List of variants reported as pathogenic for Hypercholesterolemia, familial, 1 by Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000527.5(LDLR):c.1014C>G (p.Cys338Trp)	rs879254755
NM_000527.5(LDLR):c.1285G>T (p.Val429Leu)	rs28942078
NM_000527.5(LDLR):c.1436T>A (p.Leu479Gln)	rs879254900
NM_000527.5(LDLR):c.1778del (p.Gly593fs)	rs875989931
NM_000527.5(LDLR):c.181G>T (p.Glu61Ter)	rs2077195468
NM_000527.5(LDLR):c.443G>A (p.Cys148Tyr)	rs879254526
NM_000527.5(LDLR):c.514G>C (p.Asp172His)	rs879254554
NM_000527.5(LDLR):c.564C>G (p.Tyr188Ter)	rs121908034
NM_000527.5(LDLR):c.647G>A (p.Cys216Tyr)	rs879254611
NM_000527.5(LDLR):c.680A>G (p.Asp227Gly)
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
NM_000527.5(LDLR):c.906C>G (p.Cys302Trp)	rs879254716

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