List of variants in gene CFTR reported as benign by Ambry Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.1408G>A (p.Val470Met)	rs213950	0.56732
NM_000492.4(CFTR):c.1680-870T>A	rs213965	0.55332
NM_000492.4(CFTR):c.2562T>G (p.Thr854=)	rs1042077	0.44737
NM_000492.4(CFTR):c.1393-61A>G	rs34855237	0.25355
NM_000492.4(CFTR):c.869+11C>T	rs1800503	0.07590
NM_000492.4(CFTR):c.3870A>G (p.Pro1290=)	rs1800130	0.07467
NM_000492.4(CFTR):c.1584G>A (p.Glu528=)	rs1800095	0.01670
NM_000492.4(CFTR):c.2898G>A (p.Thr966=)	rs1800109	0.00907
NM_000492.4(CFTR):c.164+28A>G	rs34010645	0.00589
NM_000492.4(CFTR):c.1581A>G (p.Glu527=)	rs1800094	0.00491
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly)	rs121909046	0.00335
NM_000492.4(CFTR):c.4242+13A>G	rs76179227	0.00295
NM_000492.4(CFTR):c.2620-15C>G	rs139379077	0.00212
NM_000492.4(CFTR):c.1393-42G>A	rs34906874	0.00148
NM_000492.4(CFTR):c.2820T>G (p.Thr940=)	rs60887846	0.00148
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr)	rs35516286	0.00083
NM_000492.4(CFTR):c.3469-17T>C	rs199630678	0.00041
NM_000492.4(CFTR):c.1516A>G (p.Ile506Val)	rs1800091	0.00034
NM_000492.4(CFTR):c.1584+12T>C	rs193922502	0.00028
NM_000492.4(CFTR):c.1519A>G (p.Ile507Val)	rs1801178	0.00006
NM_000492.4(CFTR):c.3469-20T>C	rs373002889	0.00005
NM_000492.4(CFTR):c.3789T>C (p.Thr1263=)	rs200921635	0.00002
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln)	rs1800076
NM_000492.4(CFTR):c.744-33GATT[5]	rs1805171
NM_000492.4(CFTR):c.744-33GATT[6]	rs1805171
NM_000492.4(CFTR):c.744-33GATT[8]	rs1805171
NM_000492.4(CFTR):c.870-7_870-5del	rs759762840

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