ClinVar Miner

List of variants in gene SCNN1A reported as likely benign for autosomal recessive pseudohypoaldosteronism type 1

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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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.1717G>A (p.Val573Ile) rs59142484
NM_001038.6(SCNN1A):c.540_541delinsTT (p.Arg181Trp) rs876657425
NM_001038.6(SCNN1A):c.541C>T (p.Arg181Trp) rs55797039

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