ClinVar Miner

List of variants reported as likely pathogenic for adult neuronal ceroid lipofuscinosis

Included ClinVar conditions (9):
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Minimum conflict level:
ClinVar version:
Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_003793.4(CTSF):c.1046-2A>C rs141915593 0.00025
NM_017882.3(CLN6):c.338C>T (p.Thr113Met) rs758830997 0.00003
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser) rs764571295 0.00003
NM_017882.3(CLN6):c.150C>G (p.Tyr50Ter) rs154774640 0.00002
NM_017882.3(CLN6):c.775G>A (p.Gly259Ser) rs150363441 0.00002
NM_003793.4(CTSF):c.1045+1G>T rs1456291681 0.00001
NM_017882.3(CLN6):c.184C>T (p.Arg62Cys) rs1451777867 0.00001
NM_017882.3(CLN6):c.307C>T (p.Arg103Trp) rs201095412 0.00001
NM_017882.3(CLN6):c.486+1G>A rs756522171 0.00001
NM_017882.3(CLN6):c.679G>A (p.Glu227Lys) rs746753722 0.00001
NM_017882.3(CLN6):c.837G>A (p.Trp279Ter) rs1555438212 0.00001
NM_017882.3(CLN6):c.896C>T (p.Pro299Leu) rs758921701 0.00001
NC_000015.9:g.68504037_68504039delGAT rs121908080
NM_001909.5(CTSD):c.683TCT[1] (p.Phe229del) rs1057519591
NM_002087.4(GRN):c.1179+1G>C
NM_002087.4(GRN):c.1414-15_1591del
NM_002087.4(GRN):c.264+1G>A rs1567885728
NM_002087.4(GRN):c.265-2A>T
NM_002087.4(GRN):c.599-1G>A rs1555611154
NM_002087.4(GRN):c.835+1G>A rs606231221
NM_002087.4(GRN):c.933+1G>A rs63750707
NM_002087.4(GRN):c.934-11_936del
NM_002087.4(GRN):c.934-1G>A rs2143340416
NM_003793.4(CTSF):c.530_531+11del rs2134954887
NM_003793.4(CTSF):c.965-1G>A
NM_017882.3(CLN6):c.185G>A (p.Arg62His) rs751486476
NM_017882.3(CLN6):c.195dup (p.Met66fs)
NM_017882.3(CLN6):c.1A>G (p.Met1Val) rs1555440206
NM_017882.3(CLN6):c.218G>A (p.Trp73Ter) rs2093214695
NM_017882.3(CLN6):c.297G>T (p.Lys99Asn)
NM_017882.3(CLN6):c.311C>T (p.Ser104Phe) rs777921628
NM_017882.3(CLN6):c.322del (p.Leu108fs)
NM_017882.3(CLN6):c.377_378delinsG (p.Ile126fs)
NM_017882.3(CLN6):c.385dup (p.Val129fs)
NM_017882.3(CLN6):c.425A>G (p.Tyr142Cys) rs1227254537
NM_017882.3(CLN6):c.427C>T (p.Gln143Ter) rs2093205953
NM_017882.3(CLN6):c.476C>T (p.Pro159Leu) rs919850756
NM_017882.3(CLN6):c.498dup (p.Glu167Ter) rs762902907
NM_017882.3(CLN6):c.499G>T (p.Glu167Ter) rs2093204342
NM_017882.3(CLN6):c.506T>A (p.Leu169His) rs1344658850
NM_017882.3(CLN6):c.514T>C (p.Tyr172His) rs2141138753
NM_017882.3(CLN6):c.542+1G>T rs1555438614
NM_017882.3(CLN6):c.543G>A (p.Trp181Ter) rs1555438443
NM_017882.3(CLN6):c.665G>A (p.Trp222Ter) rs1555438411
NM_017882.3(CLN6):c.766_770del (p.Asp256fs) rs1555438234
NM_017882.3(CLN6):c.786_787dup (p.Phe263fs) rs1555438229
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del) rs768422260
NM_017882.3(CLN6):c.83+2T>G rs1555440188
NM_017882.3(CLN6):c.884A>G (p.Tyr295Cys) rs2141135900
NM_017882.3(CLN6):c.890del (p.Pro297fs) rs154774639
NM_017882.3(CLN6):c.896C>A (p.Pro299His) rs758921701

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