ClinVar Miner

List of variants reported as likely pathogenic for Neuronal ceroid lipofuscinosis 13 by Revvity Omics, Revvity

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_003793.4(CTSF):c.1046-2A>C	rs141915593	0.00025
NM_003793.4(CTSF):c.1045+1G>T	rs1456291681	0.00001
NM_003793.4(CTSF):c.530_531+11del	rs2134954887

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