ClinVar Miner

List of variants reported as uncertain significance for inborn disorder of bile acid synthesis by Baylor Genetics

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_001136018.4(EPHX1):c.823A>G (p.Thr275Ala)	rs35073925	0.00044
NM_000784.4(CYP27A1):c.614T>C (p.Met205Thr)	rs1943727741
NM_004817.4(TJP2):c.659G>T (p.Ser220Ile)	rs752106855

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