ClinVar Miner

List of variants reported as likely benign for Bronchiectasis with or without elevated sweat chloride 1; Liddle syndrome 1; Autosomal recessive pseudohypoaldosteronism type 1 by Fulgent Genetics, Fulgent Genetics

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000336.3(SCNN1B):c.282C>T (p.Ala94=) rs139950628 0.00551
NM_000336.3(SCNN1B):c.1731C>T (p.Thr577=) rs61759923 0.00210
NM_000336.3(SCNN1B):c.1765G>A (p.Gly589Ser) rs61759926 0.00180
NM_000336.3(SCNN1B):c.147A>G (p.Lys49=) rs80027401 0.00141
NM_000336.3(SCNN1B):c.1152+10T>C rs72654341 0.00108
NM_000336.3(SCNN1B):c.1190G>T (p.Arg397Leu) rs61729789 0.00101
NM_000336.3(SCNN1B):c.1299C>T (p.Ser433=) rs149172890 0.00019
NM_000336.3(SCNN1B):c.1257C>T (p.Asp419=) rs2303155 0.00016
NM_000336.3(SCNN1B):c.177C>T (p.Phe59=) rs778937866 0.00004

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