ClinVar Miner

List of variants in gene combination CFTR, LOC111674475 reported as pathogenic for Cystic fibrosis

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Total variants: 34
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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.1658G>A (p.Arg553Gln) rs121909044 0.00003
NM_000492.4(CFTR):c.1679G>C (p.Arg560Thr) rs80055610 0.00002
NM_000492.4(CFTR):c.1601C>A (p.Ala534Glu) rs387906368 0.00001
NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg) rs121909005 0.00001
NM_000492.4(CFTR):c.1673T>C (p.Leu558Ser) rs193922504 0.00001
NC_000007.14:g.(?_117587719)_(117587867_?)del
NM_000492.4(CFTR):c.1585-2A>G rs397508233
NM_000492.4(CFTR):c.1585-2A>T rs397508233
NM_000492.4(CFTR):c.1585-8G>A rs193922503
NM_000492.4(CFTR):c.1586_1679+1del rs1562906265
NM_000492.4(CFTR):c.1592_1593delinsG (p.Ile530_Ser531insTer)
NM_000492.4(CFTR):c.1615del (p.Asn538_Ile539insTer)
NM_000492.4(CFTR):c.1616_1617dup (p.Val540Ter) rs1584810167
NM_000492.4(CFTR):c.1625del (p.Gly542fs) rs2116017718
NM_000492.4(CFTR):c.1642_1643del (p.Leu548fs) rs397508246
NM_000492.4(CFTR):c.1645A>C (p.Ser549Arg) rs121908757
NM_000492.4(CFTR):c.1646G>T (p.Ser549Ile) rs121908755
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.1656del (p.Gln552fs) rs397508253
NM_000492.4(CFTR):c.1670del (p.Ser557fs) rs397508257
NM_000492.4(CFTR):c.1674del (p.Ala559fs) rs397508258
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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