List of variants in gene combination CFTR, LOC111674477 reported as pathogenic for Cystic fibrosis

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter)	rs374705585	0.00002
NM_000492.4(CFTR):c.4364C>G (p.Ser1455Ter)	rs121909043	0.00001
NC_000007.14:g.117664688_117667108del
NM_000492.4(CFTR):c.3964-78_4242+577del
NM_000492.4(CFTR):c.4251del (p.Glu1418fs)	rs397508706
NM_000492.4(CFTR):c.4252G>T (p.Glu1418Ter)	rs397508707
NM_000492.4(CFTR):c.4272C>A (p.Tyr1424Ter)	rs1800135
NM_000492.4(CFTR):c.4272C>G (p.Tyr1424Ter)	rs1800135
NM_000492.4(CFTR):c.4297G>T (p.Glu1433Ter)	rs750559671
NM_000492.4(CFTR):c.4300_4301dup (p.Ser1435fs)	rs397508709
NM_000492.4(CFTR):c.4315C>T (p.Gln1439Ter)
NM_000492.4(CFTR):c.4325del (p.Ser1442fs)
NM_000492.4(CFTR):c.4329del (p.Ser1444fs)	rs1554397769
NM_000492.4(CFTR):c.4340del (p.Val1447fs)	rs2116226496
NM_000492.4(CFTR):c.4387_4388del (p.Gln1463fs)	rs2116226651
NM_000492.4(CFTR):c.4392del (p.Ile1464fs)	rs1793395260
NM_000492.4(CFTR):c.4417G>T (p.Glu1473Ter)	rs397508716

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