List of variants reported as likely pathogenic for inborn disorder of bile acid synthesis by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000784.4(CYP27A1):c.1017+1G>A	rs1943742261	0.00001
NC_000002.11:g.(?_219679083)_(219679753_?)del
NC_000002.11:g.(?_219679093)_(219679763_?)del
NM_000784.4(CYP27A1):c.1018-1G>C	rs1575206658
NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys)	rs587778781
NM_000784.4(CYP27A1):c.1421G>C (p.Arg474Pro)
NM_000784.4(CYP27A1):c.1436G>A (p.Arg479His)	rs199638075
NM_000784.4(CYP27A1):c.1436G>C (p.Arg479Pro)
NM_000784.4(CYP27A1):c.1436G>T (p.Arg479Leu)	rs199638075
NM_000784.4(CYP27A1):c.1459C>T (p.Gln487Ter)	rs1943770060
NM_000784.4(CYP27A1):c.410G>C (p.Arg137Pro)
NM_000784.4(CYP27A1):c.440_446+2del	rs2105978950
NM_000784.4(CYP27A1):c.447-1G>A	rs2105979879
NM_000784.4(CYP27A1):c.646+1G>A
NM_000784.4(CYP27A1):c.646+2T>C	rs1553616253
NM_000784.4(CYP27A1):c.804G>T (p.Trp268Cys)	rs1943736101

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