List of variants in gene LIPA reported as pathogenic for not provided

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: 15

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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.796G>T (p.Gly266Ter)	rs267607218	0.00004
NM_000235.4(LIPA):c.260G>T (p.Gly87Val)	rs587778878	0.00001
NM_000235.4(LIPA):c.350_351insCC (p.Met117fs)	rs753796180	0.00001
NM_000235.4(LIPA):c.1180_1184del (p.Leu394fs)	rs2133411275
NM_000235.4(LIPA):c.397_398del (p.Val134fs)	rs1564755287
NM_000235.4(LIPA):c.412G>T (p.Glu138Ter)	rs1226852302
NM_000235.4(LIPA):c.459dup (p.Ala154fs)	rs1564754574
NM_000235.4(LIPA):c.45G>A (p.Trp15Ter)	rs2133468001
NM_000235.4(LIPA):c.539-2A>G	rs762143630
NM_000235.4(LIPA):c.594dup (p.Ala199fs)	rs780495201
NM_000235.4(LIPA):c.676-2A>T	rs747508159
NM_000235.4(LIPA):c.817_820del (p.Asn273fs)	rs1564752665
NM_000235.4(LIPA):c.822+1G>C	rs1204744283

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