ClinVar Miner

List of variants studied for inborn disorder of bile acid synthesis by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000784.4(CYP27A1):c.1184+1G>A rs587778777 0.00009
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp) rs121908098 0.00001

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