ClinVar Miner

List of variants in gene SCNN1A studied for bronchiectasis with or without elevated sweat chloride 2

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 91
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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.1477T>C (p.Trp493Arg) rs5742912 0.01653
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.1554-6C>T rs376456435 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.*352A>G rs72657536 0.00021
NM_001038.6(SCNN1A):c.*727A>G rs549856051 0.00020
NM_001038.6(SCNN1A):c.1426C>T (p.Arg476Trp) rs113622727 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.340G>A (p.Val114Ile) rs61759861 0.00018
NM_001038.6(SCNN1A):c.1435T>C (p.Cys479Arg) rs201873521 0.00016
NM_001038.6(SCNN1A):c.*4G>A rs557017986 0.00014
NM_001038.6(SCNN1A):c.*542G>A rs920293100 0.00012
NM_001038.6(SCNN1A):c.1074A>G (p.Glu358=) rs149430403 0.00011
NM_001038.6(SCNN1A):c.1554A>G (p.Arg518=) rs570566104 0.00010
NM_001038.6(SCNN1A):c.1686G>A (p.Ser562=) rs199526819 0.00010
NM_001038.6(SCNN1A):c.997C>T (p.Arg333Cys) rs146177203 0.00010
NM_001038.6(SCNN1A):c.1394C>T (p.Ser465Phe) rs369382063 0.00007
NM_001038.6(SCNN1A):c.*114G>A rs886049756 0.00006
NM_001038.6(SCNN1A):c.*468C>T rs1336335704 0.00006
NM_001038.6(SCNN1A):c.385G>A (p.Ala129Thr) rs141756749 0.00006
NM_001038.6(SCNN1A):c.746G>A (p.Arg249Lys) rs142409152 0.00006
NM_001038.6(SCNN1A):c.1299C>T (p.Tyr433=) rs375712066 0.00005
NM_001038.6(SCNN1A):c.1523G>A (p.Arg508Gln) rs763359949 0.00005
NM_001038.6(SCNN1A):c.*69A>G rs1230500939 0.00004
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.1048C>G (p.Arg350Gly) rs181065138 0.00003
NM_001038.6(SCNN1A):c.1177G>A (p.Asp393Asn) rs886049758 0.00003
NM_001038.6(SCNN1A):c.1771C>T (p.Arg591Ter) rs771949339 0.00003
NM_001038.6(SCNN1A):c.1241A>G (p.Gln414Arg) rs886049757 0.00002
NM_001038.6(SCNN1A):c.1801G>C (p.Gly601Arg) rs755287192 0.00002
NM_001038.6(SCNN1A):c.319G>A (p.Gly107Arg) rs144763378 0.00002
NM_001038.6(SCNN1A):c.457A>T (p.Ile153Phe) rs775335440 0.00002
NM_001038.6(SCNN1A):c.*180T>C rs1045767188 0.00001
NM_001038.6(SCNN1A):c.*590C>G rs886049753 0.00001
NM_001038.6(SCNN1A):c.*666T>C rs891843136 0.00001
NM_001038.6(SCNN1A):c.*736T>G rs886049752 0.00001
NM_001038.6(SCNN1A):c.1451A>G (p.Tyr484Cys) rs1565475355 0.00001
NM_001038.6(SCNN1A):c.417-15C>T rs1366336758 0.00001
NM_001038.6(SCNN1A):c.574del (p.Arg192fs) rs767638989 0.00001
NM_001038.6(SCNN1A):c.648G>A (p.Gln216=) rs780536807 0.00001
NM_001038.6(SCNN1A):c.777C>G (p.Ile259Met) rs866913999 0.00001
NM_001038.6(SCNN1A):c.826G>T (p.Gly276Cys) rs759933475 0.00001
NM_001038.6(SCNN1A):c.944A>G (p.Asn315Ser) rs886049759 0.00001
NM_001038.6(SCNN1A):c.*1020G>T rs1565473402
NM_001038.6(SCNN1A):c.*386G>A rs1948277951
NM_001038.6(SCNN1A):c.*415C>T rs886049755
NM_001038.6(SCNN1A):c.*580A>C rs886049754
NM_001038.6(SCNN1A):c.-54-13G>A rs573341191
NM_001038.6(SCNN1A):c.1073A>G (p.Glu358Gly) rs569195112
NM_001038.6(SCNN1A):c.133G>C (p.Glu45Gln)
NM_001038.6(SCNN1A):c.1361-3C>G
NM_001038.6(SCNN1A):c.1361G>A (p.Gly454Glu) rs72657557
NM_001038.6(SCNN1A):c.1439+1G>A rs1369791519
NM_001038.6(SCNN1A):c.147C>T (p.Ile49=) rs200770604
NM_001038.6(SCNN1A):c.1491A>G (p.Thr497=) rs1948324086
NM_001038.6(SCNN1A):c.1522C>T (p.Arg508Ter) rs137852634
NM_001038.6(SCNN1A):c.1629G>A (p.Thr543=)
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.241C>T (p.Arg81Cys) rs61759860
NM_001038.6(SCNN1A):c.540_541delinsTT (p.Arg181Trp) rs876657425
NM_001038.6(SCNN1A):c.541C>T (p.Arg181Trp) rs55797039
NM_001038.6(SCNN1A):c.69del (p.Asn24fs) rs1565488675
NM_001038.6(SCNN1A):c.74A>G (p.Lys25Arg) rs768767909

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