List of variants reported as likely pathogenic for Familial hypercholesterolemia by Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000527.5(LDLR):c.1247G>A (p.Arg416Gln)	rs773658037	0.00003
NM_000527.5(LDLR):c.1061-1G>C	rs879254774	0.00001
NM_000527.5(LDLR):c.1307T>C (p.Val436Ala)	rs779732323	0.00001
NM_000527.5(LDLR):c.1592T>A (p.Met531Lys)	rs779913921	0.00001
NM_000527.5(LDLR):c.631C>T (p.His211Tyr)	rs771917370	0.00001
NM_000527.5(LDLR):c.632A>T (p.His211Leu)	rs879254603	0.00001
NC_000019.10:g.11089397C>T
NM_000384.3(APOB):c.5551_5558del (p.Tyr1851fs)
NM_000527.5(LDLR):c.1214_1217dup (p.His407fs)	rs2077407494
NM_000527.5(LDLR):c.1252G>A (p.Glu418Lys)
NM_000527.5(LDLR):c.2045T>G (p.Leu682Arg)	rs879255119
NM_000527.5(LDLR):c.2120A>T (p.Asp707Val)	rs879255143
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
NM_000527.5(LDLR):c.2546C>A (p.Ser849Ter)	rs377437226
NM_000527.5(LDLR):c.542C>T (p.Pro181Leu)
NM_000527.5(LDLR):c.695-1G>A	rs879254652
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)

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