ClinVar Miner

List of variants reported as uncertain significance for neuronal ceroid lipofuscinosis by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_022089.4(ATP13A2):c.2859G>A (p.Thr953=) rs144557304 0.00127
NM_022089.4(ATP13A2):c.839A>G (p.Lys280Arg) rs148094721 0.00010
NM_000310.4(PPT1):c.583T>C (p.Tyr195His) rs1648869873
NM_000391.4(TPP1):c.843G>A (p.Met281Ile) rs776489592
NM_003793.4(CTSF):c.1069T>C (p.Tyr357His)
NM_003793.4(CTSF):c.1399C>T (p.Arg467Cys)

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