List of variants studied 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: 17

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HGVS	dbSNP	gnomAD frequency
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter)	rs119455955	0.00025
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His)	rs587778778	0.00011
NM_000784.4(CYP27A1):c.1184+1G>A	rs587778777	0.00009
NM_000784.4(CYP27A1):c.490C>T (p.Arg164Trp)	rs61733615	0.00005
NM_000520.6(HEXA):c.1496G>A (p.Arg499His)	rs121907956	0.00004
NM_000520.6(HEXA):c.805+1G>C	rs121907980	0.00001
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro)	rs421016
NM_000391.4(TPP1):c.1340G>C (p.Arg447Pro)	rs119455956
NM_000391.4(TPP1):c.688-1G>T	rs1855593862
NM_000520.6(HEXA):c.1349del (p.Ala450fs)	rs1057519466
NM_000520.6(HEXA):c.1429_1445del (p.Ala477fs)	rs2140319638
NM_000520.6(HEXA):c.604C>T (p.His202Tyr)	rs2140324712
NM_000520.6(HEXA):c.617T>A (p.Val206Glu)
NM_000521.4(HEXB):c.880C>T (p.His294Tyr)	rs2112171970
NM_000521.4(HEXB):c.965T>C (p.Ile322Thr)	rs1749649940
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del)	rs768422260
NM_017882.3(CLN6):c.896C>A (p.Pro299His)	rs758921701

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