List of variants reported as pathogenic for syndromic dyslipidemia by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000784.4(CYP27A1):c.1184+1G>A	rs587778777	0.00009
NM_000404.4(GLB1):c.276G>A (p.Trp92Ter)	rs748830051	0.00002
NM_000404.4(GLB1):c.1768C>T (p.Arg590Cys)	rs794727165	0.00001
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp)	rs121908098	0.00001
NM_000404.4(GLB1):c.1077del (p.Val360fs)	rs727503952
NM_000404.4(GLB1):c.1122T>G (p.Tyr374Ter)
NM_000404.4(GLB1):c.562G>T (p.Glu188Ter)
NM_000404.4(GLB1):c.65_75+1del	rs1382394474
NM_001127178.3(PIGG):c.2624_2625del (p.Gly874_Leu875insTer)	rs771819481

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