List of variants reported as likely pathogenic for adult neuronal ceroid lipofuscinosis by Counsyl

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_017882.3(CLN6):c.150C>G (p.Tyr50Ter)	rs154774640	0.00002
NM_017882.3(CLN6):c.486+1G>A	rs756522171	0.00001
NM_017882.3(CLN6):c.837G>A (p.Trp279Ter)	rs1555438212	0.00001
NM_017882.3(CLN6):c.896C>T (p.Pro299Leu)	rs758921701	0.00001
NC_000015.9:g.68504037_68504039delGAT	rs121908080
NM_017882.3(CLN6):c.1A>G (p.Met1Val)	rs1555440206
NM_017882.3(CLN6):c.498dup (p.Glu167Ter)	rs762902907
NM_017882.3(CLN6):c.542+1G>T	rs1555438614
NM_017882.3(CLN6):c.543G>A (p.Trp181Ter)	rs1555438443
NM_017882.3(CLN6):c.665G>A (p.Trp222Ter)	rs1555438411
NM_017882.3(CLN6):c.766_770del (p.Asp256fs)	rs1555438234
NM_017882.3(CLN6):c.786_787dup (p.Phe263fs)	rs1555438229
NM_017882.3(CLN6):c.83+2T>G	rs1555440188
NM_017882.3(CLN6):c.890del (p.Pro297fs)	rs154774639

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