ClinVar Miner

List of variants in gene FASN reported as benign for Epileptic encephalopathy

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Total variants: 115
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HGVS dbSNP gnomAD frequency
NM_004104.5(FASN):c.6595+12T>C rs4246445 0.75191
NM_004104.5(FASN):c.567T>C (p.Asn189=) rs2228309 0.51627
NM_004104.5(FASN):c.4122+9G>A rs17848939 0.50492
NM_004104.5(FASN):c.6402C>T (p.Ile2134=) rs1140616 0.40532
NM_004104.5(FASN):c.3741T>C (p.Ala1247=) rs2229422 0.29215
NM_004104.5(FASN):c.3224-18C>T rs17848935 0.14656
NM_004104.5(FASN):c.3651C>T (p.Gly1217=) rs41283365 0.13095
NM_004104.5(FASN):c.4288-12G>C rs45573640 0.11218
NM_004104.5(FASN):c.5268C>T (p.Ser1756=) rs2229425 0.10440
NM_004104.5(FASN):c.4447G>A (p.Val1483Ile) rs2228305 0.04451
NM_004104.5(FASN):c.5662A>G (p.Ile1888Val) rs2228307 0.02870
NM_004104.5(FASN):c.6012-10G>A rs45491595 0.02531
NM_004104.5(FASN):c.6014T>C (p.Val2005Ala) rs2228306 0.02379
NM_004104.5(FASN):c.1493-16G>A rs17848927 0.02235
NM_004104.5(FASN):c.6164-8C>G rs76966965 0.02174
NM_004104.5(FASN):c.1968C>T (p.Ala656=) rs45540245 0.01801
NM_004104.5(FASN):c.4578G>A (p.Glu1526=) rs45483502 0.01775
NM_004104.5(FASN):c.2187G>A (p.Thr729=) rs17848930 0.01630
NM_004104.5(FASN):c.4768+20G>A rs45568433 0.01034
NM_004104.5(FASN):c.3682C>T (p.Leu1228=) rs146800506 0.00997
NM_004104.5(FASN):c.4287+12C>A rs45555734 0.00987
NM_004104.5(FASN):c.4188C>T (p.Tyr1396=) rs45506801 0.00955
NM_004104.5(FASN):c.5336C>T (p.Pro1779Leu) rs2229426 0.00914
NM_004104.5(FASN):c.2786-14C>T rs45457693 0.00883
NM_004104.5(FASN):c.2937C>T (p.Pro979=) rs62642479 0.00846
NM_004104.5(FASN):c.6554G>A (p.Arg2185Gln) rs45507397 0.00835
NM_004104.5(FASN):c.747C>T (p.Ala249=) rs115212667 0.00699
NM_004104.5(FASN):c.5337G>A (p.Pro1779=) rs115708196 0.00666
NM_004104.5(FASN):c.4617G>C (p.Gly1539=) rs143566258 0.00654
NM_004104.5(FASN):c.5535A>G (p.Gln1845=) rs2229421 0.00639
NM_004104.5(FASN):c.624C>T (p.Pro208=) rs45624241 0.00623
NM_004104.5(FASN):c.6406+12C>T rs148201644 0.00616
NM_004104.5(FASN):c.2815G>A (p.Glu939Lys) rs142371324 0.00581
NM_004104.5(FASN):c.3306C>G (p.Ala1102=) rs34179714 0.00556
NM_004104.5(FASN):c.2155G>A (p.Glu719Lys) rs12946178 0.00551
NM_004104.5(FASN):c.5872G>A (p.Glu1958Lys) rs145688025 0.00464
NM_004104.5(FASN):c.1436G>T (p.Gly479Val) rs149982597 0.00458
NM_004104.5(FASN):c.778+13G>A rs200103350 0.00446
NM_004104.5(FASN):c.6011+13C>T rs139527766 0.00410
NM_004104.5(FASN):c.4999C>T (p.Pro1667Ser) rs45557233 0.00406
NM_004104.5(FASN):c.6374G>A (p.Arg2125Gln) rs145866788 0.00359
NM_004104.5(FASN):c.3186C>T (p.His1062=) rs45493497 0.00266
NM_004104.5(FASN):c.6163+12C>T rs201811014 0.00266
NM_004104.5(FASN):c.3669A>C (p.Ala1223=) rs45444299 0.00245
NM_004104.5(FASN):c.6118G>T (p.Ala2040Ser) rs150748779 0.00243
NM_004104.5(FASN):c.5259G>A (p.Leu1753=) rs75603975 0.00207
NM_004104.5(FASN):c.3733-11A>T rs150698814 0.00177
NM_004104.5(FASN):c.1680+16C>G rs184683361 0.00168
NM_004104.5(FASN):c.6765C>T (p.Thr2255=) rs148481729 0.00153
NM_004104.5(FASN):c.3974C>T (p.Pro1325Leu) rs150915750 0.00142
NM_004104.5(FASN):c.3636C>T (p.Asp1212=) rs144326994 0.00139
NM_004104.5(FASN):c.1465G>A (p.Glu489Lys) rs62642482 0.00133
NM_004104.5(FASN):c.5412T>A (p.Ser1804Arg) rs140221463 0.00128
NM_004104.5(FASN):c.3555C>G (p.Ala1185=) rs142613672 0.00110
NM_004104.5(FASN):c.2034C>T (p.Gly678=) rs148923081 0.00093
NM_004104.5(FASN):c.4896C>T (p.Phe1632=) rs138021448 0.00078
NM_004104.5(FASN):c.6477C>T (p.Ser2159=) rs146570982 0.00073
NM_004104.5(FASN):c.3498G>A (p.Gly1166=) rs140860714 0.00069
NM_004104.5(FASN):c.4288-13C>T rs377452849 0.00068
NM_004104.5(FASN):c.2593+14C>T rs145899336 0.00066
NM_004104.5(FASN):c.552C>T (p.Ile184=) rs143728093 0.00065
NM_004104.5(FASN):c.5034C>T (p.Gly1678=) rs371830816 0.00064
NM_004104.5(FASN):c.1224G>A (p.Thr408=) rs143838160 0.00062
NM_004104.5(FASN):c.2721C>T (p.Val907=) rs140477777 0.00062
NM_004104.5(FASN):c.7362C>T (p.Tyr2454=) rs143407765 0.00062
NM_004104.5(FASN):c.2265C>T (p.His755=) rs114850100 0.00053
NM_004104.5(FASN):c.4455G>A (p.Glu1485=) rs181585755 0.00050
NM_004104.5(FASN):c.591C>T (p.Ser197=) rs141843553 0.00044
NM_004104.5(FASN):c.2757G>A (p.Leu919=) rs147904451 0.00040
NM_004104.5(FASN):c.1851G>A (p.Pro617=) rs766299074 0.00036
NM_004104.5(FASN):c.2120C>T (p.Pro707Leu) rs144627566 0.00036
NM_004104.5(FASN):c.5809G>A (p.Val1937Ile) rs17848945 0.00034
NM_004104.5(FASN):c.694C>T (p.Leu232=) rs143618212 0.00034
NM_004104.5(FASN):c.1455G>A (p.Val485=) rs190389710 0.00031
NM_004104.5(FASN):c.4971C>T (p.Tyr1657=) rs372288947 0.00031
NM_004104.5(FASN):c.5341+8C>T rs371663784 0.00030
NM_004104.5(FASN):c.1840C>T (p.His614Tyr) rs140698052 0.00028
NM_004104.5(FASN):c.1230G>A (p.Pro410=) rs376870564 0.00021
NM_004104.5(FASN):c.3829C>G (p.Pro1277Ala) rs764159372 0.00021
NM_004104.5(FASN):c.1236C>T (p.Pro412=) rs558030339 0.00020
NM_004104.5(FASN):c.4768+19C>T rs200668722 0.00016
NM_004104.5(FASN):c.5001C>T (p.Pro1667=) rs368052188 0.00016
NM_004104.5(FASN):c.5767+9G>A rs140072817 0.00016
NM_004104.5(FASN):c.5049C>T (p.Ala1683=) rs150176506 0.00014
NM_004104.5(FASN):c.5556C>T (p.Val1852=) rs545998778 0.00014
NM_004104.5(FASN):c.5768-4G>A rs369059351 0.00013
NM_004104.5(FASN):c.966C>T (p.Ile322=) rs200366210 0.00013
NM_004104.5(FASN):c.2866+13G>A rs562022806 0.00011
NM_004104.5(FASN):c.5566-5C>T rs202158422 0.00011
NM_004104.5(FASN):c.6707C>T (p.Ser2236Phe) rs201913904 0.00010
NM_004104.5(FASN):c.48G>A (p.Ser16=) rs766051789 0.00009
NM_004104.5(FASN):c.3931G>A (p.Asp1311Asn) rs574581617 0.00008
NM_004104.5(FASN):c.4128G>A (p.Ala1376=) rs201599707 0.00008
NM_004104.5(FASN):c.463A>G (p.Ile155Val) rs548430047 0.00007
NM_004104.5(FASN):c.5565+10G>A rs199564814 0.00006
NM_004104.5(FASN):c.5880G>A (p.Ala1960=) rs376643581 0.00006
NM_004104.5(FASN):c.779-5C>T rs199949654 0.00006
NM_004104.5(FASN):c.1686C>T (p.Gly562=) rs757340305 0.00005
NM_004104.5(FASN):c.2649C>T (p.Arg883=) rs200281530 0.00004
NM_004104.5(FASN):c.3427+8C>T rs565758653 0.00004
NM_004104.5(FASN):c.4344T>C (p.Cys1448=) rs376432461 0.00004
NM_004104.5(FASN):c.5658C>T (p.Ser1886=) rs200920340 0.00004
NM_004104.5(FASN):c.1431C>T (p.Arg477=) rs567264906 0.00003
NM_004104.5(FASN):c.4919+7G>A rs143419550 0.00002
NM_004104.5(FASN):c.5343C>T (p.Gly1781=) rs537230229 0.00002
NM_004104.5(FASN):c.2640C>T (p.Leu880=) rs570039207 0.00001
NM_004104.5(FASN):c.2785+14del
NM_004104.5(FASN):c.3267C>G (p.Ala1089=) rs4485435
NM_004104.5(FASN):c.3645C>G (p.Leu1215=) rs143299307
NM_004104.5(FASN):c.6012-12G>C rs9898060
NM_004104.5(FASN):c.6163+9del rs1479842860
NM_004104.5(FASN):c.894+16_894+18del rs10591316
NM_004104.5(FASN):c.894+17_894+18del rs10591316
NM_004104.5(FASN):c.894+18del rs10591316
NM_004104.5(FASN):c.894+8C>A rs759051221

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