List of variants reported as pathogenic for Neuronal ceroid lipofuscinosis 13 by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_003793.4(CTSF):c.329_347del (p.Val110fs)
NM_003793.4(CTSF):c.594T>A (p.Tyr198Ter)	rs758004789
NM_003793.4(CTSF):c.664C>T (p.Gln222Ter)	rs766762684
NM_003793.4(CTSF):c.992del (p.Lys331fs)	rs2495276170

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