ClinVar Miner

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

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_003793.4(CTSF):c.1401T>C (p.Arg467=) rs572846 0.62182
NM_003793.4(CTSF):c.219T>C (p.Gly73=) rs1127894 0.62142
NM_003793.4(CTSF):c.762G>A (p.Arg254=) rs545009 0.61054
NM_003793.4(CTSF):c.126C>T (p.Pro42=) rs1044522 0.22541
NM_003793.4(CTSF):c.722-5C>T rs78871927 0.06870
NM_003793.4(CTSF):c.418G>A (p.Ala140Thr) rs79274952 0.01384
NM_003793.4(CTSF):c.1322-19G>A rs73505406 0.00770
NM_003793.4(CTSF):c.1368C>T (p.Asp456=) rs148155987 0.00759
NM_003793.4(CTSF):c.939G>A (p.Gly313=) rs114727660 0.00758
NM_003793.4(CTSF):c.1261C>T (p.Arg421Trp) rs28464796 0.00735
NM_003793.4(CTSF):c.1158C>T (p.Asn386=) rs116329758 0.00447
NM_003793.4(CTSF):c.458A>G (p.Gln153Arg) rs11550508 0.00311
NM_003793.4(CTSF):c.1231-13T>C rs199830949 0.00267
NM_003793.4(CTSF):c.130C>T (p.Arg44Cys) rs573483617 0.00221
NM_003793.4(CTSF):c.1321C>T (p.Arg441Cys) rs150922871 0.00177
NM_003793.4(CTSF):c.45G>T (p.Pro15=) rs117792851 0.00050
NM_003793.4(CTSF):c.1407C>T (p.Ser469=) rs144556402 0.00044

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