List of variants in gene SCNN1A reported as pathogenic for Pseudohypoaldosteronism, type IB1, autosomal recessive; Bronchiectasis with or without elevated sweat chloride 2; Liddle syndrome 3

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001038.6(SCNN1A):c.1449del (p.Tyr484fs)	rs756434927	0.00001
NM_001038.6(SCNN1A):c.574del (p.Arg192fs)	rs767638989	0.00001
NM_001038.6(SCNN1A):c.875+1G>A	rs142439390	0.00001
NM_001038.6(SCNN1A):c.1361-3C>G
NM_001038.6(SCNN1A):c.1474C>T (p.Arg492Ter)
NM_001038.6(SCNN1A):c.505_506del (p.Thr169fs)

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