ClinVar Miner

List of variants reported as likely benign for Fanconi anemia complementation group E by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 279
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_021922.3(FANCE):c.284A>G (p.Gln95Arg) rs149097636 0.00098
NM_021922.3(FANCE):c.696G>A (p.Glu232=) rs147356927 0.00098
NM_021922.3(FANCE):c.522G>A (p.Gly174=) rs145648734 0.00078
NM_021922.3(FANCE):c.1095A>C (p.Arg365Ser) rs141268133 0.00059
NM_021922.3(FANCE):c.1316+10C>T rs200479051 0.00021
NM_021922.3(FANCE):c.246G>A (p.Glu82=) rs769779495 0.00020
NM_021922.3(FANCE):c.1114-4G>A rs368422520 0.00019
NM_021922.3(FANCE):c.274C>T (p.Arg92Trp) rs375195621 0.00013
NM_021922.3(FANCE):c.903G>C (p.Gly301=) rs781287698 0.00013
NM_021922.3(FANCE):c.52C>T (p.Pro18Ser) rs552241929 0.00009
NM_021922.3(FANCE):c.856-5C>T rs749252957 0.00009
NM_021922.3(FANCE):c.1238-10C>T rs765940689 0.00008
NM_021922.3(FANCE):c.1464C>T (p.Ala488=) rs779775366 0.00008
NM_021922.3(FANCE):c.1062T>C (p.Asp354=) rs377505032 0.00006
NM_021922.3(FANCE):c.1278G>A (p.Met426Ile) rs758380315 0.00006
NM_021922.3(FANCE):c.1509+8T>C rs562092952 0.00006
NM_021922.3(FANCE):c.1608C>G (p.Pro536=) rs370301848 0.00006
NM_021922.3(FANCE):c.552A>C (p.Pro184=) rs138182352 0.00006
NM_021922.3(FANCE):c.901-20C>T rs754828130 0.00006
NM_021922.3(FANCE):c.954A>G (p.Glu318=) rs149719310 0.00006
NM_021922.3(FANCE):c.970-17C>A rs758179752 0.00006
NM_021922.3(FANCE):c.210G>A (p.Glu70=) rs1008512809 0.00005
NM_021922.3(FANCE):c.861G>A (p.Gln287=) rs772248459 0.00005
NM_021922.3(FANCE):c.1238-13G>C rs756557647 0.00004
NM_021922.3(FANCE):c.312C>T (p.Ala104=) rs575747751 0.00004
NM_021922.3(FANCE):c.499C>T (p.Leu167=) rs140563583 0.00004
NM_021922.3(FANCE):c.84C>T (p.Leu28=) rs1160645936 0.00004
NM_021922.3(FANCE):c.856-11C>G rs756018135 0.00004
NM_021922.3(FANCE):c.1086G>C (p.Val362=) rs146571065 0.00003
NM_021922.3(FANCE):c.1092C>T (p.Thr364=) rs776318917 0.00003
NM_021922.3(FANCE):c.1200C>T (p.Ser400=) rs752689765 0.00003
NM_021922.3(FANCE):c.1509+19T>C rs760565814 0.00003
NM_021922.3(FANCE):c.1237+8T>A rs1767499963 0.00002
NM_021922.3(FANCE):c.1316+18C>T rs768893669 0.00002
NM_021922.3(FANCE):c.1510-12C>G rs747704642 0.00002
NM_021922.3(FANCE):c.399C>T (p.Leu133=) rs1056749845 0.00002
NM_021922.3(FANCE):c.970-15G>A rs369631267 0.00002
NM_021922.3(FANCE):c.981G>A (p.Leu327=) rs772385794 0.00002
NM_021922.3(FANCE):c.1017C>T (p.Leu339=) rs1277513595 0.00001
NM_021922.3(FANCE):c.1053T>G (p.Leu351=) rs755165473 0.00001
NM_021922.3(FANCE):c.1221C>T (p.Leu407=) rs752130850 0.00001
NM_021922.3(FANCE):c.1237+20C>G rs755688409 0.00001
NM_021922.3(FANCE):c.1384-14C>T rs558453150 0.00001
NM_021922.3(FANCE):c.1384-5T>C rs777064305 0.00001
NM_021922.3(FANCE):c.1395C>T (p.Thr465=) rs770219946 0.00001
NM_021922.3(FANCE):c.148C>T (p.Leu50=) rs1278828834 0.00001
NM_021922.3(FANCE):c.1512C>A (p.Ile504=) rs760228323 0.00001
NM_021922.3(FANCE):c.1525A>C (p.Arg509=) rs1293230097 0.00001
NM_021922.3(FANCE):c.1581G>A (p.Leu527=) rs757384407 0.00001
NM_021922.3(FANCE):c.15C>T (p.Asp5=) rs1298974698 0.00001
NM_021922.3(FANCE):c.216G>T (p.Pro72=) rs886061328 0.00001
NM_021922.3(FANCE):c.324G>A (p.Ser108=) rs762826105 0.00001
NM_021922.3(FANCE):c.327G>C (p.Leu109=) rs1767304773 0.00001
NM_021922.3(FANCE):c.330G>A (p.Pro110=) rs757051494 0.00001
NM_021922.3(FANCE):c.466C>T (p.Leu156=) rs747537380 0.00001
NM_021922.3(FANCE):c.480C>T (p.Cys160=) rs45509302 0.00001
NM_021922.3(FANCE):c.495A>G (p.Gln165=) rs781480072 0.00001
NM_021922.3(FANCE):c.501A>G (p.Leu167=) rs769404523 0.00001
NM_021922.3(FANCE):c.540C>T (p.Ser180=) rs781691272 0.00001
NM_021922.3(FANCE):c.621G>A (p.Glu207=) rs1195525206 0.00001
NM_021922.3(FANCE):c.693G>A (p.Lys231=) rs202207657 0.00001
NM_021922.3(FANCE):c.744A>G (p.Ala248=) rs774688796 0.00001
NM_021922.3(FANCE):c.786C>T (p.Gly262=) rs755421532 0.00001
NM_021922.3(FANCE):c.792C>T (p.Asp264=) rs758132363 0.00001
NM_021922.3(FANCE):c.798G>A (p.Ser266=) rs746542545 0.00001
NM_021922.3(FANCE):c.951C>T (p.His317=) rs753841588 0.00001
NM_021922.3(FANCE):c.969+16T>G rs780283194 0.00001
NM_021922.3(FANCE):c.970-18C>G rs1376629458 0.00001
NM_021922.3(FANCE):c.993G>A (p.Leu331=) rs1358873070 0.00001
NM_021922.3(FANCE):c.999C>T (p.Leu333=) rs776082827 0.00001
NM_021922.3(FANCE):c.1023C>T (p.Leu341=) rs1767435236
NM_021922.3(FANCE):c.1029G>A (p.Arg343=)
NM_021922.3(FANCE):c.1044G>A (p.Leu348=)
NM_021922.3(FANCE):c.105G>A (p.Ala35=)
NM_021922.3(FANCE):c.105G>C (p.Ala35=)
NM_021922.3(FANCE):c.1068C>T (p.Ser356=)
NM_021922.3(FANCE):c.1087C>T (p.Leu363=)
NM_021922.3(FANCE):c.108G>T (p.Gly36=)
NM_021922.3(FANCE):c.1113+10T>C
NM_021922.3(FANCE):c.1113+11T>C
NM_021922.3(FANCE):c.1113+15A>T
NM_021922.3(FANCE):c.1113+20C>T
NM_021922.3(FANCE):c.1114-11G>T
NM_021922.3(FANCE):c.1114-16T>G rs2150896195
NM_021922.3(FANCE):c.1114-17C>T
NM_021922.3(FANCE):c.1114-17del
NM_021922.3(FANCE):c.1131C>A (p.Ser377=)
NM_021922.3(FANCE):c.1155T>C (p.Thr385=)
NM_021922.3(FANCE):c.1158C>A (p.Ala386=)
NM_021922.3(FANCE):c.1164C>T (p.Thr388=) rs2150896392
NM_021922.3(FANCE):c.1176C>G (p.Ala392=) rs1581704152
NM_021922.3(FANCE):c.1176C>T (p.Ala392=)
NM_021922.3(FANCE):c.1182T>C (p.Tyr394=)
NM_021922.3(FANCE):c.1206C>T (p.Leu402=)
NM_021922.3(FANCE):c.1221C>G (p.Leu407=) rs752130850
NM_021922.3(FANCE):c.1237+14C>T
NM_021922.3(FANCE):c.1237+18C>T
NM_021922.3(FANCE):c.1237+20C>T
NM_021922.3(FANCE):c.1237+7C>T
NM_021922.3(FANCE):c.1238-13del
NM_021922.3(FANCE):c.1254G>A (p.Glu418=)
NM_021922.3(FANCE):c.1258C>T (p.Leu420=)
NM_021922.3(FANCE):c.1260G>T (p.Leu420=)
NM_021922.3(FANCE):c.1263T>C (p.Cys421=) rs747692546
NM_021922.3(FANCE):c.1266C>T (p.Cys422=)
NM_021922.3(FANCE):c.1284C>G (p.Ser428=)
NM_021922.3(FANCE):c.1296T>C (p.Asp432=)
NM_021922.3(FANCE):c.1316+13G>A
NM_021922.3(FANCE):c.1316+20T>C rs2150897379
NM_021922.3(FANCE):c.1317-18A>G
NM_021922.3(FANCE):c.1317-7T>C
NM_021922.3(FANCE):c.1317-9G>A
NM_021922.3(FANCE):c.1332G>A (p.Leu444=)
NM_021922.3(FANCE):c.1344G>A (p.Glu448=)
NM_021922.3(FANCE):c.1353C>T (p.Phe451=) rs2150898463
NM_021922.3(FANCE):c.1354T>C (p.Leu452=)
NM_021922.3(FANCE):c.1359G>A (p.Val453=)
NM_021922.3(FANCE):c.1371C>T (p.Leu457=)
NM_021922.3(FANCE):c.1374A>G (p.Leu458=)
NM_021922.3(FANCE):c.1383+10C>T rs1060504374
NM_021922.3(FANCE):c.1383+12G>T
NM_021922.3(FANCE):c.1383+13C>T
NM_021922.3(FANCE):c.1383+15C>G rs1426965534
NM_021922.3(FANCE):c.1383+16T>C
NM_021922.3(FANCE):c.1383+17G>A
NM_021922.3(FANCE):c.1383+17G>C
NM_021922.3(FANCE):c.1383+8G>C
NM_021922.3(FANCE):c.1384-10A>T rs2150901325
NM_021922.3(FANCE):c.1384-16C>A
NM_021922.3(FANCE):c.1384-19C>T
NM_021922.3(FANCE):c.138G>A (p.Val46=) rs2150885789
NM_021922.3(FANCE):c.1398T>C (p.Pro466=)
NM_021922.3(FANCE):c.1413C>T (p.Val471=)
NM_021922.3(FANCE):c.141C>T (p.Leu47=)
NM_021922.3(FANCE):c.1428C>T (p.Leu476=)
NM_021922.3(FANCE):c.1440G>T (p.Gly480=) rs757745455
NM_021922.3(FANCE):c.1452C>G (p.Thr484=)
NM_021922.3(FANCE):c.1455C>T (p.Thr485=)
NM_021922.3(FANCE):c.1464C>G (p.Ala488=)
NM_021922.3(FANCE):c.1476C>T (p.Leu492=)
NM_021922.3(FANCE):c.1488G>A (p.Val496=)
NM_021922.3(FANCE):c.1494C>T (p.Thr498=)
NM_021922.3(FANCE):c.1509+13A>G
NM_021922.3(FANCE):c.1509+14G>A
NM_021922.3(FANCE):c.1509+14G>C
NM_021922.3(FANCE):c.1509+16G>T rs2150901703
NM_021922.3(FANCE):c.1509+17C>A rs748424208
NM_021922.3(FANCE):c.1509+7A>G rs1021695027
NM_021922.3(FANCE):c.1509+8T>G
NM_021922.3(FANCE):c.1510-10T>G
NM_021922.3(FANCE):c.1510-13T>A
NM_021922.3(FANCE):c.1510-15T>C
NM_021922.3(FANCE):c.1510-17T>C
NM_021922.3(FANCE):c.1510-6C>T
NM_021922.3(FANCE):c.1510-9T>C rs369210475
NM_021922.3(FANCE):c.1512C>T (p.Ile504=)
NM_021922.3(FANCE):c.1515T>C (p.Thr505=)
NM_021922.3(FANCE):c.1518G>A (p.Glu506=)
NM_021922.3(FANCE):c.153C>T (p.Gly51=)
NM_021922.3(FANCE):c.1587C>T (p.Ala529=)
NM_021922.3(FANCE):c.1593G>A (p.Leu531=) rs886061332
NM_021922.3(FANCE):c.159C>G (p.Arg53=)
NM_021922.3(FANCE):c.1600T>C (p.Leu534=)
NM_021922.3(FANCE):c.1608C>T (p.Pro536=)
NM_021922.3(FANCE):c.162C>T (p.Gly54=)
NM_021922.3(FANCE):c.174C>T (p.Phe58=)
NM_021922.3(FANCE):c.18G>T (p.Ala6=) rs962145261
NM_021922.3(FANCE):c.192C>G (p.Leu64=)
NM_021922.3(FANCE):c.199C>T (p.Leu67=) rs1161408735
NM_021922.3(FANCE):c.207G>T (p.Arg69=)
NM_021922.3(FANCE):c.216G>A (p.Pro72=)
NM_021922.3(FANCE):c.222G>C (p.Val74=) rs1015415361
NM_021922.3(FANCE):c.222G>T (p.Val74=) rs1015415361
NM_021922.3(FANCE):c.248+11G>A
NM_021922.3(FANCE):c.248+11G>C
NM_021922.3(FANCE):c.248+13C>T
NM_021922.3(FANCE):c.248+14C>A
NM_021922.3(FANCE):c.248+19C>T
NM_021922.3(FANCE):c.249-11C>A
NM_021922.3(FANCE):c.249-18T>C
NM_021922.3(FANCE):c.259T>C (p.Leu87=)
NM_021922.3(FANCE):c.265C>A (p.Arg89=)
NM_021922.3(FANCE):c.273C>T (p.Pro91=)
NM_021922.3(FANCE):c.304C>T (p.Leu102=)
NM_021922.3(FANCE):c.318G>A (p.Arg106=)
NM_021922.3(FANCE):c.325C>T (p.Leu109=)
NM_021922.3(FANCE):c.342C>T (p.Leu114=)
NM_021922.3(FANCE):c.345C>T (p.Leu115=)
NM_021922.3(FANCE):c.351G>A (p.Val117=)
NM_021922.3(FANCE):c.358A>G (p.Ile120Val) rs201961713
NM_021922.3(FANCE):c.363C>G (p.Ala121=)
NM_021922.3(FANCE):c.373C>T (p.Leu125=)
NM_021922.3(FANCE):c.39C>T (p.Gly13=)
NM_021922.3(FANCE):c.405C>T (p.Ala135=) rs1767311517
NM_021922.3(FANCE):c.415T>C (p.Leu139=)
NM_021922.3(FANCE):c.421C>A (p.Arg141=)
NM_021922.3(FANCE):c.426G>A (p.Arg142=)
NM_021922.3(FANCE):c.430T>C (p.Leu144=) rs1377892215
NM_021922.3(FANCE):c.435G>C (p.Gly145=)
NM_021922.3(FANCE):c.438G>A (p.Val146=)
NM_021922.3(FANCE):c.444C>G (p.Thr148=)
NM_021922.3(FANCE):c.447C>G (p.Ser149=)
NM_021922.3(FANCE):c.456A>C (p.Gly152=)
NM_021922.3(FANCE):c.465A>G (p.Pro155=)
NM_021922.3(FANCE):c.465A>T (p.Pro155=)
NM_021922.3(FANCE):c.477A>G (p.Arg159=)
NM_021922.3(FANCE):c.519G>A (p.Leu173=)
NM_021922.3(FANCE):c.519G>C (p.Leu173=)
NM_021922.3(FANCE):c.519G>T (p.Leu173=)
NM_021922.3(FANCE):c.51G>T (p.Ala17=)
NM_021922.3(FANCE):c.525C>T (p.Gly175=)
NM_021922.3(FANCE):c.531G>A (p.Arg177=)
NM_021922.3(FANCE):c.543C>G (p.Pro181=)
NM_021922.3(FANCE):c.54C>T (p.Pro18=)
NM_021922.3(FANCE):c.552A>G (p.Pro184=)
NM_021922.3(FANCE):c.561A>G (p.Glu187=) rs1554121329
NM_021922.3(FANCE):c.564A>G (p.Glu188=)
NM_021922.3(FANCE):c.567G>A (p.Glu189=)
NM_021922.3(FANCE):c.597A>G (p.Lys199=)
NM_021922.3(FANCE):c.600C>T (p.Arg200=)
NM_021922.3(FANCE):c.618A>G (p.Glu206=)
NM_021922.3(FANCE):c.627C>G (p.Ala209=)
NM_021922.3(FANCE):c.636G>A (p.Glu212=)
NM_021922.3(FANCE):c.642G>A (p.Lys214=)
NM_021922.3(FANCE):c.663G>T (p.Arg221=)
NM_021922.3(FANCE):c.702C>G (p.Pro234=)
NM_021922.3(FANCE):c.702C>T (p.Pro234=)
NM_021922.3(FANCE):c.711G>A (p.Lys237=)
NM_021922.3(FANCE):c.720A>G (p.Glu240=)
NM_021922.3(FANCE):c.723C>T (p.Ser241=)
NM_021922.3(FANCE):c.726G>A (p.Leu242=)
NM_021922.3(FANCE):c.756G>A (p.Lys252=)
NM_021922.3(FANCE):c.759C>T (p.Asp253=) rs200243667
NM_021922.3(FANCE):c.75C>T (p.Pro25=)
NM_021922.3(FANCE):c.768C>T (p.Val256=)
NM_021922.3(FANCE):c.777T>G (p.Val259=)
NM_021922.3(FANCE):c.798G>T (p.Ser266=) rs746542545
NM_021922.3(FANCE):c.807T>C (p.Asp269=)
NM_021922.3(FANCE):c.813T>C (p.Ala271=)
NM_021922.3(FANCE):c.832T>C (p.Leu278=)
NM_021922.3(FANCE):c.838T>C (p.Leu280=)
NM_021922.3(FANCE):c.855+17A>T
NM_021922.3(FANCE):c.855+18C>G
NM_021922.3(FANCE):c.855+8G>A
NM_021922.3(FANCE):c.855+9G>A
NM_021922.3(FANCE):c.856-11C>T
NM_021922.3(FANCE):c.856-14G>T
NM_021922.3(FANCE):c.856-18C>T
NM_021922.3(FANCE):c.856-20G>T
NM_021922.3(FANCE):c.856-6C>T
NM_021922.3(FANCE):c.856-7T>C
NM_021922.3(FANCE):c.880C>T (p.Leu294=)
NM_021922.3(FANCE):c.897G>A (p.Glu299=) rs2150893491
NM_021922.3(FANCE):c.901-10G>A
NM_021922.3(FANCE):c.901-15G>C
NM_021922.3(FANCE):c.901-5C>T
NM_021922.3(FANCE):c.901-6C>T
NM_021922.3(FANCE):c.901-7T>C rs2150893886
NM_021922.3(FANCE):c.903G>A (p.Gly301=) rs781287698
NM_021922.3(FANCE):c.927C>G (p.Pro309=) rs763403812
NM_021922.3(FANCE):c.927C>T (p.Pro309=)
NM_021922.3(FANCE):c.930A>G (p.Pro310=)
NM_021922.3(FANCE):c.937C>T (p.Leu313=) rs557021652
NM_021922.3(FANCE):c.969+11A>T
NM_021922.3(FANCE):c.969+18C>T
NM_021922.3(FANCE):c.969+20T>A
NM_021922.3(FANCE):c.969+7C>T
NM_021922.3(FANCE):c.969+9A>C
NM_021922.3(FANCE):c.96G>T (p.Ala32=)
NM_021922.3(FANCE):c.970-12C>T
NM_021922.3(FANCE):c.970-16C>G rs117779586
NM_021922.3(FANCE):c.970-18C>A rs1376629458
NM_021922.3(FANCE):c.970-18C>T
NM_021922.3(FANCE):c.970-20C>G rs765193137
NM_021922.3(FANCE):c.970-8G>A
NM_021922.3(FANCE):c.970-9T>G
NM_021922.3(FANCE):c.975C>T (p.Asp325=)
NM_021922.3(FANCE):c.976T>C (p.Leu326=)
NM_021922.3(FANCE):c.981G>T (p.Leu327=) rs772385794

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