List of variants in gene CYP27A1 reported as likely pathogenic by Myriad Genetics, Inc.

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His)	rs587778778	0.00011
NM_000784.4(CYP27A1):c.1061del (p.Asp354fs)
NM_000784.4(CYP27A1):c.1126C>T (p.Gln376Ter)
NM_000784.4(CYP27A1):c.264C>A (p.Tyr88Ter)	rs1943689487
NM_000784.4(CYP27A1):c.287G>A (p.Trp96Ter)	rs1943689766
NM_000784.4(CYP27A1):c.307C>T (p.Gln103Ter)	rs1943689944
NM_000784.4(CYP27A1):c.358C>T (p.Gln120Ter)	rs1943690848
NM_000784.4(CYP27A1):c.395del (p.Leu132fs)
NM_000784.4(CYP27A1):c.426_430del (p.Thr143fs)
NM_000784.4(CYP27A1):c.494T>A (p.Leu165Ter)
NM_000784.4(CYP27A1):c.608C>A (p.Ser203Ter)	rs186812403
NM_000784.4(CYP27A1):c.657C>A (p.Tyr219Ter)	rs1414259537
NM_000784.4(CYP27A1):c.685_688del (p.Leu229fs)
NM_000784.4(CYP27A1):c.703G>T (p.Glu235Ter)
NM_000784.4(CYP27A1):c.724A>T (p.Arg242Ter)
NM_000784.4(CYP27A1):c.803G>A (p.Trp268Ter)	rs1943736070
NM_000784.4(CYP27A1):c.955C>T (p.Gln319Ter)	rs1943741125

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