ClinVar Miner

List of variants reported for Neuronal ceroid lipofuscinosis by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000310.4(PPT1):c.*3C>A rs150454815 0.00889
NM_000310.4(PPT1):c.364A>T (p.Arg122Trp) rs137852695 0.00061
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
NM_000391.4(TPP1):c.617G>A (p.Arg206His) rs121908209 0.00001
NM_000310.4(PPT1):c.169dup (p.Met57fs) rs386833634
NM_000310.4(PPT1):c.536+1G>A rs386833651
NM_000391.4(TPP1):c.237C>G (p.Tyr79Ter) rs1564855860

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