ClinVar Miner

List of variants in gene CFTR reported as benign by ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories

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Total variants: 16
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HGVS dbSNP
NM_000492.3(CFTR):c.1210-13G>T rs10229820
NM_000492.3(CFTR):c.1210-15_1210-12delGTGT rs3832534
NM_000492.3(CFTR):c.1210-17_1210-12del rs3832534
NM_000492.3(CFTR):c.1210-34TG[10] rs3832534
NM_000492.3(CFTR):c.1581A>G (p.Glu527=) rs1800094
NM_000492.3(CFTR):c.1920T>C (p.Phe640=) rs145877746
NM_000492.3(CFTR):c.2562T>G (p.Thr854=) rs1042077
NM_000492.3(CFTR):c.2735C>T (p.Ser912Leu) rs121909034
NM_000492.3(CFTR):c.2898G>A (p.Thr966=) rs1800109
NM_000492.3(CFTR):c.3870A>G (p.Pro1290=) rs1800130
NM_000492.3(CFTR):c.3897A>G (p.Thr1299=) rs1800131
NM_000492.3(CFTR):c.4242+13A>G rs76179227
NM_000492.3(CFTR):c.443T>C (p.Ile148Thr) rs35516286
NM_000492.3(CFTR):c.743+40A>G rs1800502
NM_000492.3(CFTR):c.744-33GATT[6] rs1805171
NM_000492.3(CFTR):c.869+11C>T rs1800503

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