ClinVar Miner

List of variants in gene CFTR reported as likely benign by Invitae

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Total variants: 29
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HGVS dbSNP
NM_000492.3(CFTR):c.1054C>T (p.Arg352Trp) rs193922497
NM_000492.3(CFTR):c.1365G>T (p.Ala455=) rs79074685
NM_000492.3(CFTR):c.1734A>G (p.Leu578=) rs201025424
NM_000492.3(CFTR):c.1920T>C (p.Phe640=) rs145877746
NM_000492.3(CFTR):c.2245C>T (p.Leu749=) rs151235408
NM_000492.3(CFTR):c.2475C>T (p.Asn825=) rs746961486
NM_000492.3(CFTR):c.2559T>C (p.Ile853=) rs1800104
NM_000492.3(CFTR):c.2604A>G (p.Val868=) rs1800105
NM_000492.3(CFTR):c.274-6T>C rs371315549
NM_000492.3(CFTR):c.3368-10G>A rs1060504847
NM_000492.3(CFTR):c.3468G>T (p.Leu1156Phe) rs139729994
NM_000492.3(CFTR):c.374T>C (p.Ile125Thr) rs141723617
NM_000492.3(CFTR):c.3759G>A (p.Leu1253=) rs117400534
NM_000492.3(CFTR):c.3789T>C (p.Thr1263=) rs200921635
NM_000492.3(CFTR):c.393T>C (p.Phe131=) rs1039221071
NM_000492.3(CFTR):c.406C>T (p.Leu136=) rs1351515691
NM_000492.3(CFTR):c.4092G>A (p.Ala1364=) rs148878126
NM_000492.3(CFTR):c.4095G>A (p.Lys1365=) rs759891255
NM_000492.3(CFTR):c.489+10C>G rs1447914513
NM_000492.3(CFTR):c.489+8T>G rs727504712
NM_000492.3(CFTR):c.589T>C (p.Leu197=) rs755619078
NM_000492.3(CFTR):c.663G>A (p.Ala221=) rs758147990
NM_000492.3(CFTR):c.66A>G (p.Pro22=) rs748899228
NM_000492.3(CFTR):c.738G>A (p.Lys246=) rs35033453
NM_000492.3(CFTR):c.744-6T>G rs878854022
NM_000492.3(CFTR):c.813T>G (p.Ser271=) rs1060504846
NM_000492.3(CFTR):c.927C>G (p.Ala309=) rs1800084
NM_000492.3(CFTR):c.927C>T (p.Ala309=) rs1800084
NM_000492.3(CFTR):c.954G>A (p.Val318=) rs766189605

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