ClinVar Miner

List of variants reported as likely pathogenic for Neuronal ceroid lipofuscinosis

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Total variants: 10
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HGVS dbSNP
NM_000086.2(CLN3):c.1000C>T (p.Arg334Cys) rs386833694
NM_000086.2(CLN3):c.1056+3A>C rs386833698
NM_000086.2(CLN3):c.1056G>T (p.Gln352His)
NM_000086.2(CLN3):c.461-1G>T
NM_000310.3(PPT1):c.3G>A (p.Met1Ile) rs386833645
NM_000391.4(TPP1):c.1145+1G>A rs113019349
NM_000391.4(TPP1):c.182T>G (p.Leu61Arg) rs1060502179
NM_000391.4(TPP1):c.381-2A>G rs1554902052
NM_000391.4(TPP1):c.617G>A (p.Arg206His) rs121908209
NM_000391.4(TPP1):c.89+5G>C rs746085696

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