List of variants reported as pathogenic for hyperlipoproteinemia by Genetics and Molecular Pathology, SA Pathology

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys)	rs144172724	0.00001
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
NM_000527.5(LDLR):c.326G>A (p.Cys109Tyr)	rs121908042
NM_000527.5(LDLR):c.373C>T (p.Gln125Ter)	rs875989899
NM_000527.5(LDLR):c.621C>T (p.Gly207=)	rs121908044
NM_000527.5(LDLR):c.680_681del (p.Asp227fs)	rs387906305
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu)	rs121908028

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