ClinVar Miner

List of variants in gene CFTR reported as uncertain significance by Baylor Genetics

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser) rs1800110 0.00106
NM_000492.4(CFTR):c.958T>G (p.Leu320Val) rs144476686 0.00043
NM_000492.4(CFTR):c.31G>A (p.Val11Ile) rs1800072 0.00019
NM_000492.4(CFTR):c.902A>G (p.Tyr301Cys) rs150691494 0.00019
NM_000492.4(CFTR):c.1046C>T (p.Ala349Val) rs121909021 0.00015
NM_000492.4(CFTR):c.1731C>T (p.Tyr577=) rs55928397 0.00009
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile) rs151048781 0.00006
NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe) rs1800089 0.00005
NM_000492.4(CFTR):c.638G>A (p.Gly213Glu) rs775701644 0.00004
NM_000492.4(CFTR):c.1144A>C (p.Thr382Pro)
NM_000492.4(CFTR):c.389T>C (p.Leu130Pro) rs1798853976
NM_000492.4(CFTR):c.407T>G (p.Leu136Arg) rs1798854681
NM_000492.4(CFTR):c.490-25A>G rs1798909647

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