List of variants reported as benign for Hypercholesterolemia, familial, 1 by Genome-Nilou Lab

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Total variants: 28

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HGVS	dbSNP	gnomAD frequency
NM_000527.5(LDLR):c.2312-136A>G	rs2569538	0.86836
NM_000527.5(LDLR):c.2232A>G (p.Arg744=)	rs5927	0.74675
NM_000527.5(LDLR):c.1413A>G (p.Arg471=)	rs5930	0.65878
NM_000527.5(LDLR):c.1706-55A>C	rs2738447	0.65266
NM_000527.5(LDLR):c.1705+182C>T	rs2738445	0.58403
NM_000527.5(LDLR):c.1586+53A>G	rs1569372	0.41767
NM_000527.5(LDLR):c.2548-42A>G	rs6413504	0.39303
NM_000527.5(LDLR):c.1959T>C (p.Val653=)	rs5925	0.37370
NM_000527.5(LDLR):c.1773C>T (p.Asn591=)	rs688	0.33392
NM_000527.5(LDLR):c.2548-80G>A	rs2116897	0.22593
NM_000527.5(LDLR):c.*52G>A	rs14158	0.22552
NM_000527.5(LDLR):c.2548-147G>A	rs2116898	0.22073
NM_000527.5(LDLR):c.1705+56C>T	rs4508523	0.21747
NM_000527.5(LDLR):c.1705+209C>T	rs7248981	0.21143
NM_000527.5(LDLR):c.1725C>T (p.Leu575=)	rs1799898	0.11001
NM_000527.5(LDLR):c.190+56G>A	rs3745677	0.09858
NM_000527.5(LDLR):c.81C>T (p.Cys27=)	rs2228671	0.08613
NM_000527.5(LDLR):c.1617C>T (p.Pro539=)	rs5929	0.07003
NM_000527.5(LDLR):c.314-50T>C	rs10423288	0.06015
NM_000527.5(LDLR):c.940+36G>A	rs13306513	0.03637
NM_000527.5(LDLR):c.2389+57C>T	rs145293532	0.00605
NM_000527.5(LDLR):c.1060+10G>C
NM_000527.5(LDLR):c.1060+7=
NM_000527.5(LDLR):c.1359-30C>T
NM_000527.5(LDLR):c.1706-69G>T	rs7259278
NM_000527.5(LDLR):c.2289G>T (p.Glu763Asp)	rs774698247
NM_000527.5(LDLR):c.2389+46C>T
NM_000527.5(LDLR):c.2389+47G>A

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