ClinVar Miner

List of variants reported as likely benign for Bronchiectasis with or without elevated sweat chloride 2

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001038.6(SCNN1A):c.1477T>C (p.Trp493Arg) rs5742912 0.01653
NM_001038.6(SCNN1A):c.*4G>A rs557017986 0.00014
NM_001038.6(SCNN1A):c.1394C>T (p.Ser465Phe) rs369382063 0.00007
NM_001038.6(SCNN1A):c.1766G>A (p.Arg589Gln) rs775290860 0.00004
NM_001038.6(SCNN1A):c.1805C>T (p.Ala602Val) rs751903373 0.00004
NM_001038.6(SCNN1A):c.1801G>C (p.Gly601Arg) rs755287192 0.00002
NM_001038.6(SCNN1A):c.541C>T (p.Arg181Trp) rs55797039

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