List of variants in gene CFTR studied for Cystic fibrosis; CFTR-related disorders

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 68

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HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp)	rs121908759	0.00039
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His)	rs75541969	0.00033
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp)	rs121908752	0.00013
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln)	rs397508137	0.00011
NM_000492.4(CFTR):c.2657+5G>A	rs80224560	0.00006
NM_000492.4(CFTR):c.571T>G (p.Phe191Val)	rs141482808	0.00006
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu)	rs397508442	0.00004
NM_000492.4(CFTR):c.3874-4522A>G	rs895394181	0.00004
NM_000492.4(CFTR):c.1040G>A (p.Arg347His)	rs77932196	0.00003
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu)	rs193922501	0.00003
NM_000492.4(CFTR):c.1841A>G (p.Asp614Gly)	rs201124247	0.00003
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=)	rs139729994	0.00003
NM_000492.4(CFTR):c.1405A>G (p.Met469Val)	rs397508203	0.00002
NM_000492.4(CFTR):c.1694A>G (p.Asp565Gly)	rs397508270	0.00002
NM_000492.4(CFTR):c.330C>A (p.Asp110Glu)	rs397508537	0.00002
NM_000492.4(CFTR):c.579+3A>G	rs397508761	0.00002
NM_000492.4(CFTR):c.1081del (p.Trp361fs)	rs387906361	0.00001
NM_000492.4(CFTR):c.1687T>A (p.Tyr563Asn)	rs121909006	0.00001
NM_000492.4(CFTR):c.1721C>A (p.Pro574His)	rs121908758	0.00001
NM_000492.4(CFTR):c.1826A>G (p.His609Arg)	rs397508310	0.00001
NM_000492.4(CFTR):c.2930C>T (p.Ser977Phe)	rs141033578	0.00001
NM_000492.4(CFTR):c.296C>T (p.Pro99Leu)	rs397508467	0.00001
NM_000492.4(CFTR):c.3612G>A (p.Trp1204Ter)	rs121908765	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_000492.3(CFTR):c.1210-12T[5]	rs1805177
NM_000492.3:c.54-?_164+?del
NM_000492.4(CFTR):c.1001G>T (p.Arg334Leu)	rs397508137
NM_000492.4(CFTR):c.1117-5A>G	rs397508161
NM_000492.4(CFTR):c.1210-9_1210-6del	rs1805177
NM_000492.4(CFTR):c.1330_1331del (p.Asp443_Ile444insTer)	rs397508190
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala)	rs193922500
NM_000492.4(CFTR):c.1397C>A (p.Ser466Ter)	rs121908805
NM_000492.4(CFTR):c.1471T>C (p.Cys491Arg)	rs397508213
NM_000492.4(CFTR):c.1501A>G (p.Thr501Ala)	rs397508221
NM_000492.4(CFTR):c.1538A>G (p.Asp513Gly)	rs397508225
NM_000492.4(CFTR):c.1736A>G (p.Asp579Gly)	rs397508288
NM_000492.4(CFTR):c.1801A>T (p.Ile601Phe)	rs397508306
NM_000492.4(CFTR):c.1811C>T (p.Thr604Ile)	rs397508308
NM_000492.4(CFTR):c.2044dup (p.Thr682fs)	rs1554389346
NM_000492.4(CFTR):c.2045dup (p.Gln685fs)	rs397508334
NM_000492.4(CFTR):c.2450del (p.Gly817fs)	rs1584812778
NM_000492.4(CFTR):c.2547C>A (p.Tyr849Ter)	rs397508394
NM_000492.4(CFTR):c.2556T>G (p.Tyr852Ter)	rs1584813819
NM_000492.4(CFTR):c.2600T>A (p.Leu867Ter)	rs397508404
NM_000492.4(CFTR):c.263T>G (p.Leu88Ter)	rs397508412
NM_000492.4(CFTR):c.2735C>A (p.Ser912Ter)	rs121909034
NM_000492.4(CFTR):c.274G>A (p.Glu92Lys)	rs121908751
NM_000492.4(CFTR):c.274G>T (p.Glu92Ter)	rs121908751
NM_000492.4(CFTR):c.2909-15T>G	rs397508455
NM_000492.4(CFTR):c.2936A>T (p.Asp979Val)	rs397508462
NM_000492.4(CFTR):c.296C>G (p.Pro99Arg)
NM_000492.4(CFTR):c.308del (p.Gly103fs)
NM_000492.4(CFTR):c.323C>T (p.Ser108Phe)	rs397508520
NM_000492.4(CFTR):c.328G>C (p.Asp110His)	rs113993958
NM_000492.4(CFTR):c.3419_3421del (p.Met1140del)	rs397508557
NM_000492.4(CFTR):c.346G>A (p.Glu116Lys)	rs397508571
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys)	rs77834169
NM_000492.4(CFTR):c.3617C>G (p.Ser1206Ter)	rs397508588
NM_000492.4(CFTR):c.3717+40A>G	rs397508595
NM_000492.4(CFTR):c.3872A>G (p.Gln1291Arg)	rs397508621
NM_000492.4(CFTR):c.433C>G (p.Leu145Val)
NM_000492.4(CFTR):c.54-4235_164+377dup
NM_000492.4(CFTR):c.586dup (p.Ala196fs)	rs1584786892
NM_000492.4(CFTR):c.671del (p.Phe224fs)	rs769693190
NM_000492.4(CFTR):c.709C>G (p.Gln237Glu)	rs397508784
NM_000492.4(CFTR):c.769G>T (p.Glu257Ter)
NM_000492.4(CFTR):c.870-1113_870-1110del	rs397508809

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