ClinVar Miner

List of variants in gene CFTR reported as pathogenic by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.2988+1G>A rs75096551 0.00030
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp) rs121909011 0.00009
NM_000492.4(CFTR):c.2657+5G>A rs80224560 0.00006
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu) rs397508442 0.00004
NM_000492.4(CFTR):c.1397C>G (p.Ser466Ter) rs121908805 0.00003
NM_000492.3(CFTR):c.13196C>T rs1554398510
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.1234_1238del (p.Ala412fs) rs3034796
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys) rs77834169
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.4(CFTR):c.409del (p.Leu137fs) rs397508672

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