List of variants reported as likely pathogenic for Hypercholesterolemia, familial, 1 by Department of Human Genetics, Laborarztpraxis Dres. Walther, Weindel und Kollegen

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu)	rs139043155	0.00004
NM_000527.5(LDLR):c.684G>C (p.Glu228Asp)	rs1208216597
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
NM_000527.5(LDLR):c.847A>T (p.Lys283Ter)	rs1600715089

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