List of variants studied for cerebral lipidosis with dementia by Knight Diagnostic Laboratories, Oregon Health and Sciences University

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)	rs76763715	0.00191
NM_000391.4(TPP1):c.509-1G>C	rs56144125	0.00053
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs)	rs387906309	0.00046
NM_000157.4(GBA1):c.1604G>A (p.Arg535His)	rs75822236	0.00006
NM_000521.4(HEXB):c.311A>G (p.Tyr104Cys)	rs762209256	0.00002
NM_018941.4(CLN8):c.614T>C (p.Met205Thr)	rs763967636	0.00001
NM_000784.4(CYP27A1):c.847A>T (p.Lys283Ter)	rs1057519469

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