ClinVar Miner

List of variants reported as pathogenic for Ceroid lipofuscinosis neuronal 1 by Invitae

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Total variants: 9
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HGVS dbSNP
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.541G>A (p.Val181Met) rs148412181
NM_000310.3(PPT1):c.629_630dup (p.Ile211fs)
NM_000310.4(PPT1):c.6del (p.Ser3fs)
NM_001142604.2(PPT1):c.125-2560_125-2559del
NM_001142604.2(PPT1):c.125-2945del rs386833635
NM_001142604.2(PPT1):c.125-2957dup rs386833634

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