ClinVar Miner

List of variants studied for Neuronal ceroid lipofuscinosis 13 by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 92
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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.219T>C (p.Gly73=) rs1127894 0.62142
NM_003793.4(CTSF):c.762G>A (p.Arg254=) rs545009 0.61054
NM_003793.4(CTSF):c.126C>T (p.Pro42=) rs1044522 0.22541
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 0.00267
NM_003793.4(CTSF):c.676C>T (p.Arg226Cys) rs143313688 0.00259
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 0.00107
NM_003793.4(CTSF):c.45G>T (p.Pro15=) rs117792851 0.00050
NM_003793.4(CTSF):c.213+7A>T rs761072570 0.00045
NM_003793.4(CTSF):c.1407C>T (p.Ser469=) rs144556402 0.00044
NM_003793.4(CTSF):c.1315G>A (p.Gly439Ser) rs140795906 0.00028
NM_003793.4(CTSF):c.206T>G (p.Val69Gly) rs571179513 0.00028
NM_003793.4(CTSF):c.1314C>T (p.Tyr438=) rs149687246 0.00027
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.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.868-17C>G rs554536950 0.00011
NM_003793.4(CTSF):c.810C>T (p.Leu270=) rs147398226 0.00009
NM_003793.4(CTSF):c.1243G>A (p.Gly415Arg) rs200426008 0.00007
NM_003793.4(CTSF):c.1100A>G (p.Asn367Ser) rs201500574 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.133T>C (p.Phe45Leu) rs1332760939 0.00004
NM_003793.4(CTSF):c.613C>T (p.Arg205Trp) rs568250930 0.00004
NM_003793.4(CTSF):c.1026C>T (p.Tyr342=) rs762134997 0.00003
NM_003793.4(CTSF):c.1253G>A (p.Arg418His) rs141345438 0.00003
NM_003793.4(CTSF):c.450T>C (p.Ser150=) rs376744562 0.00003
NM_003793.4(CTSF):c.1230+14C>T rs759960583 0.00002
NM_003793.4(CTSF):c.1321+9C>T rs368422217 0.00002
NM_003793.4(CTSF):c.1028C>T (p.Ser343Leu) rs200646712 0.00001
NM_003793.4(CTSF):c.1166-7A>G rs1480417362 0.00001
NM_003793.4(CTSF):c.1198A>G (p.Ile400Val) rs780211076 0.00001
NM_003793.4(CTSF):c.1218C>T (p.Ala406=) rs758499333 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.473A>G (p.Asn158Ser) rs372121871 0.00001
NM_003793.4(CTSF):c.722-3C>A rs1857927546 0.00001
NM_003793.4(CTSF):c.722-4G>A rs780325681 0.00001
NM_003793.4(CTSF):c.933C>T (p.Asn311=) rs1424927546 0.00001
NM_003793.4(CTSF):c.956C>T (p.Ser319Phe) rs1857917060 0.00001
NM_003793.4(CTSF):c.1045+4T>G
NM_003793.4(CTSF):c.109C>G (p.Pro37Ala) rs1857985103
NM_003793.4(CTSF):c.1140C>G (p.Ser380=) rs143674429
NM_003793.4(CTSF):c.1231-13_1231-11del rs777763116
NM_003793.4(CTSF):c.1267C>T (p.Leu423Phe) rs1285792511
NM_003793.4(CTSF):c.1283T>C (p.Leu428Pro)
NM_003793.4(CTSF):c.1285A>G (p.Ile429Val) rs2495272227
NM_003793.4(CTSF):c.1296G>A (p.Ala432=) rs778969360
NM_003793.4(CTSF):c.1322-14G>A rs759434213
NM_003793.4(CTSF):c.1350del (p.Asn451fs) rs1565311637
NM_003793.4(CTSF):c.1380+13G>A rs1383853489
NM_003793.4(CTSF):c.1380+19del rs748349059
NM_003793.4(CTSF):c.15G>T (p.Leu5=)
NM_003793.4(CTSF):c.160C>A (p.Arg54=) rs776443007
NM_003793.4(CTSF):c.171G>C (p.Gly57=) rs1475211531
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.213+2T>A
NM_003793.4(CTSF):c.245_256del (p.Ala82_Glu85del) rs768598547
NM_003793.4(CTSF):c.258G>A (p.Glu86=) rs1485452186
NM_003793.4(CTSF):c.261A>G (p.Pro87=)
NM_003793.4(CTSF):c.269A>G (p.Asn90Ser)
NM_003793.4(CTSF):c.280G>A (p.Val94Met) rs2495284336
NM_003793.4(CTSF):c.329_347del (p.Val110fs)
NM_003793.4(CTSF):c.342C>G (p.Leu114=) rs1448143058
NM_003793.4(CTSF):c.42C>G (p.Leu14=) rs1565313940
NM_003793.4(CTSF):c.531+15G>C
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) rs1472278206
NM_003793.4(CTSF):c.664C>T (p.Gln222Ter) rs766762684
NM_003793.4(CTSF):c.76G>C (p.Ala26Pro) rs2495286470
NM_003793.4(CTSF):c.867+8C>T rs781540749
NM_003793.4(CTSF):c.888G>T (p.Trp296Cys) rs746013208
NM_003793.4(CTSF):c.955T>G (p.Ser319Ala) rs1857917135
NM_003793.4(CTSF):c.972G>A (p.Leu324=) rs749794934
NM_003793.4(CTSF):c.988G>A (p.Asp330Asn) rs750069810
NM_003793.4(CTSF):c.992del (p.Lys331fs) rs2495276170

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