List of variants reported as likely benign for congenital bile acid synthesis defect by Illumina Laboratory Services, Illumina

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Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_014324.6(AMACR):c.*963C>T	rs6898962	0.04660
NM_014324.6(AMACR):c.*617G>T	rs12659370	0.04114
NM_014324.6(AMACR):c.*1070C>T	rs16892064	0.03353
NM_014324.6(AMACR):c.*1961G>A	rs113746028	0.02910
NM_014324.6(AMACR):c.*1144A>G	rs840380	0.02385
NM_005989.4(AKR1D1):c.*58G>C	rs80147006	0.01470
NM_014324.6(AMACR):c.*982C>T	rs16892066	0.01163
NM_005989.4(AKR1D1):c.*1083T>C	rs12532715	0.01046
NM_014324.6(AMACR):c.*1804G>T	rs116206502	0.00859
NM_014324.6(AMACR):c.*976G>A	rs150664086	0.00754
NM_005989.4(AKR1D1):c.*1270T>C	rs184548096	0.00698
NM_005989.4(AKR1D1):c.*52G>A	rs147259015	0.00565
NM_014324.6(AMACR):c.837G>A (p.Thr279=)	rs35655488	0.00378
NM_005989.4(AKR1D1):c.*1100A>G	rs188178547	0.00228
NM_014324.6(AMACR):c.*1945A>G	rs79880451	0.00225
NM_005989.4(AKR1D1):c.*1219C>T	rs565111801	0.00161
NM_005989.4(AKR1D1):c.*417A>G	rs151234162	0.00131
NM_014324.6(AMACR):c.*1203A>G	rs190329271	0.00108
NM_014324.6(AMACR):c.*1928T>C	rs531992128	0.00079
NM_014324.6(AMACR):c.*1366A>G	rs530507195	0.00032
NM_005989.4(AKR1D1):c.262-7C>A	rs144365681	0.00021
NM_014324.6(AMACR):c.844G>C (p.Glu282Gln)	rs181341030	0.00014
NM_014324.6(AMACR):c.438G>A (p.Pro146=)	rs140523570	0.00013
NM_014324.6(AMACR):c.*449T>C	rs550502356	0.00007
NM_005989.4(AKR1D1):c.*1151A>G	rs548914228	0.00006
NM_005989.4(AKR1D1):c.*1149A>C	rs533559202	0.00001
NM_005989.4(AKR1D1):c.*372C>T	rs142266499

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