List of variants reported as likely pathogenic for cerebral lipidosis with dementia by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His)	rs587778778	0.00011
NM_000784.4(CYP27A1):c.490C>T (p.Arg164Trp)	rs61733615	0.00005
NM_000391.4(TPP1):c.1340G>C (p.Arg447Pro)	rs119455956
NM_000520.6(HEXA):c.604C>T (p.His202Tyr)	rs2140324712
NM_000520.6(HEXA):c.617T>A (p.Val206Glu)
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del)	rs768422260
NM_017882.3(CLN6):c.896C>A (p.Pro299His)	rs758921701

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