List of variants reported as likely pathogenic for Familial hypercholesterolemia by Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_174936.4(PCSK9):c.1399C>G (p.Pro467Ala)	rs772677312	0.00004
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr)	rs730882109	0.00003
NM_000527.5(LDLR):c.343C>T (p.Arg115Cys)	rs774723292	0.00003
NM_000527.5(LDLR):c.1502C>T (p.Ala501Val)	rs755667663	0.00001
NM_000527.5(LDLR):c.1661C>T (p.Ser554Leu)	rs879254976	0.00001
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000527.5(LDLR):c.1129dup (p.Cys377fs)	rs2077377269
NM_000527.5(LDLR):c.1327T>C (p.Trp443Arg)	rs773566855
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000527.5(LDLR):c.2001_2002del (p.Cys667_Glu668delinsTer)	rs1600743301
NM_000527.5(LDLR):c.420G>C (p.Glu140Asp)	rs879254520
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
NM_000527.5(LDLR):c.905G>A (p.Cys302Tyr)	rs879254715

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