List of variants in gene LCAT reported as uncertain significance for LCAT 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: 23

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HGVS	dbSNP	gnomAD frequency
NM_000229.2(LCAT):c.495C>T (p.Ala165=)	rs139146229	0.00060
NM_000229.2(LCAT):c.597C>T (p.Val199=)	rs5922	0.00035
NM_000229.2(LCAT):c.1039C>T (p.Arg347Cys)	rs202017590	0.00022
NM_000229.2(LCAT):c.618C>T (p.Leu206=)	rs372699306	0.00011
NM_000229.2(LCAT):c.382G>A (p.Gly128Ser)	rs199560940	0.00005
NM_000229.2(LCAT):c.1113G>A (p.Thr371=)	rs368689576	0.00004
NM_000229.2(LCAT):c.1192G>A (p.Gly398Arg)	rs772313264	0.00004
NM_000229.2(LCAT):c.159C>T (p.Pro53=)	rs556480808	0.00004
NM_000229.2(LCAT):c.1021G>A (p.Val341Met)	rs746487870	0.00003
NM_000229.2(LCAT):c.1118C>T (p.Ala373Val)	rs756113909	0.00001
NM_000229.2(LCAT):c.1173G>A (p.Val391=)	rs775419267	0.00001
NM_000229.2(LCAT):c.428-4A>G	rs202035096	0.00001
NM_000229.2(LCAT):c.481G>A (p.Glu161Lys)	rs768148804	0.00001
NM_000229.2(LCAT):c.552C>T (p.Leu184=)	rs773303978	0.00001
NM_000229.2(LCAT):c.981A>C (p.Gly327=)	rs139453193	0.00001
NM_000229.2(LCAT):c.*12T>C	rs886052219
NM_000229.2(LCAT):c.1073C>T (p.Thr358Met)
NM_000229.2(LCAT):c.1083G>A (p.Val361=)	rs2058284506
NM_000229.2(LCAT):c.465T>C (p.Asn155=)	rs2058298885
NM_000229.2(LCAT):c.475C>A (p.Arg159=)	rs28940887
NM_000229.2(LCAT):c.534G>T (p.Glu178Asp)	rs886052220
NM_000229.2(LCAT):c.832C>T (p.Pro278Ser)
NM_000229.2(LCAT):c.861C>T (p.His287=)	rs767628388

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