List of variants studied for Congenital bile acid synthesis defect 6

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_003500.4(ACOX2):c.-26T>C	rs4681862	0.85007
NM_003500.4(ACOX2):c.475+18C>T	rs138268845	0.00726
NM_003500.4(ACOX2):c.182C>T (p.Pro61Leu)	rs149303910	0.00092
NM_003500.4(ACOX2):c.673C>T (p.Arg225Trp)	rs150832314	0.00022
NM_003500.4(ACOX2):c.149G>A (p.Arg50His)	rs763287775	0.00001
NM_003500.4(ACOX2):c.323+2T>C	rs751041263	0.00001
NM_003500.4(ACOX2):c.161-57C>G	rs7611026
NM_003500.4(ACOX2):c.1720C>T (p.Arg574Cys)
NM_003500.4(ACOX2):c.1983+2T>C
NM_003500.4(ACOX2):c.207T>A (p.Tyr69Ter)	rs1057519329
NM_003500.4(ACOX2):c.373G>A (p.Ala125Thr)
NM_003500.4(ACOX2):c.380G>A (p.Arg127Lys)	rs1453813439
NM_003500.4(ACOX2):c.461_464del (p.Thr154fs)	rs34391522
NM_003500.4(ACOX2):c.749C>T (p.Thr250Ile)

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