ClinVar Miner

List of variants studied for Cystic fibrosis by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.2820T>G (p.Thr940=) rs60887846 0.00148
NM_000492.4(CFTR):c.*94C>T rs144214399 0.00051
NM_000492.4(CFTR):c.1394C>A (p.Thr465Asn) rs758900656 0.00001
NM_000492.4(CFTR):c.1141A>T (p.Lys381Ter) rs1554381605
NM_000492.4(CFTR):c.11C>A (p.Ser4Ter) rs397508173
NM_000492.4(CFTR):c.1373del (p.Gly458fs) rs397508196
NM_000492.4(CFTR):c.1882G>A (p.Gly628Arg) rs397508316
NM_000492.4(CFTR):c.2600T>G (p.Leu867Ter) rs397508404

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