Variants in gene CFTR with conflicting interpretations "uncertain significance" and "pathogenic"

Submission 1 (uncertain significance) minimum review status:		Submission 1 (uncertain significance) method:
Submission 2 (pathogenic) minimum review status:		Submission 2 (pathogenic) method:
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 111

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HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.1210-11T>G	rs73715573	0.00886
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys)	rs1800100	0.00625
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala)	rs1800098	0.00519
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp)	rs115545701	0.00350
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn)	rs11971167	0.00338
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly)	rs121909046	0.00335
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser)	rs1800110	0.00106
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys)	rs74571530	0.00090
NM_000492.4(CFTR):c.1210-11_1210-10insG	rs551227135	0.00072
NM_000492.4(CFTR):c.601G>A (p.Val201Met)	rs138338446	0.00046
NM_000492.4(CFTR):c.509G>A (p.Arg170His)	rs1800079	0.00045
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)	rs140455771	0.00041
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.2421A>G (p.Ile807Met)	rs1800103	0.00034
NM_000492.4(CFTR):c.2855T>C (p.Met952Thr)	rs142773283	0.00019
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys)	rs80034486	0.00016
NM_000492.4(CFTR):c.489+3A>G	rs377729736	0.00016
NM_000492.4(CFTR):c.1046C>T (p.Ala349Val)	rs121909021	0.00015
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln)	rs397508137	0.00011
NM_000492.4(CFTR):c.3415A>G (p.Ile1139Val)	rs397508556	0.00011
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly)	rs191456345	0.00011
NM_000492.4(CFTR):c.2657+2_2657+3insA	rs397508414	0.00009
NM_000492.4(CFTR):c.332C>T (p.Pro111Leu)	rs140502196	0.00009
NM_000492.4(CFTR):c.2173G>A (p.Glu725Lys)	rs199791061	0.00008
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile)	rs151048781	0.00006
NM_000492.4(CFTR):c.3659C>T (p.Thr1220Ile)	rs1800123	0.00006
NM_000492.4(CFTR):c.571T>G (p.Phe191Val)	rs141482808	0.00006
NM_000492.4(CFTR):c.1745C>T (p.Thr582Ile)	rs397508293	0.00004
NM_000492.4(CFTR):c.358G>A (p.Ala120Thr)	rs201958172	0.00004
NM_000492.4(CFTR):c.3874-4522A>G	rs895394181	0.00004
NM_000492.4(CFTR):c.926C>G (p.Ala309Gly)	rs397508818	0.00004
NM_000492.4(CFTR):c.1117G>A (p.Asp373Asn)	rs556880586	0.00003
NM_000492.4(CFTR):c.1125A>C (p.Leu375Phe)	rs73215912	0.00003
NM_000492.4(CFTR):c.2758G>A (p.Val920Met)	rs373885282	0.00003
NM_000492.4(CFTR):c.2813T>G (p.Val938Gly)	rs193922511	0.00003
NM_000492.4(CFTR):c.2939T>A (p.Ile980Lys)	rs397508463	0.00003
NM_000492.4(CFTR):c.3458T>A (p.Val1153Glu)	rs397508567	0.00003
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=)	rs139729994	0.00003
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.1081T>C (p.Trp361Arg)	rs397508154	0.00001
NM_000492.4(CFTR):c.1315C>T (p.Pro439Ser)	rs397508187	0.00001
NM_000492.4(CFTR):c.1394C>A (p.Thr465Asn)	rs758900656	0.00001
NM_000492.4(CFTR):c.1499G>A (p.Gly500Asp)	rs774945680	0.00001
NM_000492.4(CFTR):c.1505T>C (p.Ile502Thr)	rs397508222	0.00001
NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr)	rs397508224	0.00001
NM_000492.4(CFTR):c.1585-9412A>G	rs397508229	0.00001
NM_000492.4(CFTR):c.1724T>A (p.Phe575Tyr)	rs773569201	0.00001
NM_000492.4(CFTR):c.1837G>A (p.Ala613Thr)	rs201978662	0.00001
NM_000492.4(CFTR):c.2210C>T (p.Ser737Phe)	rs186089140	0.00001
NM_000492.4(CFTR):c.2490+2T>C	rs1057516216	0.00001
NM_000492.4(CFTR):c.2679G>T (p.Gly893=)	rs397508419	0.00001
NM_000492.4(CFTR):c.2723C>A (p.Thr908Asn)	rs369521395	0.00001
NM_000492.4(CFTR):c.273+4A>G	rs387906374	0.00001
NM_000492.4(CFTR):c.2797A>G (p.Arg933Gly)	rs397508436	0.00001
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile)	rs397508600	0.00001
NM_000492.4(CFTR):c.3746G>A (p.Gly1249Glu)	rs121909040	0.00001
NM_000492.4(CFTR):c.3873G>C (p.Gln1291His)	rs121909015	0.00001
NM_000492.4(CFTR):c.410T>C (p.Leu137Pro)	rs397508674	0.00001
NM_000492.4(CFTR):c.476T>C (p.Leu159Ser)	rs397508727	0.00001
NM_000492.4(CFTR):c.581G>T (p.Gly194Val)	rs397508763	0.00001
NM_000492.4(CFTR):c.869+5G>A	rs533959068	0.00001
NM_000492.4(CFTR):c.941G>A (p.Gly314Glu)	rs75763344	0.00001
NM_000492.4(CFTR):c.94C>A (p.Leu32Met)	rs776797377	0.00001
NM_000492.3(CFTR):c.1210-12T[5]	rs1805177
NM_000492.4(CFTR):c.1117-5A>G	rs397508161
NM_000492.4(CFTR):c.1175T>G (p.Val392Gly)	rs397508170
NM_000492.4(CFTR):c.1210-13_1210-8del	rs1399483116
NM_000492.4(CFTR):c.1322T>C (p.Leu441Pro)	rs397508188
NM_000492.4(CFTR):c.1369G>C (p.Ala457Pro)	rs1554382664
NM_000492.4(CFTR):c.1501A>G (p.Thr501Ala)	rs397508221
NM_000492.4(CFTR):c.1516A>C (p.Ile506Leu)	rs1800091
NM_000492.4(CFTR):c.1518C>G (p.Ile506Met)	rs1800092
NM_000492.4(CFTR):c.1538A>G (p.Asp513Gly)	rs397508225
NM_000492.4(CFTR):c.164+2dup	rs1554375870
NM_000492.4(CFTR):c.1712T>C (p.Leu571Ser)	rs397508280
NM_000492.4(CFTR):c.1781T>C (p.Leu594Pro)	rs1554389245
NM_000492.4(CFTR):c.1811C>T (p.Thr604Ile)	rs397508308
NM_000492.4(CFTR):c.1860T>G (p.His620Gln)	rs397508315
NM_000492.4(CFTR):c.2552G>T (p.Arg851Leu)	rs397508395
NM_000492.4(CFTR):c.2706C>G (p.Ser902Arg)	rs397508422
NM_000492.4(CFTR):c.2758G>T (p.Val920Leu)	rs373885282
NM_000492.4(CFTR):c.2908G>A (p.Gly970Ser)	rs397508453
NM_000492.4(CFTR):c.2909-15T>G	rs397508455
NM_000492.4(CFTR):c.2936A>C (p.Asp979Ala)	rs397508462
NM_000492.4(CFTR):c.2977G>T (p.Asp993Tyr)	rs397508468
NM_000492.4(CFTR):c.305T>G (p.Leu102Arg)	rs397508490
NM_000492.4(CFTR):c.323C>T (p.Ser108Phe)	rs397508520
NM_000492.4(CFTR):c.328G>T (p.Asp110Tyr)	rs113993958
NM_000492.4(CFTR):c.3461A>G (p.Asp1154Gly)	rs397508569
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu)	rs1800120
NM_000492.4(CFTR):c.349C>G (p.Arg117Gly)	rs77834169
NM_000492.4(CFTR):c.350G>T (p.Arg117Leu)	rs78655421
NM_000492.4(CFTR):c.3717+5G>A	rs193922520
NM_000492.4(CFTR):c.3872A>G (p.Gln1291Arg)	rs397508621
NM_000492.4(CFTR):c.38C>T (p.Ser13Phe)	rs397508635
NM_000492.4(CFTR):c.3964-3C>G	rs397508652
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His)	rs113857788
NM_000492.4(CFTR):c.4056G>T (p.Gln1352His)	rs113857788
NM_000492.4(CFTR):c.4097T>A (p.Ile1366Asn)	rs200955612
NM_000492.4(CFTR):c.4097T>C (p.Ile1366Thr)	rs200955612
NM_000492.4(CFTR):c.4129G>C (p.Asp1377His)	rs150683293
NM_000492.4(CFTR):c.4136+5G>A	rs1584849005
NM_000492.4(CFTR):c.443T>A (p.Ile148Asn)	rs35516286
NM_000492.4(CFTR):c.473G>A (p.Ser158Asn)	rs397508725
NM_000492.4(CFTR):c.523A>G (p.Ile175Val)	rs397508744
NM_000492.4(CFTR):c.580G>A (p.Gly194Arg)	rs376008630
NM_000492.4(CFTR):c.598T>A (p.Phe200Ile)	rs397508766
NM_000492.4(CFTR):c.742A>G (p.Arg248Gly)	rs1554380515
Single allele

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