ClinVar Miner

List of variants reported as likely pathogenic for Neuronal ceroid lipofuscinosis by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_017882.3(CLN6):c.445C>T (p.Arg149Cys) rs747229909 0.00006
NM_001909.5(CTSD):c.299C>T (p.Ser100Phe) rs796052407 0.00004
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser) rs764571295 0.00003
NM_018941.4(CLN8):c.470A>G (p.His157Arg) rs149308952 0.00003
NM_001042432.2(CLN3):c.175G>A (p.Ala59Thr) rs765893479 0.00002
NM_005476.7(GNE):c.32G>A (p.Arg11Gln) rs1401082365 0.00002
NM_017882.3(CLN6):c.150C>G (p.Tyr50Ter) rs154774640 0.00002
NM_017882.3(CLN6):c.308G>A (p.Arg103Gln) rs154774634 0.00002
NM_000310.4(PPT1):c.353G>A (p.Gly118Asp) rs143657539 0.00001
NM_000310.4(PPT1):c.739T>C (p.Tyr247His) rs386833665 0.00001
NM_000391.4(TPP1):c.481C>T (p.Gln161Ter) rs764256845 0.00001
NM_000391.4(TPP1):c.833A>G (p.Gln278Arg) rs796053439 0.00001
NM_001042432.2(CLN3):c.1247A>G (p.Asp416Gly) rs386833703 0.00001
NM_001371596.2(MFSD8):c.416G>A (p.Arg139His) rs749704755 0.00001
NM_006493.4(CLN5):c.188G>A (p.Arg63His) rs104894386 0.00001
NM_018941.4(CLN8):c.209G>A (p.Arg70His) rs386834124 0.00001
NC_000004.11:g.(128859994_128861007)_(128865148_128870958)del
NC_000004.11:g.(128878748_128886226)_(128887140_?)del
NC_000016.9:g.(?_28488599)_(28495440_28497667)del
NM_000243.3(MEFV):c.726C>A (p.Ser242Arg) rs104895127
NM_000310.4(PPT1):c.125G>A (p.Gly42Glu) rs386833631
NM_000310.4(PPT1):c.249CTT[2] (p.Phe85del) rs386833637
NM_000310.4(PPT1):c.708_712delinsAGA (p.Pro238fs)
NM_000391.4(TPP1):c.1048C>T (p.Arg350Trp) rs1554901784
NM_000391.4(TPP1):c.1076-2A>G rs1424116749
NM_000391.4(TPP1):c.1146-1G>A rs1131691676
NM_000391.4(TPP1):c.1397_1408delinsGACACCGA (p.Val466fs) rs1855559514
NM_000391.4(TPP1):c.184_185del (p.Ser62fs) rs1554902216
NM_000391.4(TPP1):c.380G>A (p.Arg127Gln) rs121908204
NM_000391.4(TPP1):c.381-2A>G rs1554902052
NM_000391.4(TPP1):c.646G>A (p.Val216Met)
NM_000391.4(TPP1):c.829G>A (p.Val277Met) rs121908207
NM_001042432.2(CLN3):c.1000C>T (p.Arg334Cys) rs386833694
NM_001042432.2(CLN3):c.1197+1G>A
NM_001042432.2(CLN3):c.240del (p.Pro81fs) rs748710466
NM_001042432.2(CLN3):c.265C>T (p.Arg89Ter) rs386833713
NM_001042432.2(CLN3):c.558_559del (p.Gly187fs) rs386833729
NM_001042432.2(CLN3):c.954_962+18del rs386833741
NM_001371596.2(MFSD8):c.1393C>T (p.Arg465Trp) rs1043984708
NM_003793.4(CTSF):c.105_129del (p.Ser36fs)
NM_003793.4(CTSF):c.130del (p.Arg44fs) rs1857984449
NM_003793.4(CTSF):c.167_186del (p.Ala56fs)
NM_003793.4(CTSF):c.264del (p.Cys89fs)
NM_003793.4(CTSF):c.993_1004delinsTGCCTACT (p.Lys331fs) rs2134951897
NM_006493.4(CLN5):c.144dup (p.Ser49fs) rs386833970
NM_006493.4(CLN5):c.377T>G (p.Leu126Ter) rs386833972
NM_006493.4(CLN5):c.777_778del (p.Phe260fs) rs786204644
NM_017882.3(CLN6):c.3G>A (p.Met1Ile) rs2093262869
NM_017882.3(CLN6):c.662A>G (p.Tyr221Cys) rs764571295
NM_017882.3(CLN6):c.890del (p.Pro297fs) rs154774639
NM_018941.4(CLN8):c.43del (p.Asp15fs)
NM_018941.4(CLN8):c.725del (p.Thr242fs) rs2129015276
NM_153033.5(KCTD7):c.393C>G (p.Tyr131Ter)
NM_153033.5(KCTD7):c.604del (p.Tyr202fs)
NM_153033.5(KCTD7):c.731del (p.Leu244fs) rs2116775575

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