List of variants reported as uncertain significance for Hypercholesterolemia, familial, 1 by Cardiovascular Biomarker Research Laboratory, Mayo Clinic

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg)	rs147509697	0.00053
NM_000527.5(LDLR):c.507C>T (p.Asn169=)	rs146354103	0.00029
NM_000527.5(LDLR):c.1085A>C (p.Asp362Ala)	rs138315511	0.00008
NM_000527.5(LDLR):c.2252G>A (p.Arg751Gln)	rs200142970	0.00007
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met)	rs368562025	0.00001
NM_000527.5(LDLR):c.508G>A (p.Asp170Asn)	rs139089530	0.00001
NM_000527.5(LDLR):c.1706-10G>A
NM_000527.5(LDLR):c.1836C>T (p.Ala612=)	rs143872778
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
NM_000527.5(LDLR):c.941-4G>A

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