ClinVar Miner

List of variants in gene combination CFTR, LOC111674475 reported as pathogenic by CFTR2

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter) rs113993959 0.00029
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp) rs75527207 0.00022
NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter) rs74597325 0.00012
NM_000492.4(CFTR):c.1585-1G>A rs76713772 0.00008
NM_000492.4(CFTR):c.1646G>A (p.Ser549Asn) rs121908755 0.00006
NM_000492.4(CFTR):c.1675G>A (p.Ala559Thr) rs75549581 0.00006
NM_000492.4(CFTR):c.1679G>C (p.Arg560Thr) rs80055610 0.00002
NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg) rs121909005 0.00001
NM_000492.4(CFTR):c.1673T>C (p.Leu558Ser) rs193922504 0.00001
NM_000492.4(CFTR):c.1585-8G>A rs193922503
NM_000492.4(CFTR):c.1645A>C (p.Ser549Arg) rs121908757
NM_000492.4(CFTR):c.1647T>A (p.Ser549Arg) rs121909005
NM_000492.4(CFTR):c.1648G>T (p.Gly550Ter) rs397508247
NM_000492.4(CFTR):c.1650del (p.Gly551fs) rs397508251
NM_000492.4(CFTR):c.1651G>A (p.Gly551Ser) rs121909013
NM_000492.4(CFTR):c.1654C>T (p.Gln552Ter) rs76554633
NM_000492.4(CFTR):c.1670del (p.Ser557fs) rs397508257
NM_000492.4(CFTR):c.1679+1G>A rs397508263
NM_000492.4(CFTR):c.1679+1G>C rs397508263
NM_000492.4(CFTR):c.1679G>A (p.Arg560Lys) rs80055610

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