List of variants in gene SCNN1A reported as likely benign for pseudohypoaldosteronism

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

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001038.6(SCNN1A):c.540G>T (p.Leu180=)	rs55859427	0.01886
NM_001038.6(SCNN1A):c.*633G>T	rs62618735	0.01803
NM_001038.6(SCNN1A):c.1477T>C (p.Trp493Arg)	rs5742912	0.01653
NM_001038.6(SCNN1A):c.684+9C>T	rs111317117	0.00378
NM_001038.6(SCNN1A):c.*920C>T	rs72657532	0.00349
NM_001038.6(SCNN1A):c.*850C>T	rs62627411	0.00051
NM_001038.6(SCNN1A):c.*509T>G	rs150966071	0.00019
NM_001038.6(SCNN1A):c.*4G>A	rs557017986	0.00014
NM_001038.6(SCNN1A):c.1074A>G (p.Glu358=)	rs149430403	0.00011
NM_001038.6(SCNN1A):c.1554A>G (p.Arg518=)	rs570566104	0.00010
NM_001038.6(SCNN1A):c.1109G>A (p.Arg370Gln)
NM_001038.6(SCNN1A):c.1440C>T (p.Ser480=)
NM_001038.6(SCNN1A):c.1717G>A (p.Val573Ile)	rs59142484
NM_001038.6(SCNN1A):c.1949G>A (p.Arg650His)
NM_001038.6(SCNN1A):c.540_541delinsTT (p.Arg181Trp)	rs876657425
NM_001038.6(SCNN1A):c.541C>T (p.Arg181Trp)	rs55797039

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