List of variants in gene CLN5 reported as likely pathogenic for Neuronal ceroid lipofuscinosis

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_006493.4(CLN5):c.187C>T (p.Arg63Cys)	rs786205211	0.00001
NM_006493.4(CLN5):c.188G>A (p.Arg63His)	rs104894386	0.00001
NC_000013.11:g.(?_76995053)_(76995238_?)dup
NM_006493.4(CLN5):c.230G>A (p.Cys77Tyr)	rs267606738
NM_006493.4(CLN5):c.339+1G>A
NM_006493.4(CLN5):c.339+1G>T
NM_006493.4(CLN5):c.340-1G>C
NM_006493.4(CLN5):c.340-1del	rs1057516390
NM_006493.4(CLN5):c.340-52_365delinsTAACGGG
NM_006493.4(CLN5):c.371del (p.Ser124fs)	rs794729218
NM_006493.4(CLN5):c.377T>G (p.Leu126Ter)	rs386833972
NM_006493.4(CLN5):c.428A>G (p.Asn143Ser)	rs386833975
NM_006493.4(CLN5):c.475T>C (p.Cys159Arg)	rs2154034738
NM_006493.4(CLN5):c.625T>G (p.Tyr209Asp)	rs386833981
NM_006493.4(CLN5):c.777_778del (p.Phe260fs)	rs786204644

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