List of variants reported as likely benign for abetalipoproteinemia by Illumina Laboratory Services, Illumina

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_174936.4(PCSK9):c.*537del	rs72646535	0.02413
NM_001386140.1(MTTP):c.2636A>G (p.Lys879Arg)	rs114049933	0.01021
NM_001386140.1(MTTP):c.*515G>A	rs116005476	0.00885
NM_001386140.1(MTTP):c.-6G>A	rs41275707	0.00276
NM_001386140.1(MTTP):c.1557+7T>A	rs142706742	0.00266
NM_001386140.1(MTTP):c.2513+13G>A	rs148073215	0.00176
NM_001386140.1(MTTP):c.*694A>C	rs187658213	0.00089
NM_001386140.1(MTTP):c.*468A>C	rs556582995	0.00012
NM_001386140.1(MTTP):c.124G>A (p.Val42Ile)	rs756998920	0.00009
NM_000384.3(APOB):c.6936_6937inv (p.Ile2313Val)
NM_001386140.1(MTTP):c.490A>G (p.Thr164Ala)	rs563558722
NM_174936.4(PCSK9):c.*1247AAAC[2]	rs368406783
NM_174936.4(PCSK9):c.*448dup	rs72646533

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