ClinVar Miner

List of variants reported as pathogenic for familial hypoaldosteronism by 3billion

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_000498.3(CYP11B2):c.554C>T (p.Thr185Ile)	rs121912978	0.00004
NM_000498.3(CYP11B2):c.763G>T (p.Glu255Ter)	rs121912977	0.00002
NM_000498.3(CYP11B2):c.1012C>T (p.Gln338Ter)

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