ClinVar Miner

List of variants in gene SCNN1A reported as likely pathogenic for bronchiectasis with or without elevated sweat chloride 2

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001038.6(SCNN1A):c.1435T>C (p.Cys479Arg) rs201873521 0.00016
NM_001038.6(SCNN1A):c.1439+1G>A rs1369791519
NM_001038.6(SCNN1A):c.1522C>T (p.Arg508Ter) rs137852634
NM_001038.6(SCNN1A):c.69del (p.Asn24fs) rs1565488675

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