ClinVar Miner

List of variants studied for Neuronal ceroid lipofuscinosis 13 by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_003793.4(CTSF):c.1069T>C (p.Tyr357His) rs746404498 0.00001
NM_003793.4(CTSF):c.1399C>T (p.Arg467Cys) rs1005336445 0.00001

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