ClinVar Miner

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
NM_006493.4(CLN5):c.1026_1027AT[1] (p.Thr342_Tyr343insTer) rs386833969
NM_006493.4(CLN5):c.188G>A (p.Arg63His) rs104894386
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.688G>A (p.Asp230Asn) rs28940280
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
NM_006493.4(CLN5):c.974A>G (p.Tyr325Cys) rs148862100

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