ClinVar Miner

List of variants in gene SCNN1A reported as benign for chronic obstructive pulmonary disease

Included ClinVar conditions (27):
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Gene type:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_001038.6(SCNN1A):c.1987A>G (p.Thr663Ala) rs2228576 0.75229
NM_001038.6(SCNN1A):c.1553+32G>A rs3764875 0.62475
NM_001038.6(SCNN1A):c.1000G>A (p.Ala334Thr) rs11542844 0.17402
NM_001038.6(SCNN1A):c.1853G>T (p.Cys618Phe) rs3741913 0.02955
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.978C>T (p.Asn326=) rs61731141 0.01509
NM_001038.6(SCNN1A):c.99C>T (p.Pro33=) rs13306619 0.00986
NM_001038.6(SCNN1A):c.*296C>T rs55981728 0.00844
NM_001038.6(SCNN1A):c.*914A>G rs62619209 0.00770
NM_001038.6(SCNN1A):c.*70T>C rs72657538 0.00731
NM_001038.6(SCNN1A):c.-48A>G rs150809388 0.00712
NM_001038.6(SCNN1A):c.-28T>C rs61759919 0.00673
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.*113C>T rs62620999 0.00121
NM_001038.6(SCNN1A):c.-54-14C>T rs61758858 0.00091
NM_001038.6(SCNN1A):c.1935C>T (p.Ala645=) rs370406973 0.00083
NM_001038.6(SCNN1A):c.*467C>A rs140681881 0.00081
NM_001038.6(SCNN1A):c.1484C>T (p.Ser495Leu) rs148749888 0.00078
NM_001038.6(SCNN1A):c.126G>A (p.Thr42=) rs138995556 0.00036
NM_001038.6(SCNN1A):c.840C>T (p.Phe280=) rs139335335 0.00036
NM_001038.6(SCNN1A):c.876-13C>T rs201235216 0.00033
NM_001038.6(SCNN1A):c.1216C>A (p.Leu406Ile) rs149484264 0.00029
NM_001038.6(SCNN1A):c.1485G>T (p.Ser495=) rs3764873 0.00022
NM_001038.6(SCNN1A):c.1559G>C (p.Gly520Ala) rs72657550 0.00022
NM_001038.6(SCNN1A):c.1554-6C>T rs376456435 0.00020
NM_001038.6(SCNN1A):c.*509T>G rs150966071 0.00019
NM_001038.6(SCNN1A):c.1497+6G>C rs144275086 0.00019
NM_001038.6(SCNN1A):c.1520C>T (p.Ser507Leu) rs148959452 0.00019
NM_001038.6(SCNN1A):c.1686G>A (p.Ser562=) rs199526819 0.00010
NM_001038.6(SCNN1A):c.746G>A (p.Arg249Lys) rs142409152 0.00009
NM_001038.6(SCNN1A):c.1299C>T (p.Tyr433=) rs375712066 0.00005
NM_001038.6(SCNN1A):c.1771C>T (p.Arg591Ter) rs771949339 0.00003
NM_001038.6(SCNN1A):c.826G>T (p.Gly276Cys) rs759933475 0.00001
NM_001038.6(SCNN1A):c.1073A>G (p.Glu358Gly) rs569195112
NM_001038.6(SCNN1A):c.147C>T (p.Ile49=) rs200770604
NM_001038.6(SCNN1A):c.1717G>A (p.Val573Ile) rs59142484
NM_001038.6(SCNN1A):c.2004G>T (p.Gly668=) rs539360032
NM_001038.6(SCNN1A):c.541C>T (p.Arg181Trp) rs55797039

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