List of variants studied for cerebral lipidosis with dementia by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 20

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HGVS	dbSNP	gnomAD frequency
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)	rs76763715	0.00191
NM_017882.3(CLN6):c.297+113G>C	rs553192210	0.00006
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser)	rs764571295	0.00003
NM_000520.6(HEXA):c.1511G>A (p.Arg504His)	rs121907955	0.00002
NM_000520.6(HEXA):c.571-1G>T	rs185429231	0.00002
NM_000157.4(GBA1):c.104C>T (p.Ser35Leu)	rs757041827	0.00001
NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser)	rs121908311	0.00001
NM_000391.4(TPP1):c.1205A>G (p.Glu402Gly)	rs1471156821	0.00001
NM_000391.4(TPP1):c.1340G>A (p.Arg447His)	rs119455956	0.00001
NM_000520.6(HEXA):c.2T>C (p.Met1Thr)	rs786204721	0.00001
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys)	rs566580738	0.00001
NM_017882.3(CLN6):c.679G>A (p.Glu227Lys)	rs746753722	0.00001
NM_000157.4(GBA1):c.1495G>C (p.Val499Leu)	rs369068553
NM_000520.6(HEXA):c.1361G>A (p.Gly454Asp)	rs1229811721
NM_000521.4(HEXB):c.833C>T (p.Ala278Val)	rs886044118
NM_000784.4(CYP27A1):c.808C>T (p.Arg270Ter)	rs72551318
NM_002087.4(GRN):c.1438C>T (p.His480Tyr)	rs770058074
NM_017882.3(CLN6):c.185G>A (p.Arg62His)	rs751486476
NM_017882.3(CLN6):c.476C>T (p.Pro159Leu)	rs919850756
NM_018941.4(CLN8):c.46C>A (p.Leu16Met)	rs386834129

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