List of variants reported as pathogenic for hyperlipoproteinemia by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

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Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_000237.3(LPL):c.701C>T (p.Pro234Leu)	rs118204060	0.00001
NM_000237.3(LPL):c.829G>A (p.Asp277Asn)	rs118204068	0.00001
NM_000527.5(LDLR):c.523G>A (p.Asp175Asn)	rs121908033	0.00001
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000527.5(LDLR):c.1099_1104delinsGT (p.Leu367fs)
NM_000527.5(LDLR):c.1102T>C (p.Cys368Arg)	rs879254791
NM_000527.5(LDLR):c.1135T>C (p.Cys379Arg)
NM_000527.5(LDLR):c.1216C>A (p.Arg406=)	rs121908043
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
NM_000527.5(LDLR):c.1257C>G (p.Tyr419Ter)	rs774439908
NM_000527.5(LDLR):c.1467C>G (p.Tyr489Ter)	rs370777955
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
NM_000527.5(LDLR):c.2000G>A (p.Cys667Tyr)	rs28942083
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
NM_000527.5(LDLR):c.313_313+1del	rs875989896
NM_000527.5(LDLR):c.675_681dup (p.Glu228delinsIleTer)	rs1555803426
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg)	rs140241383

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