List of variants reported as benign for Hypercholesterolemia, familial, 1 by ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000527.5(LDLR):c.1060+10G>C	rs12710260	0.34072
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr)	rs11669576	0.08075
NM_000527.5(LDLR):c.941-4G>A	rs116405216	0.00771
NM_000527.5(LDLR):c.2140+5G>A	rs72658867	0.00757
NM_000527.5(LDLR):c.940+9C>T	rs17242906	0.00749
NM_000527.5(LDLR):c.1586+16G>A	rs114891301	0.00699
NM_000527.5(LDLR):c.1061-8T>C	rs72658861	0.00640
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)	rs45508991	0.00495
NM_000527.5(LDLR):c.941-39C>T	rs55792959	0.00407
NM_000527.5(LDLR):c.1920C>T (p.Asn640=)	rs5926	0.00316
NC_000019.10:g.11089332C>T	rs17249141	0.00314
NM_000527.5(LDLR):c.*13A>G	rs72658871	0.00255
NM_000527.5(LDLR):c.1323C>T (p.Ile441=)	rs5933	0.00134
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg)	rs147509697	0.00053
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)	rs139361635
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)	rs72658860

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