List of variants reported as likely benign for Congenital bile acid synthesis defect 2 by Illumina Laboratory Services, Illumina

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_005989.4(AKR1D1):c.*58G>C	rs80147006	0.01470
NM_005989.4(AKR1D1):c.*1083T>C	rs12532715	0.01046
NM_005989.4(AKR1D1):c.*1270T>C	rs184548096	0.00698
NM_005989.4(AKR1D1):c.*52G>A	rs147259015	0.00565
NM_005989.4(AKR1D1):c.*1100A>G	rs188178547	0.00228
NM_005989.4(AKR1D1):c.*1219C>T	rs565111801	0.00161
NM_005989.4(AKR1D1):c.*417A>G	rs151234162	0.00131
NM_005989.4(AKR1D1):c.262-7C>A	rs144365681	0.00021
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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