List of variants reported as pathogenic for syndromic dyslipidemia by Centogene AG - the Rare Disease Company

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

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000235.4(LIPA):c.894G>A (p.Gln298=)	rs116928232	0.00075
NM_000784.4(CYP27A1):c.1184+1G>A	rs587778777	0.00009
NM_000237.3(LPL):c.987C>A (p.Tyr329Ter)	rs118204081
NM_003901.4(SGPL1):c.665G>A (p.Arg222Gln)	rs769259446

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