ClinVar Miner

List of variants studied for adult neuronal ceroid lipofuscinosis by OMIM

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_003793.4(CTSF):c.692A>G (p.Tyr231Cys) rs143889283 0.00008
NM_001909.5(CTSD):c.685T>A (p.Phe229Ile) rs121912789 0.00006
NM_003793.4(CTSF):c.954del (p.Ser319fs) rs753084727 0.00003
NM_017882.3(CLN6):c.308G>A (p.Arg103Gln) rs154774634 0.00002
NM_017882.3(CLN6):c.296A>G (p.Lys99Arg) rs146782642 0.00001
NM_017882.3(CLN6):c.350T>G (p.Ile117Ser) rs752212030 0.00001
NC_000015.9:g.68504037_68504039delGAT rs121908080
NM_001909.5(CTSD):c.1149G>C (p.Trp383Cys) rs121912790
NM_001909.5(CTSD):c.1196G>A (p.Arg399His) rs797045138
NM_001909.5(CTSD):c.446G>T (p.Gly149Val) rs797045137
NM_001909.5(CTSD):c.764dup (p.Tyr255Ter) rs786205105
NM_002087.4(GRN):c.813_816del (p.Thr272fs) rs63749877
NM_003793.4(CTSF):c.1373G>C (p.Gly458Ala) rs397514732
NM_003793.4(CTSF):c.1439C>T (p.Ser480Leu) rs397514733
NM_003793.4(CTSF):c.213+1G>C rs797045136
NM_003793.4(CTSF):c.962A>G (p.Gln321Arg) rs397514731
NM_017882.3(CLN6):c.139C>T (p.Leu47Phe) rs154774635
NM_017882.3(CLN6):c.17G>C (p.Arg6Thr) rs154774636
NM_017882.3(CLN6):c.200T>C (p.Leu67Pro) rs154774633
NM_017882.3(CLN6):c.214G>T (p.Glu72Ter) rs104894483
NM_017882.3(CLN6):c.218_220dup (p.Trp73dup) rs2141141533
NM_017882.3(CLN6):c.268_271dup (p.Val91fs) rs786205067
NM_017882.3(CLN6):c.316dup (p.Arg106fs) rs397515352
NM_017882.3(CLN6):c.368G>A (p.Gly123Asp) rs104894484
NM_017882.3(CLN6):c.395_396del (p.Ser132fs) rs774543080
NM_017882.3(CLN6):c.511TAT[1] (p.Tyr172del) rs121908079
NM_017882.3(CLN6):c.542+5G>T rs786205066
NM_017882.3(CLN6):c.663C>G (p.Tyr221Ter) rs104894486
NM_017882.3(CLN6):c.723G>T (p.Met241Ile) rs149262877
NM_017882.3(CLN6):c.7del (p.Ala3fs) rs786205065
NM_025219.3(DNAJC5):c.343CTC[1] (p.Leu116del) rs587776892
NM_025219.3(DNAJC5):c.344T>G (p.Leu115Arg) rs387907043
NM_025219.3(DNAJC5):c.370_399dup (p.Cys124_Cys133dup) rs1600887859

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