List of variants studied for congenital bile acid synthesis defect by Genome-Nilou Lab

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_002858.4(ABCD3):c.1846-31C>G	rs3118109	0.98643
NM_003500.4(ACOX2):c.-26T>C	rs4681862	0.85007
NM_014324.6(AMACR):c.829G>A (p.Glu277Lys)	rs2278008	0.75062
NM_014324.6(AMACR):c.602T>C (p.Leu201Ser)	rs2287939	0.73966
NM_025193.4(HSD3B7):c.748A>G (p.Thr250Ala)	rs9938550	0.52796
NM_025193.4(HSD3B7):c.1068T>C (p.Arg356=)	rs2305880	0.52781
NM_014324.6(AMACR):c.25G>A (p.Val9Met)	rs3195676	0.42007
NM_004820.5(CYP7B1):c.122+19A>T	rs7842714	0.39118
NM_014324.6(AMACR):c.524G>A (p.Gly175Asp)	rs10941112	0.38660
NM_002858.4(ABCD3):c.162G>A (p.Lys54=)	rs16946	0.35872
NM_014324.6(AMACR):c.*663G>A	rs15612	0.21767
NM_014324.6(AMACR):c.*617G>T	rs12659370	0.04114
NM_003500.4(ACOX2):c.161-57C>G	rs7611026

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