List of variants reported as likely pathogenic for Familial hypercholesterolemia by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000527.5(LDLR):c.1634G>A (p.Gly545Glu)	rs759876319	0.00001
NM_000527.5(LDLR):c.1061A>G (p.Asp354Gly)	rs755449669
NM_000527.5(LDLR):c.1069G>A (p.Glu357Lys)	rs879254781
NM_000527.5(LDLR):c.1252G>A (p.Glu418Lys)
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
NM_000527.5(LDLR):c.1745T>C (p.Leu582Pro)	rs875989930
NM_000527.5(LDLR):c.2037T>A (p.Tyr679Ter)	rs760436036
NM_000527.5(LDLR):c.313_313+1del	rs875989896
NM_000527.5(LDLR):c.912C>G (p.Asp304Glu)	rs875989909

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