ClinVar Miner

List of variants in gene combination CFTR, LOC111674475 reported as not provided for Cystic fibrosis

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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.1679G>C (p.Arg560Thr) rs80055610 0.00002
NM_000492.4(CFTR):c.1679+5A>G rs397508264 0.00001
NM_000492.4(CFTR):c.1585-2A>G rs397508233
NM_000492.4(CFTR):c.1585-9T>A rs397508234
NM_000492.4(CFTR):c.1588A>C (p.Ile530Leu) rs397508237
NM_000492.4(CFTR):c.1597T>C (p.Phe533Leu) rs397508238
NM_000492.4(CFTR):c.1606A>T (p.Lys536Ter) rs148173473
NM_000492.4(CFTR):c.1611_1612del (p.Asp537fs) rs397508239
NM_000492.4(CFTR):c.1631G>T (p.Gly544Val) rs397508241
NM_000492.4(CFTR):c.1648G>A (p.Gly550Arg) rs397508247
NM_000492.4(CFTR):c.1652del (p.Gly551fs) rs397508252
NM_000492.4(CFTR):c.1657C>G (p.Arg553Gly) rs74597325
NM_000492.4(CFTR):c.1660_1661insA (p.Ala554fs) rs397508254
NM_000492.4(CFTR):c.1663A>G (p.Arg555Gly) rs397508255
NM_000492.4(CFTR):c.1670del (p.Ser557fs) rs397508257
NM_000492.4(CFTR):c.1678A>G (p.Arg560Gly) rs397508260

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