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

Submission 1 (likely pathogenic) minimum review status:		Submission 1 (likely pathogenic) method:
Submission 2 (uncertain significance) minimum review status:		Submission 2 (uncertain significance) 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: 114

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HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg)	rs34911792	0.00573
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.2900T>C (p.Leu967Ser)	rs1800110	0.00106
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.2506G>T (p.Asp836Tyr)	rs201386642	0.00040
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.2770G>A (p.Asp924Asn)	rs201759207	0.00029
NM_000492.4(CFTR):c.2855T>C (p.Met952Thr)	rs142773283	0.00019
NM_000492.4(CFTR):c.489+3A>G	rs377729736	0.00016
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln)	rs397508137	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.1054C>T (p.Arg352Trp)	rs193922497	0.00007
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile)	rs151048781	0.00006
NM_000492.4(CFTR):c.571T>G (p.Phe191Val)	rs141482808	0.00006
NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe)	rs1800089	0.00005
NM_000492.4(CFTR):c.3409A>G (p.Met1137Val)	rs397508553	0.00005
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.794T>G (p.Met265Arg)	rs148519623	0.00004
NM_000492.4(CFTR):c.926C>G (p.Ala309Gly)	rs397508818	0.00004
NM_000492.4(CFTR):c.1125A>C (p.Leu375Phe)	rs73215912	0.00003
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu)	rs193922501	0.00003
NM_000492.4(CFTR):c.2939T>A (p.Ile980Lys)	rs397508463	0.00003
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=)	rs139729994	0.00003
NM_000492.4(CFTR):c.1570T>C (p.Cys524Arg)	rs368516826	0.00002
NM_000492.4(CFTR):c.1766G>A (p.Ser589Asn)	rs397508300	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.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.2210C>T (p.Ser737Phe)	rs186089140	0.00001
NM_000492.4(CFTR):c.2417A>G (p.Asp806Gly)	rs397508375	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.2797A>G (p.Arg933Gly)	rs397508436	0.00001
NM_000492.4(CFTR):c.2846A>T (p.His949Leu)	rs397508444	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.376G>A (p.Gly126Ser)	rs397508606	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.4193T>G (p.Ile1398Ser)	rs397508692	0.00001
NM_000492.4(CFTR):c.4225G>A (p.Glu1409Lys)	rs397508699	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.859A>T (p.Asn287Tyr)	rs397508804	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_000492.3(CFTR):c.1210-12T[5]	rs1805177
NM_000492.4(CFTR):c.1045G>C (p.Ala349Pro)	rs1562892293
NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser)	rs1800086
NM_000492.4(CFTR):c.1052C>T (p.Thr351Ile)	rs1800086
NM_000492.4(CFTR):c.1175T>G (p.Val392Gly)	rs397508170
NM_000492.4(CFTR):c.1331T>C (p.Ile444Thr)	rs397508191
NM_000492.4(CFTR):c.1364C>T (p.Ala455Val)	rs74551128
NM_000492.4(CFTR):c.1369G>C (p.Ala457Pro)	rs1554382664
NM_000492.4(CFTR):c.1397C>T (p.Ser466Leu)	rs121908805
NM_000492.4(CFTR):c.1438G>A (p.Gly480Ser)	rs79282516
NM_000492.4(CFTR):c.1478A>T (p.Gln493Leu)
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.1571G>A (p.Cys524Tyr)	rs1554384440
NM_000492.4(CFTR):c.164+2dup	rs1554375870
NM_000492.4(CFTR):c.1712T>C (p.Leu571Ser)	rs397508280
NM_000492.4(CFTR):c.1763A>T (p.Glu588Val)	rs397508297
NM_000492.4(CFTR):c.1811C>T (p.Thr604Ile)	rs397508308
NM_000492.4(CFTR):c.1826A>T (p.His609Leu)	rs397508310
NM_000492.4(CFTR):c.1860T>G (p.His620Gln)	rs397508315
NM_000492.4(CFTR):c.1883G>C (p.Gly628Ala)	rs1554389290
NM_000492.4(CFTR):c.2252G>T (p.Arg751Leu)	rs397508357
NM_000492.4(CFTR):c.253G>C (p.Gly85Arg)
NM_000492.4(CFTR):c.2552G>T (p.Arg851Leu)	rs397508395
NM_000492.4(CFTR):c.276A>T (p.Glu92Asp)	rs397508432
NM_000492.4(CFTR):c.2907A>C (p.Ala969=)	rs377502207
NM_000492.4(CFTR):c.2909-15T>G	rs397508455
NM_000492.4(CFTR):c.2929T>C (p.Ser977Pro)	rs137975784
NM_000492.4(CFTR):c.2936A>C (p.Asp979Ala)	rs397508462
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.325T>A (p.Tyr109Asn)	rs397508522
NM_000492.4(CFTR):c.328G>T (p.Asp110Tyr)	rs113993958
NM_000492.4(CFTR):c.331C>G (p.Pro111Ala)	rs397508541
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>A (p.Arg117His)	rs78655421
NM_000492.4(CFTR):c.350G>T (p.Arg117Leu)	rs78655421
NM_000492.4(CFTR):c.3717+5G>A	rs193922520
NM_000492.4(CFTR):c.3719T>G (p.Val1240Gly)	rs397508598
NM_000492.4(CFTR):c.3846G>C (p.Trp1282Cys)	rs77010898
NM_000492.4(CFTR):c.3896C>T (p.Thr1299Ile)	rs397508634
NM_000492.4(CFTR):c.4004T>C (p.Leu1335Pro)	rs397508658
NM_000492.4(CFTR):c.4056G>C (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.484A>G (p.Lys162Glu)	rs397508731
NM_000492.4(CFTR):c.488A>T (p.Lys163Met)	rs1562889435
NM_000492.4(CFTR):c.523A>G (p.Ile175Val)	rs397508744
NM_000492.4(CFTR):c.533G>A (p.Gly178Glu)	rs397508748
NM_000492.4(CFTR):c.558C>G (p.Asn186Lys)	rs397508753
NM_000492.4(CFTR):c.567C>A (p.Asn189Lys)	rs397508755
NM_000492.4(CFTR):c.614C>G (p.Pro205Arg)	rs397508769
NM_000492.4(CFTR):c.742A>G (p.Arg248Gly)	rs1554380515
NM_000492.4(CFTR):c.743G>C (p.Arg248Thr)	rs397508792

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