ClinVar Miner

List of variants in gene combination CLN5, FBXL3 reported as pathogenic for Neuronal ceroid lipofuscinosis 5

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Total variants: 15
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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.371del (p.Ser124fs) rs794729218
NM_006493.4(CLN5):c.377T>G (p.Leu126Ter) rs386833972
NM_006493.4(CLN5):c.431G>A (p.Cys144Tyr) rs1566219136
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter) rs546989392
NM_006493.4(CLN5):c.510_514dup (p.Asp172fs) rs1555274005
NM_006493.4(CLN5):c.525del (p.His174_Trp175insTer) rs587780315
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.907G>T (p.Glu303Ter) rs121908292
NM_006493.4(CLN5):c.974A>G (p.Tyr325Cys) rs148862100

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