List of variants reported as pathogenic for Neuronal ceroid lipofuscinosis 5 by OMIM

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_006493.4(CLN5):c.188G>A (p.Arg63His)	rs104894386	0.00001
NM_006493.4(CLN5):c.688G>A (p.Asp230Asn)	rs28940280	0.00001
NM_006493.4(CLN5):c.974A>G (p.Tyr325Cys)	rs148862100	0.00001
NM_006493.4(CLN5):c.1028_1029del (p.Thr342_Tyr343insTer)	rs386833969
NM_006493.4(CLN5):c.230G>A (p.Cys77Tyr)	rs267606738
NM_006493.4(CLN5):c.547C>T (p.Gln183Ter)	rs869312751
NM_006493.4(CLN5):c.566-42_*46del	rs1555274312
NM_006493.4(CLN5):c.788G>A (p.Ser263Asn)	rs730882146
NM_006493.4(CLN5):c.78G>A (p.Trp26Ter)	rs104894385
NM_006493.4(CLN5):c.907G>T (p.Glu303Ter)	rs121908292

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