List of variants in gene LIPA reported as pathogenic for Lysosomal acid lipase deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_000235.4(LIPA):c.894G>A (p.Gln298=)	rs116928232	0.00075
NM_000235.4(LIPA):c.398del (p.Leu132_Ser133insTer)	rs756016704	0.00008
NM_000235.4(LIPA):c.1024G>A (p.Gly342Arg)	rs776472526	0.00004
NM_000235.4(LIPA):c.193C>T (p.Arg65Ter)	rs779712562	0.00004
NM_000235.4(LIPA):c.796G>T (p.Gly266Ter)	rs267607218	0.00004
NM_000235.4(LIPA):c.111+1G>A	rs762960877	0.00001
NM_000235.4(LIPA):c.260G>T (p.Gly87Val)	rs587778878	0.00001
NM_000235.4(LIPA):c.419G>A (p.Trp140Ter)	rs1457072724	0.00001
NM_000235.4(LIPA):c.599T>C (p.Leu200Pro)	rs121965086	0.00001
NC_000010.11:g.(?_89228180)_(89228418_?)del
NC_000010.11:g.(?_89228190)_(89228408_?)del
NM_000235.4(LIPA):c.1180_1184del (p.Leu394fs)	rs2133411275
NM_000235.4(LIPA):c.253C>T (p.Gln85Ter)	rs797045094
NM_000235.4(LIPA):c.482del (p.Asn161fs)	rs762559980
NM_000235.4(LIPA):c.594dup (p.Ala199fs)	rs780495201
NM_000235.4(LIPA):c.647T>A (p.Leu216Ter)	rs2133429402
NM_000235.4(LIPA):c.684del (p.Phe228fs)	rs770074196
NM_000235.4(LIPA):c.929G>A (p.Trp310Ter)	rs2133413584

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