List of variants reported as pathogenic for neuronal ceroid lipofuscinosis by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter)	rs546989392	0.00010
NM_001371596.2(MFSD8):c.103C>T (p.Arg35Ter)	rs749315686	0.00001
NM_018941.4(CLN8):c.473A>G (p.Tyr158Cys)	rs386834130	0.00001
NM_018941.4(CLN8):c.709G>A (p.Gly237Arg)	rs746645358	0.00001
NM_001042432.2(CLN3):c.610C>T (p.Gln204Ter)
NM_001371596.2(MFSD8):c.1354_1369del (p.Gly451_Val452insTer)	rs2148837382
NM_001371596.2(MFSD8):c.198+2T>C	rs2148943607
NM_001371596.2(MFSD8):c.863+1G>A	rs200319160
NM_006493.4(CLN5):c.510_514dup (p.Asp172fs)	rs1555274005
NM_153033.5(KCTD7):c.696del (p.Phe232fs)	rs2116775509

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