List of variants reported as uncertain significance for Familial hypercholesterolemia by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_000527.5(LDLR):c.979C>T (p.His327Tyr)	rs747507019	0.00006
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser)	rs544453230	0.00004
NM_000527.5(LDLR):c.232C>T (p.Arg78Cys)	rs370860696	0.00004
NM_000527.5(LDLR):c.1510A>G (p.Lys504Glu)	rs730882103	0.00002
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys)	rs769383881	0.00001
NM_000527.5(LDLR):c.1196C>A (p.Ala399Asp)	rs875989918
NM_000527.5(LDLR):c.1291G>C (p.Ala431Pro)	rs28942079
NM_000527.5(LDLR):c.1424C>T (p.Ala475Val)	rs879254897
NM_000527.5(LDLR):c.1586+5G>C	rs781362878
NM_000527.5(LDLR):c.1860G>T (p.Trp620Cys)	rs875989933
NM_000527.5(LDLR):c.226G>T (p.Gly76Trp)	rs574337291
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
NM_000527.5(LDLR):c.2479G>T (p.Val827Phe)	rs137853964
NM_000527.5(LDLR):c.313+1G>C	rs112029328
NM_000527.5(LDLR):c.590G>T (p.Cys197Phe)	rs376459828
NM_000527.5(LDLR):c.887G>A (p.Cys296Tyr)	rs879254707
NM_174936.4(PCSK9):c.1394C>T (p.Ser465Leu)	rs778849441
NM_174936.4(PCSK9):c.323T>G (p.Leu108Arg)	rs1057519691

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