List of variants reported as likely pathogenic for Hypercholesterolemia, familial, 1 by Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine

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Total variants: 26

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HGVS	dbSNP	gnomAD frequency
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)	rs201573863	0.00009
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)	rs146200173	0.00007
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn)	rs139624145	0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu)	rs139043155	0.00004
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)	rs144614838	0.00003
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)	rs746118995	0.00003
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys)	rs368657165	0.00003
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)	rs121908039	0.00002
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met)	rs368562025	0.00001
NM_000527.5(LDLR):c.1898G>A (p.Arg633His)	rs754536745	0.00001
NM_000527.5(LDLR):c.2029T>C (p.Cys677Arg)	rs775092314	0.00001
NM_000527.5(LDLR):c.632A>T (p.His211Leu)	rs879254603	0.00001
NM_000527.5(LDLR):c.761A>C (p.Gln254Pro)	rs879254667	0.00001
NM_000527.5(LDLR):c.782G>T (p.Cys261Phe)	rs121908040	0.00001
NM_000527.5(LDLR):c.796G>A (p.Asp266Asn)	rs875989907	0.00001
NM_000527.5(LDLR):c.938G>A (p.Cys313Tyr)	rs875989911	0.00001
NM_000527.5(LDLR):c.1284del (p.Asn428fs)	rs2077409930
NM_000527.5(LDLR):c.1327T>C (p.Trp443Arg)	rs773566855
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)	rs373646964
NM_000527.5(LDLR):c.1640T>C (p.Leu547Pro)	rs879254968
NM_000527.5(LDLR):c.1705+1G>A	rs875989926
NM_000527.5(LDLR):c.1911del (p.Asp638fs)	rs867272973
NM_000527.5(LDLR):c.227_233del (p.Gly76fs)	rs2147216927
NM_000527.5(LDLR):c.420G>C (p.Glu140Asp)	rs879254520
NM_000527.5(LDLR):c.482T>A (p.Ile161Asn)	rs754933794
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg)	rs557344672

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