.4(FANCA):c.3817C>G (p.Leu1273Val) rs759514393 0.00001
NM_000135.4(FANCA):c.3838G>A (p.Asp1280Asn) rs914045767 0.00001
NM_000135.4(FANCA):c.3843G>A (p.Leu1281=) rs768380959 0.00001
NM_000135.4(FANCA):c.3858C>T (p.His1286=) rs761705192 0.00001
NM_000135.4(FANCA):c.3893G>C (p.Arg1298Thr) rs1261384324 0.00001
NM_000135.4(FANCA):c.3949C>T (p.Arg1317Trp) rs200215131 0.00001
NM_000135.4(FANCA):c.4098G>C (p.Gln1366His) rs1041491550 0.00001
NM_000135.4(FANCA):c.4113G>T (p.Gly1371=) rs1060501882 0.00001
NM_000135.4(FANCA):c.4167+2C>T rs374765708 0.00001
NM_000135.4(FANCA):c.4188A>G (p.Ile1396Met) rs1441175300 0.00001
NM_000135.4(FANCA):c.4274G>A (p.Arg1425His) rs147406377 0.00001
NM_001113525.2(ZNF276):c.*1220G>A rs1445940471 0.00001
NM_001113525.2(ZNF276):c.*883C>T rs370080063 0.00001
NM_001113525.2(ZNF276):c.1475-56C>T rs886052478 0.00001
NM_001113525.2(ZNF276):c.1575G>A (p.Gln525=) rs779094661 0.00001
NC_000016.10:g.(89738709_89738881)_(89752223_89758576)del
NC_000016.10:g.(89739290_89739477)_(89811072_89814519)del
NC_000016.10:g.(89740100_89740803)_(89816657_?)del
NC_000016.10:g.(?_89737551)_(89740100_89740803)del
NC_000016.10:g.(?_89737551)_(89758706_89761948)del
NC_000016.10:g.(?_89737551)_(89767238_89769836)del
NC_000016.10:g.(?_89737551)_(89815987_89816536)del
NM_000135.4(FANCA):c.3784T>C (p.Phe1262Leu) rs1555534579
NM_000135.4(FANCA):c.3789_3794dup (p.Ser1264_Leu1265insPheSer)
NM_000135.4(FANCA):c.3795G>C (p.Leu1265Phe) rs1010989878
NM_000135.4(FANCA):c.3795G>T (p.Leu1265Phe)
NM_000135.4(FANCA):c.3850G>A (p.Ala1284Thr) rs142919010
NM_000135.4(FANCA):c.3850G>C (p.Ala1284Pro) rs142919010
NM_000135.4(FANCA):c.3859G>T (p.Val1287Phe) rs17227354
NM_000135.4(FANCA):c.3878del (p.Glu1293fs) rs2062089336
NM_000135.4(FANCA):c.3884T>G (p.Leu1295Ter) rs986710868
NM_000135.4(FANCA):c.3898A>G (p.Ile1300Val) rs1232415717
NM_000135.4(FANCA):c.3901T>A (p.Ser1301Thr) rs765162125
NM_000135.4(FANCA):c.3934+1G>A rs2062087795
NM_000135.4(FANCA):c.3934+1_3934+18del rs2062086999
NM_000135.4(FANCA):c.3953TCC[2] (p.Leu1320del) rs927201841
NM_000135.4(FANCA):c.3961C>T (p.Arg1321Cys) rs755375493
NM_000135.4(FANCA):c.3989_3994del (p.Leu1330_Leu1331del) rs1555533593
NM_000135.4(FANCA):c.4010G>A (p.Ser1337Asn) rs2062067864
NM_000135.4(FANCA):c.4022A>C (p.Tyr1341Ser) rs768733593
NM_000135.4(FANCA):c.4053G>C (p.Glu1351Asp) rs1477796994
NM_000135.4(FANCA):c.4056C>T (p.Ala1352=) rs2062057880
NM_000135.4(FANCA):c.4075G>T (p.Asp1359Tyr) rs1555533313
NM_000135.4(FANCA):c.4080G>A (p.Met1360Ile) rs1555533300
NM_000135.4(FANCA):c.4128T>C (p.Val1376=) rs1209384219
NM_000135.4(FANCA):c.4145G>C (p.Arg1382Thr) rs367970303
NM_000135.4(FANCA):c.4167G>T (p.Gln1389His) rs1598051449
NM_000135.4(FANCA):c.4174C>T (p.Pro1392Ser)
NM_000135.4(FANCA):c.4196C>T (p.Ala1399Val) rs1457671800
NM_000135.4(FANCA):c.4261-2A>G rs915983602
NM_000135.4(FANCA):c.4285G>A (p.Asp1429Asn) rs748856769
NM_000135.4(FANCA):c.4316G>C (p.Arg1439Thr) rs587778322
NM_000135.4(FANCA):c.4318C>T (p.Gln1440Ter) rs767234774
NM_001113525.2(ZNF276):c.*1314C>T rs2062071481
NM_001113525.2(ZNF276):c.*246G>A rs55679217
NM_001113525.2(ZNF276):c.*469G>C
NM_001113525.2(ZNF276):c.*630C>A rs374793201
NM_001113525.2(ZNF276):c.*630C>G rs374793201
NM_001113525.2(ZNF276):c.*732G>A rs775180524
NM_001113525.2(ZNF276):c.*882C>T
NM_001113525.2(ZNF276):c.1475-217T>C rs886052477

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