ClinVar Miner

List of variants reported as uncertain significance for bronchial disorder by Johns Hopkins Genomics, Johns Hopkins University

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
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_001038.6(SCNN1A):c.1426C>T (p.Arg476Trp) rs113622727 0.00020
NM_001038.6(SCNN1A):c.1523G>A (p.Arg508Gln) rs763359949 0.00005
NM_001039.4(SCNN1G):c.564C>A (p.His188Gln) rs899371749 0.00003
NM_001038.6(SCNN1A):c.457A>T (p.Ile153Phe) rs775335440 0.00002
NM_000336.3(SCNN1B):c.1328T>C (p.Met443Thr)
NM_000336.3(SCNN1B):c.1329G>A (p.Met443Ile)
NM_000336.3(SCNN1B):c.372G>T (p.Glu124Asp)
NM_001038.6(SCNN1A):c.133G>C (p.Glu45Gln)
NM_001039.4(SCNN1G):c.1654G>A (p.Val552Ile) rs2141946564
NM_001039.4(SCNN1G):c.201C>G (p.Ile67Met)

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