List of variants in gene CTSF studied for neuronal ceroid lipofuscinosis

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: 122

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HGVS	dbSNP	gnomAD frequency
NM_003793.4(CTSF):c.1401T>C (p.Arg467=)	rs572846	0.62182
NM_003793.4(CTSF):c.762G>A (p.Arg254=)	rs545009	0.62158
NM_003793.4(CTSF):c.219T>C (p.Gly73=)	rs1127894	0.62142
NM_003793.4(CTSF):c.126C>T (p.Pro42=)	rs1044522	0.22868
NM_003793.4(CTSF):c.722-5C>T	rs78871927	0.06870
NM_003793.4(CTSF):c.418G>A (p.Ala140Thr)	rs79274952	0.01384
NM_003793.4(CTSF):c.1322-19G>A	rs73505406	0.00770
NM_003793.4(CTSF):c.1368C>T (p.Asp456=)	rs148155987	0.00759
NM_003793.4(CTSF):c.939G>A (p.Gly313=)	rs114727660	0.00758
NM_003793.4(CTSF):c.1261C>T (p.Arg421Trp)	rs28464796	0.00735
NM_003793.4(CTSF):c.1158C>T (p.Asn386=)	rs116329758	0.00447
NM_003793.4(CTSF):c.458A>G (p.Gln153Arg)	rs11550508	0.00311
NM_003793.4(CTSF):c.1231-13T>C	rs199830949	0.00298
NM_003793.4(CTSF):c.676C>T (p.Arg226Cys)	rs143313688	0.00277
NM_003793.4(CTSF):c.130C>T (p.Arg44Cys)	rs573483617	0.00221
NM_003793.4(CTSF):c.1321C>T (p.Arg441Cys)	rs150922871	0.00177
NM_003793.4(CTSF):c.683C>G (p.Thr228Arg)	rs148611356	0.00105
NM_003793.4(CTSF):c.213+7A>T	rs761072570	0.00050
NM_003793.4(CTSF):c.1407C>T (p.Ser469=)	rs144556402	0.00039
NM_003793.4(CTSF):c.1315G>A (p.Gly439Ser)	rs140795906	0.00028
NM_003793.4(CTSF):c.214-6C>T	rs376579629	0.00026
NM_003793.4(CTSF):c.1046-2A>C	rs141915593	0.00025
NM_003793.4(CTSF):c.45G>T (p.Pro15=)	rs117792851	0.00020
NM_003793.4(CTSF):c.19C>T (p.Leu7Phe)	rs544669445	0.00019
NM_003793.4(CTSF):c.1203C>T (p.Ser401=)	rs139027846	0.00016
NM_003793.4(CTSF):c.780G>A (p.Lys260=)	rs140002533	0.00012
NM_003793.4(CTSF):c.597G>A (p.Glu199=)	rs200932066	0.00011
NM_003793.4(CTSF):c.810C>T (p.Leu270=)	rs147398226	0.00009
NM_003793.4(CTSF):c.868-17C>G	rs554536950	0.00009
NM_003793.4(CTSF):c.692A>G (p.Tyr231Cys)	rs143889283	0.00008
NM_003793.4(CTSF):c.1100A>G (p.Asn367Ser)	rs201500574	0.00006
NM_003793.4(CTSF):c.1243G>A (p.Gly415Arg)	rs200426008	0.00006
NM_003793.4(CTSF):c.1237C>T (p.Arg413Cys)	rs779164010	0.00005
NM_003793.4(CTSF):c.351C>T (p.His117=)	rs112809338	0.00005
NM_003793.4(CTSF):c.1026C>T (p.Tyr342=)	rs762134997	0.00004
NM_003793.4(CTSF):c.1218C>T (p.Ala406=)	rs758499333	0.00003
NM_003793.4(CTSF):c.1253G>A (p.Arg418His)	rs141345438	0.00003
NM_003793.4(CTSF):c.613C>T (p.Arg205Trp)	rs568250930	0.00003
NM_003793.4(CTSF):c.954del (p.Ser319fs)	rs753084727	0.00003
NM_003793.4(CTSF):c.1230+14C>T	rs759960583	0.00002
NM_003793.4(CTSF):c.587G>A (p.Arg196Gln)	rs143814748	0.00002
NM_003793.4(CTSF):c.1028C>T (p.Ser343Leu)	rs200646712	0.00001
NM_003793.4(CTSF):c.1045+1G>T	rs1456291681	0.00001
NM_003793.4(CTSF):c.213+20G>A	rs1046921955	0.00001
NM_003793.4(CTSF):c.246C>A (p.Ala82=)	rs756262196	0.00001
NM_003793.4(CTSF):c.722-3C>A	rs1857927546	0.00001
NM_003793.4(CTSF):c.1045+4T>G
NM_003793.4(CTSF):c.105_129del (p.Ser36fs)
NM_003793.4(CTSF):c.1069T>C (p.Tyr357His)
NM_003793.4(CTSF):c.109C>G (p.Pro37Ala)
NM_003793.4(CTSF):c.1119dup (p.Lys374fs)
NM_003793.4(CTSF):c.1140C>G (p.Ser380=)	rs143674429
NM_003793.4(CTSF):c.1165+2T>G
NM_003793.4(CTSF):c.1166-7A>G
NM_003793.4(CTSF):c.1171del (p.Ala391fs)
NM_003793.4(CTSF):c.1175C>T (p.Ala392Val)
NM_003793.4(CTSF):c.1198A>G (p.Ile400Val)
NM_003793.4(CTSF):c.1211T>C (p.Ile404Thr)
NM_003793.4(CTSF):c.1231-13_1231-11del
NM_003793.4(CTSF):c.1247T>C (p.Ile416Thr)	rs1565311875
NM_003793.4(CTSF):c.1267C>T (p.Leu423Phe)
NM_003793.4(CTSF):c.1267_1277dup (p.Trp427fs)
NM_003793.4(CTSF):c.1283T>C (p.Leu428Pro)
NM_003793.4(CTSF):c.1285A>G (p.Ile429Val)
NM_003793.4(CTSF):c.1296G>A (p.Ala432=)
NM_003793.4(CTSF):c.130del (p.Arg44fs)	rs1857984449
NM_003793.4(CTSF):c.1314C>T (p.Tyr438=)
NM_003793.4(CTSF):c.1316del (p.Gly439fs)
NM_003793.4(CTSF):c.1321+9C>T
NM_003793.4(CTSF):c.1322-14G>A
NM_003793.4(CTSF):c.133T>C (p.Phe45Leu)
NM_003793.4(CTSF):c.1350del (p.Asn451fs)	rs1565311637
NM_003793.4(CTSF):c.1373G>C (p.Gly458Ala)	rs397514732
NM_003793.4(CTSF):c.1380+13G>A
NM_003793.4(CTSF):c.1380+19del
NM_003793.4(CTSF):c.1399C>T (p.Arg467Cys)
NM_003793.4(CTSF):c.1439C>T (p.Ser480Leu)	rs397514733
NM_003793.4(CTSF):c.15G>T (p.Leu5=)
NM_003793.4(CTSF):c.160C>A (p.Arg54=)	rs776443007
NM_003793.4(CTSF):c.167_186del (p.Ala56fs)
NM_003793.4(CTSF):c.171G>C (p.Gly57=)
NM_003793.4(CTSF):c.186G>A (p.Leu62=)
NM_003793.4(CTSF):c.200_205dup (p.Gly67_Arg68dup)	rs772656687
NM_003793.4(CTSF):c.206T>G (p.Val69Gly)
NM_003793.4(CTSF):c.213+1G>C	rs797045136
NM_003793.4(CTSF):c.213+2T>A
NM_003793.4(CTSF):c.245_256del (p.Ala82_Glu85del)
NM_003793.4(CTSF):c.258G>A (p.Glu86=)
NM_003793.4(CTSF):c.261A>G (p.Pro87=)
NM_003793.4(CTSF):c.264del (p.Cys89fs)
NM_003793.4(CTSF):c.269A>G (p.Asn90Ser)
NM_003793.4(CTSF):c.280G>A (p.Val94Met)
NM_003793.4(CTSF):c.329_347del (p.Val110fs)
NM_003793.4(CTSF):c.342C>G (p.Leu114=)
NM_003793.4(CTSF):c.42C>G (p.Leu14=)
NM_003793.4(CTSF):c.450T>C (p.Ser150=)
NM_003793.4(CTSF):c.473A>G (p.Asn158Ser)
NM_003793.4(CTSF):c.530_531+11del	rs2134954887
NM_003793.4(CTSF):c.531+15G>C
NM_003793.4(CTSF):c.593_594del (p.Thr197_Tyr198insTer)
NM_003793.4(CTSF):c.594T>A (p.Tyr198Ter)	rs758004789
NM_003793.4(CTSF):c.614G>A (p.Arg205Gln)	rs142782021
NM_003793.4(CTSF):c.614G>T (p.Arg205Leu)	rs142782021
NM_003793.4(CTSF):c.64G>T (p.Ala22Ser)
NM_003793.4(CTSF):c.664C>T (p.Gln222Ter)
NM_003793.4(CTSF):c.722-4G>A
NM_003793.4(CTSF):c.76G>C (p.Ala26Pro)
NM_003793.4(CTSF):c.843_844del (p.Ala282fs)	rs1555058286
NM_003793.4(CTSF):c.867+8C>T
NM_003793.4(CTSF):c.888G>T (p.Trp296Cys)
NM_003793.4(CTSF):c.933C>T (p.Asn311=)
NM_003793.4(CTSF):c.934C>T (p.Gln312Ter)
NM_003793.4(CTSF):c.955T>G (p.Ser319Ala)	rs1857917135
NM_003793.4(CTSF):c.956C>T (p.Ser319Phe)
NM_003793.4(CTSF):c.95G>A (p.Trp32Ter)
NM_003793.4(CTSF):c.962A>G (p.Gln321Arg)	rs397514731
NM_003793.4(CTSF):c.965-1G>A
NM_003793.4(CTSF):c.971T>C (p.Leu324Ser)
NM_003793.4(CTSF):c.972G>A (p.Leu324=)
NM_003793.4(CTSF):c.988G>A (p.Asp330Asn)	rs750069810
NM_003793.4(CTSF):c.992del (p.Lys331fs)
NM_003793.4(CTSF):c.993_1004delinsTGCCTACT (p.Lys331fs)	rs2134951897

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