ClinVar Miner

List of variants in gene SCNN1G studied for bronchiectasis

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001039.4(SCNN1G):c.1176+14A>G rs5740 0.75623
NM_001039.4(SCNN1G):c.1493+33T>G rs13306654 0.21983
NM_001039.4(SCNN1G):c.1947C>G (p.Leu649=) rs5723 0.21902
NM_001039.4(SCNN1G):c.1494-49A>G rs11643517 0.21899
NM_001039.4(SCNN1G):c.1432-7G>A rs13306653 0.21894
NM_001039.4(SCNN1G):c.547G>A (p.Gly183Ser) rs5736 0.01206
NM_001039.4(SCNN1G):c.435C>T (p.Ser145=) rs62639702 0.00695
NM_001039.4(SCNN1G):c.589G>A (p.Glu197Lys) rs5738 0.00548
NM_001039.4(SCNN1G):c.1570-9G>A rs72647540 0.00354
NM_001039.4(SCNN1G):c.1589A>G (p.Asn530Ser) rs148985177 0.00069
NM_001039.4(SCNN1G):c.1532T>A (p.Leu511Gln) rs113234492 0.00024
NM_001039.4(SCNN1G):c.699C>T (p.His233=) rs192839222 0.00009
NM_001039.4(SCNN1G):c.470G>A (p.Arg157Gln) rs181420353 0.00006
NM_001039.4(SCNN1G):c.539G>A (p.Arg180Gln) rs546893551 0.00006
NM_001039.4(SCNN1G):c.564C>A (p.His188Gln) rs899371749 0.00003
NM_001039.4(SCNN1G):c.1400G>A (p.Ser467Asn) rs925384893 0.00002
NM_001039.4(SCNN1G):c.1187A>G (p.His396Arg) rs202142122 0.00001
NM_001039.4(SCNN1G):c.1455T>C (p.Thr485=) rs1270059843 0.00001
NM_001039.4(SCNN1G):c.1284C>T (p.His428=) rs749657510
NM_001039.4(SCNN1G):c.1373+29T>C rs12708649
NM_001039.4(SCNN1G):c.142dup (p.Arg48fs) rs1596760831
NM_001039.4(SCNN1G):c.1550T>C (p.Met517Thr) rs144653364
NM_001039.4(SCNN1G):c.1654G>A (p.Val552Ile) rs2141946564
NM_001039.4(SCNN1G):c.201C>G (p.Ile67Met)
NM_001039.4(SCNN1G):c.819G>C (p.Thr273=) rs201341816

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