List of variants reported as pathogenic for neuronal ceroid lipofuscinosis by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000391.4(TPP1):c.509-1G>C	rs56144125	0.00053
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter)	rs137852700	0.00038
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter)	rs119455955	0.00025

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