List of variants in gene CFTR reported as likely pathogenic for Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation

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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: 34

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HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.1210-11T>G	rs73715573	0.00886
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp)	rs121908759	0.00039
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr)	rs147422190	0.00034
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr)	rs139468767	0.00016
NM_000492.4(CFTR):c.1046C>T (p.Ala349Val)	rs121909021	0.00015
NM_000492.4(CFTR):c.3908A>T (p.Asn1303Ile)	rs397508636	0.00006
NM_000492.4(CFTR):c.571T>G (p.Phe191Val)	rs141482808	0.00006
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu)	rs193922501	0.00003
NM_000492.4(CFTR):c.1580A>G (p.Glu527Gly)	rs374453187	0.00002
NM_000492.4(CFTR):c.1394C>A (p.Thr465Asn)	rs758900656	0.00001
NM_000492.4(CFTR):c.1438G>T (p.Gly480Cys)	rs79282516	0.00001
NM_000492.4(CFTR):c.1721C>A (p.Pro574His)	rs121908758	0.00001
NM_000492.4(CFTR):c.2126G>A (p.Arg709Gln)	rs397508342	0.00001
NM_000492.4(CFTR):c.2738A>G (p.Tyr913Cys)	rs121909008	0.00001
NM_000492.4(CFTR):c.2909G>A (p.Gly970Asp)	rs386134230	0.00001
NM_000492.4(CFTR):c.293A>G (p.Gln98Arg)	rs397508464	0.00001
NM_000492.4(CFTR):c.377G>A (p.Gly126Asp)	rs397508609	0.00001
NM_000492.4(CFTR):c.695T>A (p.Val232Asp)	rs397508783	0.00001
NM_000492.4(CFTR):c.859A>T (p.Asn287Tyr)	rs397508804	0.00001
NM_000492.4(CFTR):c.941G>A (p.Gly314Glu)	rs75763344	0.00001
NM_000492.3(CFTR):c.2805_2810delinsTCAGA (p.Pro936fs)	rs1554391033
NM_000492.4(CFTR):c.1040G>T (p.Arg347Leu)	rs77932196
NM_000492.4(CFTR):c.1141A>T (p.Lys381Ter)	rs1554381605
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala)	rs193922500
NM_000492.4(CFTR):c.1469del (p.Phe490fs)	rs775663783
NM_000492.4(CFTR):c.1516A>C (p.Ile506Leu)	rs1800091
NM_000492.4(CFTR):c.1766G>T (p.Ser589Ile)	rs397508300
NM_000492.4(CFTR):c.1825C>T (p.His609Tyr)	rs2116030305
NM_000492.4(CFTR):c.253G>T (p.Gly85Ter)	rs1584776437
NM_000492.4(CFTR):c.2644_2645dup (p.Trp882fs)	rs1554390864
NM_000492.4(CFTR):c.3796G>T (p.Glu1266Ter)	rs1584837090
NM_000492.4(CFTR):c.38C>T (p.Ser13Phe)	rs397508635
NM_000492.4(CFTR):c.3988_3989del (p.Gln1330fs)	rs1057516457
NM_000492.4(CFTR):c.443T>A (p.Ile148Asn)	rs35516286

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