List of variants studied for cerebral lipidosis with dementia by Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence,

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys)	rs566580738	0.00001
NM_000520.6(HEXA):c.1030T>A (p.Phe344Ile)
NM_000520.6(HEXA):c.568_569del (p.Leu190fs)	rs2088721832
NM_000520.6:c.572_1146del
NM_000521.4(HEXB):c.1242+3G>T	rs778226392
NM_000521.4(HEXB):c.652ATT[1] (p.Ile219del)	rs1749130533
NM_017882.3(CLN6):c.587G>T (p.Cys196Phe)	rs2093199089
NM_017882.3(CLN6):c.659A>C (p.Tyr220Ser)	rs2093198812

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