ClinVar Miner

List of variants reported as pathogenic for bronchiectasis with or without elevated sweat chloride 2 by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_001038.6(SCNN1A):c.1477T>C (p.Trp493Arg) rs5742912
NM_001038.6(SCNN1A):c.241C>T (p.Arg81Cys) rs61759860
NM_001038.6(SCNN1A):c.340G>A (p.Val114Ile) rs61759861

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