List of variants in gene LIPA reported by PreventionGenetics, part of Exact Sciences

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NM_000235.4(LIPA):c.676-42G>A	rs1556478	0.32749
NM_000235.4(LIPA):c.966+46C>T	rs3802656	0.29308
NM_000235.4(LIPA):c.46A>C (p.Thr16Pro)	rs1051338	0.25399
NM_000235.4(LIPA):c.67G>A (p.Gly23Arg)	rs1051339	0.13459
NM_000235.4(LIPA):c.754A>T (p.Ile252Leu)	rs147493628	0.00140
NM_000235.4(LIPA):c.894G>A (p.Gln298=)	rs116928232	0.00075
NM_000235.4(LIPA):c.889A>G (p.Ser297Gly)	rs147426329	0.00061
NM_000235.4(LIPA):c.112-9T>C	rs200186130	0.00046
NM_000235.4(LIPA):c.891C>T (p.Ser297=)	rs145066614	0.00039
NM_000235.4(LIPA):c.662A>G (p.Asp221Gly)	rs145163592	0.00014
NM_000235.4(LIPA):c.1068A>G (p.Leu356=)	rs137932212	0.00013
NM_000235.4(LIPA):c.429-8G>T	rs112248349	0.00013
NM_000235.4(LIPA):c.539-6T>C	rs201898154	0.00009
NM_000235.4(LIPA):c.1023C>T (p.Ser341=)	rs747984396	0.00007
NM_000235.4(LIPA):c.714G>A (p.Ala238=)	rs139282720	0.00004
NM_000235.4(LIPA):c.1110G>A (p.Pro370=)	rs1381270290	0.00003
NM_000235.4(LIPA):c.895-7T>C	rs756396844	0.00003
NM_000235.4(LIPA):c.1056C>T (p.Asp352=)	rs1564748504	0.00001
NM_000235.4(LIPA):c.135A>T (p.Gly45=)	rs760789213	0.00001
NM_000235.4(LIPA):c.429-7A>T	rs377215072	0.00001
NM_000235.4(LIPA):c.974C>T (p.Pro325Leu)	rs1326903845	0.00001
NM_000235.4(LIPA):c.1032C>T (p.His344=)	rs779601441
NM_000235.4(LIPA):c.429-10T>G	rs1554865817
NM_000235.4(LIPA):c.48C>T (p.Thr16=)
NM_000235.4(LIPA):c.519T>C (p.His173=)
NM_000235.4(LIPA):c.538+4T>A	rs779872404
NM_000235.4(LIPA):c.539-5C>T	rs2297472
NM_000235.4(LIPA):c.683T>C (p.Phe228Ser)	rs2228159
NM_000235.4(LIPA):c.684T>C (p.Phe228=)
NM_000235.4(LIPA):c.690C>T (p.Asp230=)	rs1409978506

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