ClinVar Miner

List of variants in gene FASN reported as uncertain significance for Epileptic encephalopathy

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Gene type:
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Total variants: 192
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HGVS dbSNP
NM_004104.5(FASN):c.1018G>T (p.Ala340Ser) rs1469173192
NM_004104.5(FASN):c.1024G>T (p.Ala342Ser)
NM_004104.5(FASN):c.1045G>A (p.Glu349Lys)
NM_004104.5(FASN):c.106G>A (p.Asp36Asn) rs754942049
NM_004104.5(FASN):c.1114G>A (p.Gly372Arg) rs1555668921
NM_004104.5(FASN):c.1118G>A (p.Arg373Gln)
NM_004104.5(FASN):c.1126G>T (p.Val376Leu)
NM_004104.5(FASN):c.1147G>A (p.Val383Ile) rs764001564
NM_004104.5(FASN):c.1213A>G (p.Arg405Gly)
NM_004104.5(FASN):c.1227G>C (p.Gln409His) rs202158849
NM_004104.5(FASN):c.1229C>T (p.Pro410Leu)
NM_004104.5(FASN):c.1237G>A (p.Ala413Thr) rs373548684
NM_004104.5(FASN):c.1244C>T (p.Ala415Val)
NM_004104.5(FASN):c.1274G>A (p.Arg425Gln)
NM_004104.5(FASN):c.128_130delinsATT (p.Gly43_Leu44delinsAspPhe) rs1555669729
NM_004104.5(FASN):c.1291C>T (p.Pro431Ser)
NM_004104.5(FASN):c.1300G>A (p.Val434Met)
NM_004104.5(FASN):c.1321G>A (p.Gly441Ser) rs1332913108
NM_004104.5(FASN):c.1346C>G (p.Ala449Gly) rs1025708321
NM_004104.5(FASN):c.1372G>A (p.Ala458Thr) rs146838277
NM_004104.5(FASN):c.1384G>A (p.Ala462Thr) rs141275719
NM_004104.5(FASN):c.1402C>T (p.Arg468Cys) rs1033326712
NM_004104.5(FASN):c.1403G>A (p.Arg468His)
NM_004104.5(FASN):c.1411G>A (p.Ala471Thr)
NM_004104.5(FASN):c.145C>T (p.Arg49Trp) rs774656123
NM_004104.5(FASN):c.1468C>T (p.Arg490Cys) rs533081221
NM_004104.5(FASN):c.1568C>T (p.Ser523Phe) rs1555668714
NM_004104.5(FASN):c.1570G>A (p.Asp524Asn) rs147394389
NM_004104.5(FASN):c.1577C>T (p.Ala526Val) rs1449518570
NM_004104.5(FASN):c.1579G>A (p.Val527Met)
NM_004104.5(FASN):c.1591G>A (p.Gly531Ser)
NM_004104.5(FASN):c.1604C>T (p.Ser535Leu)
NM_004104.5(FASN):c.1627G>A (p.Glu543Lys) rs202040392
NM_004104.5(FASN):c.1631G>A (p.Ser544Asn)
NM_004104.5(FASN):c.1669A>T (p.Thr557Ser)
NM_004104.5(FASN):c.1712G>A (p.Gly571Glu)
NM_004104.5(FASN):c.1789G>A (p.Glu597Lys)
NM_004104.5(FASN):c.1798G>A (p.Val600Ile)
NM_004104.5(FASN):c.1907C>T (p.Pro636Leu)
NM_004104.5(FASN):c.2026C>T (p.Arg676Trp) rs759454700
NM_004104.5(FASN):c.2064G>A (p.Glu688=) rs372165257
NM_004104.5(FASN):c.2101G>C (p.Val701Leu) rs201027447
NM_004104.5(FASN):c.2107C>T (p.Arg703Trp) rs768238548
NM_004104.5(FASN):c.2189C>T (p.Ser730Phe)
NM_004104.5(FASN):c.221C>T (p.Thr74Met)
NM_004104.5(FASN):c.2269G>A (p.Val757Met) rs1555668215
NM_004104.5(FASN):c.2304+3A>G rs1568113090
NM_004104.5(FASN):c.2311C>A (p.Leu771Met) rs202206277
NM_004104.5(FASN):c.2428G>A (p.Ala810Thr)
NM_004104.5(FASN):c.2449C>T (p.Pro817Ser)
NM_004104.5(FASN):c.2453C>G (p.Pro818Arg) rs774528608
NM_004104.5(FASN):c.2539G>A (p.Ala847Thr) rs762057164
NM_004104.5(FASN):c.2555A>G (p.Asn852Ser)
NM_004104.5(FASN):c.2593G>A (p.Asp865Asn) rs199546508
NM_004104.5(FASN):c.2605G>A (p.Glu869Lys)
NM_004104.5(FASN):c.2650G>A (p.Val884Ile) rs750385551
NM_004104.5(FASN):c.2704G>A (p.Ala902Thr) rs376556250
NM_004104.5(FASN):c.2722G>A (p.Glu908Lys)
NM_004104.5(FASN):c.2722G>C (p.Glu908Gln)
NM_004104.5(FASN):c.2825G>T (p.Arg942Leu)
NM_004104.5(FASN):c.2833G>A (p.Glu945Lys) rs1568112060
NM_004104.5(FASN):c.2916G>A (p.Pro972=)
NM_004104.5(FASN):c.2945C>T (p.Pro982Leu)
NM_004104.5(FASN):c.2957C>T (p.Ala986Val) rs750638732
NM_004104.5(FASN):c.2984G>A (p.Arg995His) rs376650647
NM_004104.5(FASN):c.3116T>C (p.Leu1039Pro)
NM_004104.5(FASN):c.3133G>A (p.Gly1045Ser)
NM_004104.5(FASN):c.3241A>G (p.Ser1081Gly)
NM_004104.5(FASN):c.329G>C (p.Gly110Ala) rs1401029858
NM_004104.5(FASN):c.3330G>C (p.Gln1110His) rs755685212
NM_004104.5(FASN):c.3345G>C (p.Glu1115Asp) rs1481274971
NM_004104.5(FASN):c.3361C>T (p.Pro1121Ser)
NM_004104.5(FASN):c.3511C>T (p.Arg1171Trp) rs754866865
NM_004104.5(FASN):c.3523C>A (p.Gln1175Lys)
NM_004104.5(FASN):c.3539G>A (p.Arg1180Gln)
NM_004104.5(FASN):c.3548C>T (p.Ser1183Leu)
NM_004104.5(FASN):c.3596C>T (p.Ala1199Val)
NM_004104.5(FASN):c.3597_3608del (p.Val1201_Gln1204del) rs1555667489
NM_004104.5(FASN):c.3623A>G (p.Lys1208Arg) rs761471160
NM_004104.5(FASN):c.3665C>G (p.Pro1222Arg)
NM_004104.5(FASN):c.3748G>A (p.Gly1250Ser)
NM_004104.5(FASN):c.3764G>A (p.Arg1255His) rs376976258
NM_004104.5(FASN):c.3794T>G (p.Leu1265Arg) rs1568110115
NM_004104.5(FASN):c.382G>A (p.Val128Met) rs146811868
NM_004104.5(FASN):c.3888G>T (p.Gln1296His) rs778370442
NM_004104.5(FASN):c.3898G>A (p.Ala1300Thr) rs746365737
NM_004104.5(FASN):c.4046G>A (p.Arg1349Gln)
NM_004104.5(FASN):c.4122+5G>A rs750312479
NM_004104.5(FASN):c.4138C>T (p.Leu1380Phe) rs769124217
NM_004104.5(FASN):c.4175A>G (p.Lys1392Arg)
NM_004104.5(FASN):c.4196C>T (p.Thr1399Met)
NM_004104.5(FASN):c.4223C>T (p.Pro1408Leu) rs1438367361
NM_004104.5(FASN):c.4303G>A (p.Glu1435Lys)
NM_004104.5(FASN):c.4308_4309CT[1] (p.Ser1437fs) rs1555667112
NM_004104.5(FASN):c.4337_4339del (p.Ile1446del) rs750351947
NM_004104.5(FASN):c.4343G>C (p.Cys1448Ser) rs1421575793
NM_004104.5(FASN):c.4382G>A (p.Arg1461His)
NM_004104.5(FASN):c.4385G>A (p.Arg1462Gln)
NM_004104.5(FASN):c.4393G>A (p.Gly1465Ser)
NM_004104.5(FASN):c.4429C>T (p.Leu1477Phe)
NM_004104.5(FASN):c.4466G>A (p.Gly1489Asp) rs368486805
NM_004104.5(FASN):c.4477C>G (p.Leu1493Val) rs1451796502
NM_004104.5(FASN):c.4522G>A (p.Asp1508Asn) rs375080347
NM_004104.5(FASN):c.4525G>A (p.Gly1509Arg)
NM_004104.5(FASN):c.4565-3_4565-1dup rs764277201
NM_004104.5(FASN):c.4606C>G (p.Leu1536Val)
NM_004104.5(FASN):c.4694C>T (p.Thr1565Met) rs1294023345
NM_004104.5(FASN):c.4933G>T (p.Ala1645Ser) rs1568108097
NM_004104.5(FASN):c.4981G>A (p.Val1661Met)
NM_004104.5(FASN):c.4993G>T (p.Val1665Leu) rs1270962378
NM_004104.5(FASN):c.4996C>T (p.Arg1666Cys) rs377037839
NM_004104.5(FASN):c.4997G>A (p.Arg1666His) rs571435935
NM_004104.5(FASN):c.5009C>T (p.Thr1670Met)
NM_004104.5(FASN):c.5031G>A (p.Ser1677=) rs373883359
NM_004104.5(FASN):c.5056G>A (p.Ala1686Thr) rs778912716
NM_004104.5(FASN):c.5062G>A (p.Ala1688Thr) rs368428251
NM_004104.5(FASN):c.5075G>A (p.Gly1692Asp)
NM_004104.5(FASN):c.5083G>A (p.Val1695Ile) rs111918281
NM_004104.5(FASN):c.5095G>C (p.Val1699Leu)
NM_004104.5(FASN):c.5103G>A (p.Ser1701=) rs752285807
NM_004104.5(FASN):c.5104G>C (p.Ala1702Pro)
NM_004104.5(FASN):c.5113C>T (p.Arg1705Trp)
NM_004104.5(FASN):c.5114G>A (p.Arg1705Gln) rs534878599
NM_004104.5(FASN):c.5117C>T (p.Ala1706Val)
NM_004104.5(FASN):c.5140C>G (p.Gln1714Glu)
NM_004104.5(FASN):c.5177C>T (p.Thr1726Ile) rs1206712630
NM_004104.5(FASN):c.5269G>A (p.Val1757Met)
NM_004104.5(FASN):c.5335C>G (p.Pro1779Ala) rs753834341
NM_004104.5(FASN):c.5341G>A (p.Gly1781Ser) rs373722639
NM_004104.5(FASN):c.53A>G (p.Asn18Ser) rs1555669844
NM_004104.5(FASN):c.5404G>A (p.Glu1802Lys) rs764921764
NM_004104.5(FASN):c.5417A>G (p.Asp1806Gly)
NM_004104.5(FASN):c.5456G>A (p.Arg1819Gln)
NM_004104.5(FASN):c.5456G>T (p.Arg1819Leu) rs200377258
NM_004104.5(FASN):c.5495A>G (p.His1832Arg) rs559153593
NM_004104.5(FASN):c.5527A>G (p.Met1843Val)
NM_004104.5(FASN):c.555G>A (p.Val185=) rs556347422
NM_004104.5(FASN):c.5573C>A (p.Ala1858Glu)
NM_004104.5(FASN):c.5573C>T (p.Ala1858Val) rs376946680
NM_004104.5(FASN):c.5576A>G (p.Glu1859Gly)
NM_004104.5(FASN):c.5591T>C (p.Val1864Ala)
NM_004104.5(FASN):c.5648C>T (p.Ala1883Val)
NM_004104.5(FASN):c.5668G>A (p.Ala1890Thr)
NM_004104.5(FASN):c.5789G>A (p.Arg1930His)
NM_004104.5(FASN):c.5791C>T (p.Arg1931Trp)
NM_004104.5(FASN):c.5801G>A (p.Arg1934His) rs200897153
NM_004104.5(FASN):c.5858G>A (p.Arg1953Gln) rs17848946
NM_004104.5(FASN):c.592G>A (p.Val198Met)
NM_004104.5(FASN):c.5953C>T (p.Pro1985Ser)
NM_004104.5(FASN):c.605G>T (p.Arg202Met)
NM_004104.5(FASN):c.6086C>T (p.Ala2029Val) rs139545909
NM_004104.5(FASN):c.6118G>A (p.Ala2040Thr) rs150748779
NM_004104.5(FASN):c.6145C>T (p.Arg2049Trp)
NM_004104.5(FASN):c.6155G>C (p.Gly2052Ala)
NM_004104.5(FASN):c.6172G>A (p.Val2058Met) rs752767411
NM_004104.5(FASN):c.6218T>C (p.Met2073Thr)
NM_004104.5(FASN):c.6229G>A (p.Asp2077Asn) rs141935205
NM_004104.5(FASN):c.6238G>A (p.Val2080Ile) rs766446511
NM_004104.5(FASN):c.625G>C (p.Glu209Gln) rs1231782441
NM_004104.5(FASN):c.6307C>T (p.His2103Tyr) rs200347376
NM_004104.5(FASN):c.6492G>C (p.Gln2164His) rs1568104948
NM_004104.5(FASN):c.6494C>T (p.Thr2165Met)
NM_004104.5(FASN):c.6534G>A (p.Glu2178=)
NM_004104.5(FASN):c.6539G>A (p.Arg2180Gln)
NM_004104.5(FASN):c.654G>A (p.Ala218=)
NM_004104.5(FASN):c.655+3G>T rs767012490
NM_004104.5(FASN):c.6553C>T (p.Arg2185Trp)
NM_004104.5(FASN):c.6563A>G (p.Gln2188Arg)
NM_004104.5(FASN):c.6595+4C>T
NM_004104.5(FASN):c.6638A>G (p.Gln2213Arg)
NM_004104.5(FASN):c.6662C>T (p.Ser2221Phe)
NM_004104.5(FASN):c.6678G>A (p.Pro2226=)
NM_004104.5(FASN):c.6788G>A (p.Arg2263Gln)
NM_004104.5(FASN):c.6824G>A (p.Arg2275Gln) rs758520407
NM_004104.5(FASN):c.6977G>A (p.Ser2326Asn) rs1555665608
NM_004104.5(FASN):c.7229G>A (p.Gly2410Asp)
NM_004104.5(FASN):c.7349C>T (p.Thr2450Met)
NM_004104.5(FASN):c.7357G>A (p.Ala2453Thr) rs148372886
NM_004104.5(FASN):c.7378G>A (p.Ala2460Thr) rs149224679
NM_004104.5(FASN):c.7398+4C>G
NM_004104.5(FASN):c.7399G>A (p.Val2467Ile)
NM_004104.5(FASN):c.7432G>A (p.Glu2478Lys) rs747059037
NM_004104.5(FASN):c.778+6C>T rs747631706
NM_004104.5(FASN):c.820C>T (p.Arg274Cys) rs562846615
NM_004104.5(FASN):c.832C>A (p.Gln278Lys)
NM_004104.5(FASN):c.836C>T (p.Ser279Leu)
NM_004104.5(FASN):c.841G>A (p.Gly281Arg) rs748571162
NM_004104.5(FASN):c.856T>A (p.Ser286Thr) rs749367001
NM_004104.5(FASN):c.882C>T (p.Gly294=) rs1249647390
NM_004104.5(FASN):c.895-6C>G
NM_004104.5(FASN):c.902A>G (p.Asp301Gly) rs1568116566
NM_004104.5(FASN):c.94A>G (p.Met32Val) rs771149670

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