List of variants reported as likely pathogenic for congenital bile acid synthesis defect

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_014324.6(AMACR):c.154T>C (p.Ser52Pro)	rs121917814	0.00049
NM_003500.4(ACOX2):c.673C>T (p.Arg225Trp)	rs150832314	0.00022
NM_005989.4(AKR1D1):c.593C>T (p.Pro198Leu)	rs121918342	0.00011
NM_005989.4(AKR1D1):c.797G>A (p.Arg266Gln)	rs182820353	0.00004
NM_005989.4(AKR1D1):c.864del (p.Ser290fs)	rs759908186	0.00004
NM_005989.4(AKR1D1):c.332T>C (p.Leu111Pro)	rs187887082	0.00001
NM_005989.4(AKR1D1):c.509A>G (p.Asn170Ser)	rs753124330	0.00001
NM_003500.4(ACOX2):c.461_464del (p.Thr154fs)	rs34391522
NM_004820.5(CYP7B1):c.1286dup (p.Lys430fs)	rs1060502224
NM_005989.4(AKR1D1):c.796C>T (p.Arg266Ter)	rs770247815
NM_005989.4(AKR1D1):c.940T>C (p.Trp314Arg)	rs1315777461
NM_025193.4(HSD3B7):c.205C>T (p.Gln69Ter)
NM_025193.4(HSD3B7):c.431+2T>C

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