ClinVar Miner

List of variants reported as likely pathogenic for inborn disorder of bile acid synthesis by Revvity Omics, Revvity

Included ClinVar conditions (5):

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

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln)	rs587778818	0.00004
NM_000784.4(CYP27A1):c.2T>C (p.Met1Thr)	rs759003992	0.00001
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly)	rs72551322

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