List of variants reported as uncertain significance for Lysosomal acid lipase deficiency by Illumina Laboratory Services, Illumina

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		ClinVar version:

Total variants: 41

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HGVS	dbSNP	gnomAD frequency
NM_000235.4(LIPA):c.754A>T (p.Ile252Leu)	rs147493628	0.00140
NM_000235.4(LIPA):c.*804C>T	rs886047468	0.00060
NM_000235.4(LIPA):c.891C>T (p.Ser297=)	rs145066614	0.00039
NM_000235.4(LIPA):c.*842G>A	rs187138384	0.00014
NM_000235.4(LIPA):c.662A>G (p.Asp221Gly)	rs145163592	0.00014
NM_000235.4(LIPA):c.*557A>C	rs942666524	0.00009
NM_000235.4(LIPA):c.380G>A (p.Arg127Gln)	rs544080483	0.00009
NM_000235.4(LIPA):c.*939G>A	rs774820637	0.00008
NM_000235.4(LIPA):c.-2+7G>A	rs879494219	0.00007
NM_000235.4(LIPA):c.*151C>T	rs767578516	0.00006
NM_000235.4(LIPA):c.*573T>A	rs769179666	0.00006
NM_000235.4(LIPA):c.*921C>T	rs1179037686	0.00006
NM_000235.4(LIPA):c.*858A>C	rs886047467	0.00005
NM_000235.4(LIPA):c.*458C>T	rs1006504114	0.00004
NM_000235.4(LIPA):c.*991T>G	rs886047466	0.00004
NM_000235.4(LIPA):c.967-13C>A	rs762226885	0.00004
NM_000235.4(LIPA):c.*184T>C	rs1338962406	0.00003
NM_000235.4(LIPA):c.111+13A>G	rs375237841	0.00003
NM_000235.4(LIPA):c.*1147C>G	rs1245823235	0.00001
NM_000235.4(LIPA):c.*385C>A	rs763288984	0.00001
NM_000235.4(LIPA):c.*494A>G	rs1003454769	0.00001
NM_000235.4(LIPA):c.*949C>T	rs755914073	0.00001
NM_000235.4(LIPA):c.1026G>A (p.Gly342=)	rs550415126	0.00001
NM_000235.4(LIPA):c.229+6G>A	rs778866130	0.00001
NM_000235.4(LIPA):c.318C>T (p.Phe106=)	rs1438679981	0.00001
NM_000235.4(LIPA):c.428+3A>G	rs369626938	0.00001
NM_000235.4(LIPA):c.6A>T (p.Lys2Asn)	rs138408240	0.00001
NM_000235.4(LIPA):c.713C>T (p.Ala238Val)	rs886047470	0.00001
NM_000235.4(LIPA):c.*1091T>C	rs886047465
NM_000235.4(LIPA):c.*1205T>G	rs886047464
NM_000235.4(LIPA):c.*383A>G	rs1842593097
NM_000235.4(LIPA):c.*618G>C	rs886047469
NM_000235.4(LIPA):c.1142T>C (p.Leu381Pro)	rs1334456405
NM_000235.4(LIPA):c.1167T>C (p.Asn389=)	rs1842600689
NM_000235.4(LIPA):c.230-15A>G	rs199978109
NM_000235.4(LIPA):c.391A>G (p.Thr131Ala)	rs1842795359
NM_000235.4(LIPA):c.50T>C (p.Leu17Pro)	rs886047472
NM_000235.4(LIPA):c.615C>T (p.Ser205=)	rs143930279
NM_000235.4(LIPA):c.616G>A (p.Val206Ile)	rs756878837
NM_000235.4(LIPA):c.667C>T (p.Leu223Phe)	rs1161698310
NM_000235.4(LIPA):c.676-14T>A	rs886047471

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