ClinVar Miner

List of variants reported as pathogenic for Neuronal ceroid lipofuscinosis 1 by OMIM

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Total variants: 10
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NM_000310.3(PPT1):c.223A>C (p.Thr75Pro) rs137852696
NM_000310.3(PPT1):c.29T>A (p.Leu10Ter) rs137852699
NM_000310.3(PPT1):c.364A>T (p.Arg122Trp) rs137852695
NM_000310.3(PPT1):c.451C>T (p.Arg151Ter) rs137852700
NM_000310.3(PPT1):c.656T>A (p.Leu219Gln) rs137852698
NM_001142604.2(PPT1):c.125-2573G>C rs137852701
NM_001142604.2(PPT1):c.125-2659A>G rs137852697
NM_001142604.2(PPT1):c.125-2986G>A rs137852702
PPT1, 1-BP INS, 169A
PPT1, 451C-T

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