List of variants reported as likely pathogenic for Lysosomal acid lipase deficiency by Myriad Genetics, Inc.

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000235.4(LIPA):c.131G>A (p.Trp44Ter)
NM_000235.4(LIPA):c.160G>T (p.Glu54Ter)	rs1843015393
NM_000235.4(LIPA):c.226A>T (p.Lys76Ter)
NM_000235.4(LIPA):c.313_314del (p.Gly105fs)
NM_000235.4(LIPA):c.384del (p.Lys128fs)
NM_000235.4(LIPA):c.420_421del (p.Trp140fs)
NM_000235.4(LIPA):c.447del (p.Lys149fs)
NM_000235.4(LIPA):c.479_480del (p.Leu160fs)
NM_000235.4(LIPA):c.605_618del (p.Pro202fs)
NM_000235.4(LIPA):c.685G>T (p.Gly229Ter)
NM_000235.4(LIPA):c.805G>T (p.Glu269Ter)	rs1842729716
NM_000235.4(LIPA):c.815T>A (p.Leu272Ter)	rs1842729511
NM_000235.4(LIPA):c.826A>T (p.Arg276Ter)	rs1842714308
NM_000235.4(LIPA):c.871C>T (p.Gln291Ter)

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