List of variants reported as pathogenic for hyperlipoproteinemia by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000527.5(LDLR):c.1359-1G>A	rs139617694	0.00001
NM_000527.5(LDLR):c.2113G>C (p.Ala705Pro)	rs193922570	0.00001
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
NM_000527.4(LDLR):c.313+1G>A
NM_000527.5(LDLR):c.1048C>T (p.Arg350Ter)
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
NM_000527.5(LDLR):c.131G>A (p.Trp44Ter)	rs267607213
NM_000527.5(LDLR):c.1329G>T (p.Trp443Cys)	rs879254867
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
NM_000527.5(LDLR):c.191-2A>G	rs544203837
NM_000527.5(LDLR):c.28T>C (p.Trp10Arg)
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
NM_000527.5(LDLR):c.917C>T (p.Ser306Leu)	rs11547917

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