ClinVar Miner

List of variants in gene FANCM reported as pathogenic for congenital limb malformation

Included ClinVar conditions (336):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 143
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter) rs147021911 0.00104
NM_020937.4(FANCM):c.5791C>T (p.Arg1931Ter) rs144567652 0.00088
NM_020937.4(FANCM):c.1972C>T (p.Arg658Ter) rs368728266 0.00009
NM_020937.4(FANCM):c.1491dup (p.Gln498fs) rs797045116 0.00005
NM_020937.4(FANCM):c.1777C>T (p.Arg593Ter) rs773014744 0.00004
NM_020937.4(FANCM):c.4270C>T (p.Arg1424Ter) rs751954386 0.00003
NM_020937.4(FANCM):c.1456C>T (p.Arg486Ter) rs1011870043 0.00002
NM_020937.4(FANCM):c.1060C>T (p.Gln354Ter) rs1156577591 0.00001
NM_020937.4(FANCM):c.1213C>T (p.Arg405Ter) rs1034818403 0.00001
NM_020937.4(FANCM):c.1717C>T (p.Arg573Ter) rs140760056 0.00001
NM_020937.4(FANCM):c.1879C>T (p.Arg627Ter) rs374626826 0.00001
NM_020937.4(FANCM):c.1969C>T (p.Gln657Ter) rs903442271 0.00001
NM_020937.4(FANCM):c.2578G>T (p.Glu860Ter) rs1383262366 0.00001
NM_020937.4(FANCM):c.2831_2832insAATATTCAATTATATTATTACAT (p.Gly945fs) rs1888623566 0.00001
NM_020937.4(FANCM):c.3979_3980del (p.Gln1327fs) rs757391108 0.00001
NM_020937.4(FANCM):c.4003_4004insG (p.Lys1335fs) rs1566766719 0.00001
NM_020937.4(FANCM):c.4401del (p.Ser1468fs) rs1405059699 0.00001
NM_020937.4(FANCM):c.5221dup (p.Thr1741fs) rs758498345 0.00001
NM_020937.4(FANCM):c.5530del (p.Gln1844fs) rs778451008 0.00001
NM_020937.4(FANCM):c.5647C>T (p.Gln1883Ter) rs1379375089 0.00001
NM_020937.4(FANCM):c.679C>T (p.Gln227Ter) rs1209536013 0.00001
NC_000014.8:g.(?_45605235)_(45609922_?)del
NC_000014.8:g.(?_45618030)_(45646189_?)del
NC_000014.8:g.(?_45636143)_(45665760_?)del
NC_000014.8:g.(?_45639782)_(45669211_?)del
NC_000014.8:g.(?_45642248)_(45669211_?)del
NC_000014.9:g.(?_45136032)_(45200008_?)del
NC_000014.9:g.(?_45166940)_(45167173_?)del
NM_020937.4(FANCM):c.1015del (p.Asp339fs) rs1216266838
NM_020937.4(FANCM):c.1123C>T (p.Gln375Ter)
NM_020937.4(FANCM):c.1142C>A (p.Ser381Ter) rs765686151
NM_020937.4(FANCM):c.1165del (p.Ile389fs)
NM_020937.4(FANCM):c.1196C>G (p.Ser399Ter) rs1166587869
NM_020937.4(FANCM):c.1236_1237del (p.Leu412_Tyr413insTer) rs1467556424
NM_020937.4(FANCM):c.1286del (p.Asn429fs)
NM_020937.4(FANCM):c.1335T>G (p.Tyr445Ter) rs1270367757
NM_020937.4(FANCM):c.1363_1366delinsCAAAGTTAAAGAAA (p.Glu455_Val456delinsGlnSerTer)
NM_020937.4(FANCM):c.1432C>T (p.Arg478Ter) rs552052505
NM_020937.4(FANCM):c.1492C>T (p.Gln498Ter) rs2139186499
NM_020937.4(FANCM):c.1506_1507insTA (p.Ile503Ter)
NM_020937.4(FANCM):c.1508_1515del (p.Ile503fs)
NM_020937.4(FANCM):c.1560del (p.Phe520fs) rs2139186964
NM_020937.4(FANCM):c.1591C>T (p.Gln531Ter) rs1447482674
NM_020937.4(FANCM):c.1677_1678del (p.Ile559fs) rs1887822022
NM_020937.4(FANCM):c.1786_1787insTTAC (p.Arg596fs) rs1887832125
NM_020937.4(FANCM):c.1798C>T (p.Gln600Ter) rs778744393
NM_020937.4(FANCM):c.1827_1828dup (p.Lys610fs) rs1888023074
NM_020937.4(FANCM):c.1844del (p.Asn615fs) rs2139214355
NM_020937.4(FANCM):c.2034G>A (p.Trp678Ter)
NM_020937.4(FANCM):c.2040_2041del (p.Leu680fs) rs777996811
NM_020937.4(FANCM):c.2050G>T (p.Glu684Ter)
NM_020937.4(FANCM):c.2076T>A (p.Tyr692Ter)
NM_020937.4(FANCM):c.2108dup (p.Thr704fs)
NM_020937.4(FANCM):c.2138del (p.Leu713fs) rs1594792135
NM_020937.4(FANCM):c.2199_2202del (p.Ser734fs) rs762570903
NM_020937.4(FANCM):c.2201_2202del (p.Leu733_Ser734insTer)
NM_020937.4(FANCM):c.2255C>A (p.Ser752Ter)
NM_020937.4(FANCM):c.2255C>G (p.Ser752Ter) rs1888447684
NM_020937.4(FANCM):c.2255del (p.His751_Ser752insTer)
NM_020937.4(FANCM):c.2260C>T (p.Arg754Ter)
NM_020937.4(FANCM):c.2336dup (p.Leu779fs) rs1404537579
NM_020937.4(FANCM):c.2359del (p.Met787fs)
NM_020937.4(FANCM):c.2503G>T (p.Glu835Ter)
NM_020937.4(FANCM):c.2586_2589del (p.Lys863fs) rs768006618
NM_020937.4(FANCM):c.2589del (p.Asp864fs) rs768006618
NM_020937.4(FANCM):c.2590del (p.Asp864fs) rs1566762159
NM_020937.4(FANCM):c.2605_2606del (p.Glu869fs)
NM_020937.4(FANCM):c.2629dup (p.Ser877fs) rs1888605629
NM_020937.4(FANCM):c.2832_2839delinsAATATTCAATTATATTATTACATTGTTCCAGTGATATTCTTTTATACCTTAT (p.Gly945_Asn947delinsIlePheAsnTyrIleIleThrLeuPheGlnTer) rs2139244126
NM_020937.4(FANCM):c.2953del (p.Glu985fs)
NM_020937.4(FANCM):c.2982dup (p.Ser995fs)
NM_020937.4(FANCM):c.3088C>T (p.Arg1030Ter)
NM_020937.4(FANCM):c.3136C>T (p.Gln1046Ter)
NM_020937.4(FANCM):c.3190del (p.Ser1064fs) rs778191984
NM_020937.4(FANCM):c.3235_3238del (p.Leu1080fs)
NM_020937.4(FANCM):c.3281T>G (p.Leu1094Ter) rs1555364837
NM_020937.4(FANCM):c.3442_3443del (p.Leu1149fs) rs1888681090
NM_020937.4(FANCM):c.3475_3476del (p.Leu1159fs) rs2139248770
NM_020937.4(FANCM):c.3523C>T (p.Gln1175Ter) rs2139249281
NM_020937.4(FANCM):c.3603del (p.Phe1201fs)
NM_020937.4(FANCM):c.3628C>T (p.Gln1210Ter) rs372276411
NM_020937.4(FANCM):c.3639dup (p.Val1214fs)
NM_020937.4(FANCM):c.3732_3735dup (p.Leu1246fs) rs1159078705
NM_020937.4(FANCM):c.3832C>T (p.Gln1278Ter) rs1888718087
NM_020937.4(FANCM):c.3844_3856del (p.Pro1282fs)
NM_020937.4(FANCM):c.3898G>T (p.Glu1300Ter) rs751795256
NM_020937.4(FANCM):c.3950dup (p.Asn1317fs) rs2139252496
NM_020937.4(FANCM):c.3975T>G (p.Tyr1325Ter)
NM_020937.4(FANCM):c.3985del (p.Ser1329fs)
NM_020937.4(FANCM):c.4005del (p.Val1336fs) rs746983128
NM_020937.4(FANCM):c.4005dup (p.Val1336fs) rs746983128
NM_020937.4(FANCM):c.4054A>T (p.Lys1352Ter)
NM_020937.4(FANCM):c.4060_4064del (p.Arg1354fs)
NM_020937.4(FANCM):c.4101dup (p.Val1368fs) rs747974206
NM_020937.4(FANCM):c.4153G>T (p.Glu1385Ter) rs776133776
NM_020937.4(FANCM):c.4194T>G (p.Tyr1398Ter) rs1235515288
NM_020937.4(FANCM):c.4279_4283del (p.Val1427fs)
NM_020937.4(FANCM):c.4281_4287del (p.Lys1428fs)
NM_020937.4(FANCM):c.4285del (p.Arg1429fs) rs1227066484
NM_020937.4(FANCM):c.4294G>T (p.Gly1432Ter)
NM_020937.4(FANCM):c.4304_4305insSVAelement
NM_020937.4(FANCM):c.4456del (p.Val1486fs) rs1478392446
NM_020937.4(FANCM):c.4475_4485del (p.Arg1492fs)
NM_020937.4(FANCM):c.4477del (p.Arg1493fs) rs1889219103
NM_020937.4(FANCM):c.448C>T (p.Gln150Ter)
NM_020937.4(FANCM):c.4501C>T (p.Gln1501Ter)
NM_020937.4(FANCM):c.4504_4505del (p.His1503fs) rs1566775922
NM_020937.4(FANCM):c.4574_4575del (p.Tyr1525fs)
NM_020937.4(FANCM):c.4601C>A (p.Ser1534Ter) rs1594810556
NM_020937.4(FANCM):c.4634_4637delinsCAACTTTCCTCATTACTTGACTCAACATTACTTGACTCAACTCAACTC (p.Phe1545_Leu1546delinsSerThrPheLeuIleThrTer) rs1594810654
NM_020937.4(FANCM):c.4637T>G (p.Leu1546Ter)
NM_020937.4(FANCM):c.466C>T (p.Gln156Ter) rs1885521004
NM_020937.4(FANCM):c.4779+1del rs764534989
NM_020937.4(FANCM):c.4930C>T (p.Arg1644Ter)
NM_020937.4(FANCM):c.5048_5052del (p.Lys1683fs) rs1566782962
NM_020937.4(FANCM):c.5097_5100del (p.Lys1699fs)
NM_020937.4(FANCM):c.516dup (p.Gln173fs) rs2139106255
NM_020937.4(FANCM):c.5199_5200del (p.Gln1733fs)
NM_020937.4(FANCM):c.5201del (p.Thr1734fs) rs2139297782
NM_020937.4(FANCM):c.5269C>T (p.Gln1757Ter)
NM_020937.4(FANCM):c.52C>T (p.Arg18Ter)
NM_020937.4(FANCM):c.5315_5316del (p.Asp1771_Cys1772insTer) rs1566783809
NM_020937.4(FANCM):c.5364_5367dup (p.Thr1790Ter) rs1324635932
NM_020937.4(FANCM):c.5380del (p.Ser1794fs) rs1890046687
NM_020937.4(FANCM):c.538del (p.Ile180fs) rs2139106358
NM_020937.4(FANCM):c.5446A>T (p.Lys1816Ter) rs1594481199
NM_020937.4(FANCM):c.5476G>T (p.Glu1826Ter) rs1354153410
NM_020937.4(FANCM):c.547_548delinsCTTA (p.Ser183fs)
NM_020937.4(FANCM):c.5494_5495del (p.Glu1832fs) rs1566790465
NM_020937.4(FANCM):c.5530C>T (p.Gln1844Ter)
NM_020937.4(FANCM):c.567_568insGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGCAGACGGGAGAGGGAGAGGGAGACGGGAGCTTTTTTTGAGAGTGCTTTTTCTT (p.Thr190fs)
NM_020937.4(FANCM):c.5687_5688dup (p.Ile1897Ter)
NM_020937.4(FANCM):c.5707_5708del (p.Glu1903fs)
NM_020937.4(FANCM):c.5749_5750del (p.Ser1917fs) rs1203346034
NM_020937.4(FANCM):c.5766_5769del (p.Thr1923fs)
NM_020937.4(FANCM):c.5815G>T (p.Glu1939Ter)
NM_020937.4(FANCM):c.708_714del (p.Asn237fs) rs1885850135
NM_020937.4(FANCM):c.710del (p.Asn237fs) rs1340295590
NM_020937.4(FANCM):c.855del (p.Val286fs) rs2139151883
NM_020937.4(FANCM):c.865_881del (p.Lys288_Leu289insTer)
NM_020937.4(FANCM):c.901C>T (p.Gln301Ter)
NM_020937.4(FANCM):c.909_910del (p.Ile305fs) rs1886630094
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.