ClinVar Miner

List of variants in gene CFTR reported as uncertain significance by Invitae

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Gene type:
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Total variants: 114
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HGVS dbSNP
NC_000007.13:g.(?_117267556)_(117267869_?)dup
NM_000492.3(CFTR):c.1001G>A (p.Arg334Gln) rs397508137
NM_000492.3(CFTR):c.1052C>G (p.Thr351Ser) rs1800086
NM_000492.3(CFTR):c.1163C>T (p.Thr388Met) rs143860237
NM_000492.3(CFTR):c.1186A>T (p.Asn396Tyr) rs753143757
NM_000492.3(CFTR):c.1199T>C (p.Phe400Ser)
NM_000492.3(CFTR):c.1211G>T (p.Gly404Val) rs1324302547
NM_000492.3(CFTR):c.1217G>A (p.Gly406Glu)
NM_000492.3(CFTR):c.1247A>G (p.Asn416Ser) rs777850419
NM_000492.3(CFTR):c.1269T>A (p.Asn423Lys)
NM_000492.3(CFTR):c.1270G>A (p.Gly424Ser) rs371107552
NM_000492.3(CFTR):c.1331T>C (p.Ile444Thr) rs397508191
NM_000492.3(CFTR):c.1342A>G (p.Ile448Val)
NM_000492.3(CFTR):c.1343T>C (p.Ile448Thr) rs748642635
NM_000492.3(CFTR):c.1364C>T (p.Ala455Val) rs74551128
NM_000492.3(CFTR):c.137C>T (p.Ala46Val)
NM_000492.3(CFTR):c.1429C>T (p.Pro477Ser) rs139054556
NM_000492.3(CFTR):c.1430C>A (p.Pro477His) rs886044297
NM_000492.3(CFTR):c.1437G>C (p.Glu479Asp) rs754152822
NM_000492.3(CFTR):c.1450C>T (p.His484Tyr) rs397508210
NM_000492.3(CFTR):c.1454G>C (p.Ser485Thr) rs143980575
NM_000492.3(CFTR):c.1496C>T (p.Pro499Leu)
NM_000492.3(CFTR):c.14C>T (p.Pro5Leu) rs193922501
NM_000492.3(CFTR):c.1504A>G (p.Ile502Val) rs768243039
NM_000492.3(CFTR):c.1517T>C (p.Ile506Thr) rs397508224
NM_000492.3(CFTR):c.1558G>A (p.Val520Ile) rs77646904
NM_000492.3(CFTR):c.1570T>C (p.Cys524Arg)
NM_000492.3(CFTR):c.1582G>A (p.Glu528Lys) rs773018372
NM_000492.3(CFTR):c.1684G>A (p.Val562Ile) rs1800097
NM_000492.3(CFTR):c.1684G>C (p.Val562Leu) rs1800097
NM_000492.3(CFTR):c.1691A>G (p.Lys564Arg)
NM_000492.3(CFTR):c.1724T>A (p.Phe575Tyr) rs773569201
NM_000492.3(CFTR):c.1781T>C (p.Leu594Pro) rs1554389245
NM_000492.3(CFTR):c.1810A>C (p.Thr604Pro) rs1554389267
NM_000492.3(CFTR):c.1950C>A (p.Phe650Leu) rs200204024
NM_000492.3(CFTR):c.196A>G (p.Asn66Asp) rs1060503163
NM_000492.3(CFTR):c.221G>A (p.Arg74Gln) rs142540482
NM_000492.3(CFTR):c.2255T>G (p.Ile752Ser) rs766541549
NM_000492.3(CFTR):c.2354G>A (p.Arg785Gln)
NM_000492.3(CFTR):c.2420T>C (p.Ile807Thr) rs1554389471
NM_000492.3(CFTR):c.2450G>T (p.Gly817Val) rs148604667
NM_000492.3(CFTR):c.246G>A (p.Met82Ile) rs1159096947
NM_000492.3(CFTR):c.2502T>G (p.Phe834Leu) rs200735475
NM_000492.3(CFTR):c.2540A>G (p.Asn847Ser)
NM_000492.3(CFTR):c.2545T>A (p.Tyr849Asn)
NM_000492.3(CFTR):c.2552G>A (p.Arg851Gln) rs397508395
NM_000492.3(CFTR):c.2562_2563delinsGA (p.Val855Ile)
NM_000492.3(CFTR):c.256A>G (p.Ile86Val)
NM_000492.3(CFTR):c.2570A>G (p.Lys857Arg)
NM_000492.3(CFTR):c.2627C>T (p.Ala876Val) rs1472821278
NM_000492.3(CFTR):c.2629T>G (p.Ser877Ala) rs761531223
NM_000492.3(CFTR):c.2743G>C (p.Val915Leu)
NM_000492.3(CFTR):c.2770G>C (p.Asp924His)
NM_000492.3(CFTR):c.2812G>C (p.Val938Leu) rs749784731
NM_000492.3(CFTR):c.2836A>G (p.Lys946Glu)
NM_000492.3(CFTR):c.2855T>C (p.Met952Thr) rs142773283
NM_000492.3(CFTR):c.2900T>C (p.Leu967Ser) rs1800110
NM_000492.3(CFTR):c.2946T>G (p.Ile982Met)
NM_000492.3(CFTR):c.2974T>C (p.Phe992Leu)
NM_000492.3(CFTR):c.29G>A (p.Ser10Asn) rs762241850
NM_000492.3(CFTR):c.31G>A (p.Val11Ile) rs1800072
NM_000492.3(CFTR):c.332C>T (p.Pro111Leu) rs140502196
NM_000492.3(CFTR):c.3380G>A (p.Gly1127Glu) rs1434504483
NM_000492.3(CFTR):c.3452T>A (p.Ile1151Lys)
NM_000492.3(CFTR):c.3457G>A (p.Val1153Met)
NM_000492.3(CFTR):c.3473G>A (p.Arg1158Gln)
NM_000492.3(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.3(CFTR):c.355A>G (p.Ile119Val) rs193922518
NM_000492.3(CFTR):c.3592G>A (p.Val1198Met)
NM_000492.3(CFTR):c.359C>T (p.Ala120Val) rs1265244783
NM_000492.3(CFTR):c.3628A>C (p.Met1210Leu)
NM_000492.3(CFTR):c.3642T>A (p.Asp1214Glu)
NM_000492.3(CFTR):c.3650C>T (p.Ala1217Val) rs749662161
NM_000492.3(CFTR):c.365A>G (p.Tyr122Cys) rs377295859
NM_000492.3(CFTR):c.3710G>A (p.Gly1237Asp)
NM_000492.3(CFTR):c.372C>T (p.Gly124=) rs1060503162
NM_000492.3(CFTR):c.3749_3751dup (p.Lys1250dup)
NM_000492.3(CFTR):c.3807C>G (p.Ile1269Met)
NM_000492.3(CFTR):c.3842A>G (p.Gln1281Arg) rs752127256
NM_000492.3(CFTR):c.3895A>G (p.Thr1299Ala)
NM_000492.3(CFTR):c.3983T>C (p.Ile1328Thr) rs115762793
NM_000492.3(CFTR):c.4018G>C (p.Val1340Leu) rs1554397492
NM_000492.3(CFTR):c.401G>A (p.Arg134Lys)
NM_000492.3(CFTR):c.4027G>A (p.Gly1343Ser) rs747324955
NM_000492.3(CFTR):c.4087A>C (p.Lys1363Gln) rs1060503166
NM_000492.3(CFTR):c.4097T>C (p.Ile1366Thr) rs200955612
NM_000492.3(CFTR):c.410T>C (p.Leu137Pro)
NM_000492.3(CFTR):c.4123C>A (p.His1375Asn) rs146947665
NM_000492.3(CFTR):c.4142A>G (p.Tyr1381Cys) rs776388660
NM_000492.3(CFTR):c.4186A>C (p.Thr1396Pro)
NM_000492.3(CFTR):c.41A>T (p.Lys14Ile) rs772774651
NM_000492.3(CFTR):c.4230C>G (p.Cys1410Trp) rs1165501753
NM_000492.3(CFTR):c.4232A>C (p.Gln1411Pro) rs150177304
NM_000492.3(CFTR):c.4242+6T>C rs1562929200
NM_000492.3(CFTR):c.424A>G (p.Ile142Val) rs1562889369
NM_000492.3(CFTR):c.4436G>A (p.Arg1479Lys) rs1325117166
NM_000492.3(CFTR):c.451C>A (p.Gln151Lys) rs397508720
NM_000492.3(CFTR):c.473G>A (p.Ser158Asn) rs397508725
NM_000492.3(CFTR):c.490A>G (p.Thr164Ala) rs200885306
NM_000492.3(CFTR):c.508C>T (p.Arg170Cys) rs578029902
NM_000492.3(CFTR):c.509G>A (p.Arg170His) rs1800079
NM_000492.3(CFTR):c.613C>A (p.Pro205Thr)
NM_000492.3(CFTR):c.634A>G (p.Met212Val)
NM_000492.3(CFTR):c.638G>A (p.Gly213Glu) rs775701644
NM_000492.3(CFTR):c.766A>G (p.Ser256Gly)
NM_000492.3(CFTR):c.76A>G (p.Lys26Glu)
NM_000492.3(CFTR):c.772A>G (p.Arg258Gly) rs191456345
NM_000492.3(CFTR):c.846A>T (p.Glu282Asp) rs142864834
NM_000492.3(CFTR):c.902A>G (p.Tyr301Cys) rs150691494
NM_000492.3(CFTR):c.925G>A (p.Ala309Thr) rs148013312
NM_000492.3(CFTR):c.932T>G (p.Phe311Cys)
NM_000492.3(CFTR):c.940G>T (p.Gly314Trp) rs397508819
NM_000492.3(CFTR):c.944T>C (p.Phe315Ser) rs760319837
NM_000492.3(CFTR):c.958T>G (p.Leu320Val) rs144476686

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