List of variants reported as likely pathogenic for Hypercholesterolemia, familial, 1 by Fulgent Genetics, Fulgent Genetics

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn)	rs121908030	0.00006
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr)	rs376459828	0.00004
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys)	rs768563000	0.00004
NM_000527.5(LDLR):c.343C>T (p.Arg115Cys)	rs774723292	0.00003
NM_000527.5(LDLR):c.1060+2T>G	rs774069731	0.00001
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met)	rs368562025	0.00001
NM_000527.5(LDLR):c.1329G>C (p.Trp443Cys)	rs879254867	0.00001
NM_000527.5(LDLR):c.1634G>A (p.Gly545Glu)	rs759876319	0.00001
NM_000527.5(LDLR):c.1691A>G (p.Asn564Ser)	rs758194385	0.00001
NM_000527.5(LDLR):c.1135T>C (p.Cys379Arg)
NM_000527.5(LDLR):c.2000G>A (p.Cys667Tyr)	rs28942083
NM_000527.5(LDLR):c.590G>T (p.Cys197Phe)	rs376459828
NM_000527.5(LDLR):c.671A>G (p.Asp224Gly)	rs879254630
NM_000527.5(LDLR):c.977C>G (p.Ser326Cys)

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