ClinVar Miner

List of variants in gene CYP11B1 reported as likely pathogenic for glucocorticoid-remediable aldosteronism

Included ClinVar conditions (2):

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_000497.4(CYP11B1):c.125C>T (p.Pro42Leu)	rs193922538	0.00008
NM_000497.4(CYP11B1):c.124C>T (p.Pro42Ser)	rs104894069	0.00001

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