ClinVar Miner

List of variants reported as likely benign for tracheal disorder by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_001038.6(SCNN1A):c.540G>T (p.Leu180=) rs55859427 0.01886
NM_000492.4(CFTR):c.-887C>T rs34465975 0.01630
NM_001039.4(SCNN1G):c.435C>T (p.Ser145=) rs62639702 0.00695
NM_000336.3(SCNN1B):c.282C>T (p.Ala94=) rs139950628 0.00551
NM_001039.4(SCNN1G):c.589G>A (p.Glu197Lys) rs5738 0.00548
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098 0.00519
NM_002133.3(HMOX1):c.378C>T (p.Pro126=) rs73885946 0.00399
NM_001038.6(SCNN1A):c.684+9C>T rs111317117 0.00378
NM_001039.4(SCNN1G):c.1570-9G>A rs72647540 0.00354
NM_000492.4(CFTR):c.1210-13del rs750294275 0.00222
NM_000336.3(SCNN1B):c.1731C>T (p.Thr577=) rs61759923 0.00210
NM_002421.4(MMP1):c.248C>A (p.Thr83Asn) rs143788145 0.00209
NM_000492.4(CFTR):c.1210-15del rs371831442 0.00192
NM_000336.3(SCNN1B):c.1765G>A (p.Gly589Ser) rs61759926 0.00180
NM_000492.4(CFTR):c.853A>T (p.Ile285Phe) rs151073129 0.00145
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.657C>T (p.Tyr219=) rs746821073 0.00034
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.1376T>C (p.Met459Thr) rs201369319 0.00011
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_001039.4(SCNN1G):c.699C>T (p.His233=) rs192839222 0.00009
NM_000336.3(SCNN1B):c.177C>T (p.Phe59=) rs778937866 0.00004
NM_000336.3(SCNN1B):c.1900G>C (p.Asp634His) rs776613953 0.00004
NM_000336.3(SCNN1B):c.617G>A (p.Arg206Gln) rs201279350 0.00003
NM_001039.4(SCNN1G):c.1455T>C (p.Thr485=) rs1270059843 0.00001
NM_000336.3(SCNN1B):c.1041C>T (p.Leu347=)
NM_001038.6(SCNN1A):c.1109G>A (p.Arg370Gln)
NM_001038.6(SCNN1A):c.1440C>T (p.Ser480=)
NM_001038.6(SCNN1A):c.540_541delinsTT (p.Arg181Trp) rs876657425
NM_001039.4(SCNN1G):c.1550T>A (p.Met517Lys)
NM_001039.4(SCNN1G):c.819G>C (p.Thr273=) rs201341816

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