ClinVar Miner

List of variants in gene combination CFTR, LOC111674475 reported as uncertain significance by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.1679+16T>C rs397508262 0.00013
NM_000492.4(CFTR):c.1679+18G>A rs369294289 0.00006
NM_000492.4(CFTR):c.1600G>T (p.Ala534Ser) rs1276867493 0.00003
NM_000492.4(CFTR):c.1630G>A (p.Gly544Ser) rs762224063 0.00003
NM_000492.4(CFTR):c.1601C>A (p.Ala534Glu) rs387906368 0.00001
NM_000492.4(CFTR):c.1606A>G (p.Lys536Glu) rs148173473 0.00001
NM_000492.4(CFTR):c.1616T>C (p.Ile539Thr) rs144745159 0.00001
NM_000492.4(CFTR):c.1589T>A (p.Ile530Asn)
NM_000492.4(CFTR):c.1590C>G (p.Ile530Met)
NM_000492.4(CFTR):c.1597T>C (p.Phe533Leu) rs397508238
NM_000492.4(CFTR):c.1625G>A (p.Gly542Glu)
NM_000492.4(CFTR):c.1669T>A (p.Ser557Thr)
NM_000492.4(CFTR):c.1675G>C (p.Ala559Pro)
NM_000492.4(CFTR):c.1678A>G (p.Arg560Gly) rs397508260
NM_000492.4(CFTR):c.1679+18G>T rs369294289
NM_000492.4(CFTR):c.1680-992dup rs1791993504

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