List of variants reported as likely benign for Lysosomal acid lipase deficiency

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000235.4(LIPA):c.*608C>T	rs9664201	0.00443
NM_000235.4(LIPA):c.*876C>G	rs141445686	0.00341
NM_000235.4(LIPA):c.1113A>G (p.Glu371=)	rs116827211	0.00302
NM_000235.4(LIPA):c.754A>T (p.Ile252Leu)	rs147493628	0.00140
NM_000235.4(LIPA):c.396C>G (p.Leu132=)	rs201603238	0.00024
NM_000235.4(LIPA):c.1009A>G (p.Thr337Ala)	rs143793106	0.00022
NM_000235.4(LIPA):c.1023C>T (p.Ser341=)	rs747984396	0.00007
NM_000235.4(LIPA):c.342C>T (p.Asp114=)	rs371133960	0.00005
NM_000235.4(LIPA):c.76C>T (p.Leu26=)	rs377437637	0.00004
NM_000235.4(LIPA):c.846A>G (p.Thr282=)	rs534838107	0.00003
NM_000235.4(LIPA):c.579G>A (p.Arg193=)	rs777978533	0.00002
NM_000235.4(LIPA):c.1050C>T (p.Val350=)	rs1249046123	0.00001
NM_000235.4(LIPA):c.1128C>T (p.Asp376=)	rs200420117	0.00001
NM_000235.4(LIPA):c.1188G>A (p.Arg396=)	rs750001661	0.00001
NM_000235.4(LIPA):c.318C>T (p.Phe106=)	rs1438679981	0.00001
NM_000235.4(LIPA):c.428+8T>G	rs554238064
NM_000235.4(LIPA):c.539-5C>A	rs2297472

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