ClinVar Miner

List of variants in gene CLN8 reported as likely benign for Neuronal ceroid lipofuscinosis 8

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser) rs142269885 0.00083
NM_018941.4(CLN8):c.806A>T (p.Glu269Val) rs139003032 0.00016
NM_018941.4(CLN8):c.207G>A (p.Thr69=) rs368365607 0.00014
NM_018941.4(CLN8):c.510G>A (p.Thr170=) rs759153401 0.00006
NM_018941.4(CLN8):c.111C>T (p.Gly37=) rs753430388 0.00002
NM_018941.4(CLN8):c.75C>T (p.Ser25=) rs1276904511 0.00001
NM_018941.4(CLN8):c.795C>T (p.Phe265=) rs760610632 0.00001
NM_018941.4(CLN8):c.21G>A (p.Gly7=) rs751762914
NM_018941.4(CLN8):c.507C>T (p.Ser169=) rs386834131
NM_018941.4(CLN8):c.696A>G (p.Thr232=) rs1337045486

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