List of variants in gene FUS studied for Inborn genetic diseases

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 99

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HGVS	dbSNP	gnomAD frequency
NM_004960.4(FUS):c.636C>T (p.Asp212=)	rs147528034	0.00282
NM_004960.4(FUS):c.273C>T (p.Tyr91=)	rs73530286	0.00196
NM_004960.4(FUS):c.675C>T (p.Gly225=)	rs140003720	0.00179
NM_004960.4(FUS):c.1566G>A (p.Arg522=)	rs138901914	0.00095
NM_004960.4(FUS):c.1464C>T (p.Gly488=)	rs150529460	0.00075
NM_004960.4(FUS):c.198T>C (p.Tyr66=)	rs144853447	0.00056
NM_004960.4(FUS):c.684C>T (p.Gly228=)	rs151073460	0.00034
NM_004960.4(FUS):c.188A>G (p.Asn63Ser)	rs140883211	0.00033
NM_004960.4(FUS):c.47C>T (p.Ala16Val)	rs139980267	0.00032
NM_004960.4(FUS):c.1080C>T (p.Ser360=)	rs190724342	0.00022
NM_004960.4(FUS):c.1292C>T (p.Pro431Leu)	rs186547381	0.00016
NM_004960.4(FUS):c.132C>T (p.Ser44=)	rs72550883	0.00015
NM_004960.4(FUS):c.1067-6C>T	rs77813265	0.00014
NM_004960.4(FUS):c.687T>C (p.Gly229=)	rs781445592	0.00014
NM_004960.4(FUS):c.661_663del (p.Ser221del)	rs746633090	0.00010
NM_004960.4(FUS):c.222A>G (p.Gly74=)	rs757454595	0.00009
NM_004960.4(FUS):c.339C>T (p.Tyr113=)	rs770345118	0.00008
NM_004960.4(FUS):c.66G>A (p.Gly22=)	rs147877613	0.00006
NM_004960.4(FUS):c.1176G>A (p.Met392Ile)	rs751937417	0.00005
NM_004960.4(FUS):c.1248C>T (p.Gly416=)	rs368780804	0.00005
NM_004960.4(FUS):c.484A>C (p.Asn162His)	rs200264565	0.00004
NM_004960.4(FUS):c.676G>A (p.Gly226Ser)	rs758970940	0.00004
NM_004960.4(FUS):c.300T>C (p.Tyr100=)	rs376424892	0.00003
NM_004960.4(FUS):c.452C>T (p.Pro151Leu)	rs144342946	0.00003
NM_004960.4(FUS):c.1204_1206del (p.Ser402del)	rs781120756	0.00002
NM_004960.4(FUS):c.1452C>T (p.Tyr484=)	rs372721739	0.00002
NM_004960.4(FUS):c.238G>A (p.Gly80Ser)	rs776474571	0.00002
NM_004960.4(FUS):c.443G>C (p.Ser148Thr)	rs773655049	0.00002
NM_004960.4(FUS):c.90T>C (p.Ser30=)	rs1485377976	0.00002
NM_004960.4(FUS):c.1493G>A (p.Arg498Gln)	rs781554309	0.00001
NM_004960.4(FUS):c.375C>G (p.Pro125=)	rs368148475	0.00001
NM_004960.4(FUS):c.455C>T (p.Pro152Leu)	rs767906231	0.00001
NM_004960.4(FUS):c.951G>A (p.Thr317=)	rs771216742	0.00001
NM_004960.3(FUS):c.515_523+3del
NM_004960.4(FUS):c.*132C>A	rs565540429
NM_004960.4(FUS):c.1033C>T (p.Pro345Ser)
NM_004960.4(FUS):c.1079C>T (p.Ser360Phe)
NM_004960.4(FUS):c.1168+6dup
NM_004960.4(FUS):c.1190A>G (p.Tyr397Cys)
NM_004960.4(FUS):c.119G>C (p.Gly40Ala)
NM_004960.4(FUS):c.1268C>T (p.Ala423Val)
NM_004960.4(FUS):c.1317T>C (p.Ser439=)	rs377010944
NM_004960.4(FUS):c.1317T>G (p.Ser439=)
NM_004960.4(FUS):c.1377A>T (p.Pro459=)
NM_004960.4(FUS):c.1385C>T (p.Ser462Phe)
NM_004960.4(FUS):c.1394-4C>G
NM_004960.4(FUS):c.1396G>A (p.Gly466Ser)
NM_004960.4(FUS):c.1414C>T (p.Arg472Cys)	rs914056789
NM_004960.4(FUS):c.1417C>T (p.Arg473Cys)
NM_004960.4(FUS):c.1418G>A (p.Arg473His)
NM_004960.4(FUS):c.1453C>T (p.Arg485Trp)
NM_004960.4(FUS):c.1462G>A (p.Gly488Ser)
NM_004960.4(FUS):c.1474G>A (p.Gly492Arg)
NM_004960.4(FUS):c.1485A>T (p.Arg495=)
NM_004960.4(FUS):c.1492C>G (p.Arg498Gly)
NM_004960.4(FUS):c.1498G>A (p.Gly500Ser)
NM_004960.4(FUS):c.1504del (p.Asp502fs)	rs1161032867
NM_004960.4(FUS):c.1513G>T (p.Gly505Cys)
NM_004960.4(FUS):c.1542-4G>T
NM_004960.4(FUS):c.1543G>A (p.Gly515Ser)
NM_004960.4(FUS):c.161G>A (p.Ser54Asn)
NM_004960.4(FUS):c.164A>G (p.Tyr55Cys)
NM_004960.4(FUS):c.167CTT[1] (p.Ser57del)	rs777545405
NM_004960.4(FUS):c.191-1G>A
NM_004960.4(FUS):c.236G>A (p.Gly79Asp)
NM_004960.4(FUS):c.267G>A (p.Ser89=)
NM_004960.4(FUS):c.336-3T>C
NM_004960.4(FUS):c.353A>G (p.Gln118Arg)
NM_004960.4(FUS):c.408T>C (p.Tyr136=)
NM_004960.4(FUS):c.412GGACAGCAGCAAAGCTAT[1] (p.138GQQQSY[1])	rs747579808
NM_004960.4(FUS):c.429T>C (p.Tyr143=)
NM_004960.4(FUS):c.454C>T (p.Pro152Ser)
NM_004960.4(FUS):c.462C>T (p.Gly154=)
NM_004960.4(FUS):c.485A>G (p.Asn162Ser)
NM_004960.4(FUS):c.532G>A (p.Gly178Ser)
NM_004960.4(FUS):c.587A>G (p.Asn196Ser)
NM_004960.4(FUS):c.613_621del (p.Ser205_Gly207del)
NM_004960.4(FUS):c.637C>T (p.Arg213Cys)
NM_004960.4(FUS):c.649G>A (p.Gly217Ser)
NM_004960.4(FUS):c.656G>T (p.Gly219Val)
NM_004960.4(FUS):c.663TGG[3] (p.Gly231_Tyr232insGly)
NM_004960.4(FUS):c.669CGG[3] (p.Gly229_Gly231del)	rs72550890
NM_004960.4(FUS):c.669CGG[4] (p.Gly230_Gly231del)	rs72550890
NM_004960.4(FUS):c.669CGG[5] (p.Gly231del)	rs72550890
NM_004960.4(FUS):c.669CGG[8] (p.Gly230_Gly231dup)	rs72550890
NM_004960.4(FUS):c.669CGG[9] (p.Gly229_Gly231dup)	rs72550890
NM_004960.4(FUS):c.681C>T (p.Gly227=)
NM_004960.4(FUS):c.681_689del (p.Gly229_Gly231del)	rs767564995
NM_004960.4(FUS):c.685GGT[2] (p.Gly231del)
NM_004960.4(FUS):c.685GGT[6] (p.Gly229_Gly231dup)	rs757651881
NM_004960.4(FUS):c.696C>T (p.Tyr232=)
NM_004960.4(FUS):c.736G>T (p.Gly246Cys)
NM_004960.4(FUS):c.74A>C (p.Tyr25Ser)
NM_004960.4(FUS):c.763G>T (p.Gly255Cys)
NM_004960.4(FUS):c.764+1del
NM_004960.4(FUS):c.765-4C>T
NM_004960.4(FUS):c.805C>T (p.Arg269Trp)
NM_004960.4(FUS):c.831C>T (p.Ser277=)
NM_004960.4(FUS):c.833-6A>G

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