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: 11

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HGVS	dbSNP	gnomAD frequency
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr)	rs376459828	0.00004
NM_000527.5(LDLR):c.1061-1G>C	rs879254774	0.00001
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn)	rs200727689	0.00001
NM_000527.4(LDLR):c.-152C>T
NM_000527.5(LDLR):c.1214_1217dup (p.His407fs)	rs2077407494
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.695-1G>A	rs879254652
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)

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