List of variants reported as likely pathogenic for congenital bile acid synthesis defect 2 by Fulgent Genetics, Fulgent Genetics

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_005989.4(AKR1D1):c.864del (p.Ser290fs)	rs759908186	0.00004
NM_005989.4(AKR1D1):c.398C>G (p.Pro133Arg)	rs267606649	0.00002
NM_005989.4(AKR1D1):c.148C>T (p.Arg50Ter)	rs749224036	0.00001
NM_005989.4(AKR1D1):c.583G>T (p.Glu195Ter)	rs1433614577	0.00001
NM_005989.4(AKR1D1):c.174_175del (p.Tyr58_Gln59delinsTer)

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