ClinVar Miner

List of variants reported as pathogenic for Ceroid lipofuscinosis neuronal 1

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Total variants: 19
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HGVS dbSNP
NC_000001.10:g.40558255_40562842del
NM_000310.3(PPT1):c.134G>A (p.Cys45Tyr) rs137852702
NM_000310.3(PPT1):c.169dup (p.Met57fs) rs386833634
NM_000310.3(PPT1):c.175del (p.Glu59fs) rs386833635
NM_000310.3(PPT1):c.223A>C (p.Thr75Pro) rs137852696
NM_000310.3(PPT1):c.236A>G (p.Asp79Gly) rs137852697
NM_000310.3(PPT1):c.29T>A (p.Leu10Ter) rs137852699
NM_000310.3(PPT1):c.322G>C (p.Gly108Arg) rs137852701
NM_000310.3(PPT1):c.335_336del (p.Met112fs)
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.529C>G (p.Gln177Glu) rs386833650
NM_000310.3(PPT1):c.541G>A (p.Val181Met) rs148412181
NM_000310.3(PPT1):c.629_630dup (p.Ile211fs)
NM_000310.3(PPT1):c.656T>A (p.Leu219Gln) rs137852698
NM_000310.3(PPT1):c.6del (p.Ser3fs)
NM_001142604.2(PPT1):c.181C>T (p.Arg61Ter) rs386833649
PPT1, 1-BP INS, 169A
PPT1, 451C-T

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