ClinVar Miner

List of variants studied for Neuronal ceroid lipofuscinosis 1 by Integrated Genetics/Laboratory Corporation of America

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Total variants: 6
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HGVS dbSNP
NM_000310.3(PPT1):c.169dup (p.Met57fs) rs386833634
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.541G>A (p.Val181Met) rs148412181
NM_000310.3(PPT1):c.871C>T (p.Gln291Ter) rs386833668

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