ClinVar Miner

List of variants in gene RFT1 reported as uncertain significance for RFT1-congenital disorder of glycosylation

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 255
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HGVS dbSNP gnomAD frequency
NM_052859.4(RFT1):c.*2165T>C rs141744872 0.00407
NM_052859.4(RFT1):c.*2706C>T rs186393432 0.00407
NM_052859.4(RFT1):c.*2820G>A rs143710210 0.00369
NM_052859.4(RFT1):c.*645C>T rs115646874 0.00126
NM_052859.4(RFT1):c.303C>G (p.Gly101=) rs148576979 0.00108
NM_052859.4(RFT1):c.826+7T>C rs192264403 0.00103
NM_052859.4(RFT1):c.*2366T>A rs575340631 0.00063
NM_052859.4(RFT1):c.520T>C (p.Leu174=) rs149266076 0.00048
NM_052859.4(RFT1):c.1133A>G (p.Tyr378Cys) rs143232904 0.00046
NM_052859.4(RFT1):c.1331C>T (p.Thr444Met) rs147740901 0.00039
NM_052859.4(RFT1):c.436C>T (p.His146Tyr) rs201794647 0.00036
NM_052859.4(RFT1):c.*3068A>C rs571109920 0.00034
NM_052859.4(RFT1):c.1356C>T (p.Arg452=) rs113829901 0.00034
NM_052859.4(RFT1):c.*2457A>G rs560974236 0.00028
NM_052859.4(RFT1):c.*2790G>A rs866438979 0.00026
NM_052859.4(RFT1):c.*127G>A rs570767824 0.00023
NM_052859.4(RFT1):c.*2789C>T rs371144725 0.00021
NM_052859.4(RFT1):c.831G>A (p.Val277=) rs150391936 0.00021
NM_052859.4(RFT1):c.*3093C>G rs886058710 0.00019
NM_052859.4(RFT1):c.*880C>G rs557106378 0.00019
NM_052859.4(RFT1):c.1283G>A (p.Ser428Asn) rs201230044 0.00019
NM_052859.4(RFT1):c.1529G>A (p.Gly510Glu) rs142016662 0.00018
NM_052859.4(RFT1):c.*1124T>A rs554646046 0.00016
NM_052859.4(RFT1):c.*3286C>T rs766245126 0.00015
NM_052859.4(RFT1):c.1101C>T (p.Ser367=) rs139445704 0.00015
NM_052859.4(RFT1):c.1049A>G (p.Tyr350Cys) rs148627975 0.00014
NM_052859.4(RFT1):c.136G>A (p.Val46Ile) rs141174358 0.00014
NM_052859.4(RFT1):c.*242T>C rs565490076 0.00013
NM_052859.4(RFT1):c.104T>C (p.Ile35Thr) rs146354877 0.00013
NM_052859.4(RFT1):c.978T>C (p.Ala326=) rs372101755 0.00011
NM_052859.4(RFT1):c.*1901G>A rs752158709 0.00010
NM_052859.4(RFT1):c.110G>A (p.Arg37His) rs139153173 0.00010
NM_052859.4(RFT1):c.827-14T>C rs571722733 0.00010
NM_052859.4(RFT1):c.884C>T (p.Pro295Leu) rs770676975 0.00010
NM_052859.4(RFT1):c.*2161C>T rs180693200 0.00009
NM_052859.4(RFT1):c.*2453T>C rs755371328 0.00009
NM_052859.4(RFT1):c.*649G>A rs915542340 0.00009
NM_052859.4(RFT1):c.267-3T>C rs778876601 0.00009
NM_052859.4(RFT1):c.1388C>T (p.Ala463Val) rs763302334 0.00008
NM_052859.4(RFT1):c.533G>A (p.Gly178Glu) rs373067263 0.00008
NM_052859.4(RFT1):c.*2991C>T rs891624907 0.00007
NM_052859.4(RFT1):c.964G>A (p.Val322Ile) rs143888206 0.00007
NM_052859.4(RFT1):c.*2052A>G rs762188099 0.00006
NM_052859.4(RFT1):c.1117C>T (p.Arg373Cys) rs375524916 0.00006
NM_052859.4(RFT1):c.1270C>T (p.Arg424Cys) rs138803905 0.00006
NM_052859.4(RFT1):c.1447G>T (p.Ala483Ser) rs549199208 0.00006
NM_052859.4(RFT1):c.*2280T>A rs190988002 0.00005
NM_052859.4(RFT1):c.1590G>C (p.Gln530His) rs1701001105 0.00005
NM_052859.4(RFT1):c.280G>A (p.Val94Met) rs151030461 0.00005
NM_052859.4(RFT1):c.*2995C>T rs886058713 0.00004
NM_052859.4(RFT1):c.1018G>A (p.Gly340Ser) rs568474177 0.00004
NM_052859.4(RFT1):c.1208+15A>G rs1448297165 0.00004
NM_052859.4(RFT1):c.1214A>G (p.Asn405Ser) rs111924005 0.00004
NM_052859.4(RFT1):c.1344C>T (p.Cys448=) rs369135875 0.00004
NM_052859.4(RFT1):c.1598T>C (p.Val533Ala) rs747610673 0.00004
NM_052859.4(RFT1):c.412C>A (p.Pro138Thr) rs1045604063 0.00004
NM_052859.4(RFT1):c.821A>G (p.Asp274Gly) rs781066087 0.00004
NM_052859.4(RFT1):c.*2214C>T rs886058719 0.00003
NM_052859.4(RFT1):c.*2215G>A rs886058718 0.00003
NM_052859.4(RFT1):c.*2996G>A rs1223140817 0.00003
NM_052859.4(RFT1):c.*84A>T rs553703050 0.00003
NM_052859.4(RFT1):c.1075G>A (p.Gly359Arg) rs201876415 0.00003
NM_052859.4(RFT1):c.121A>G (p.Lys41Glu) rs886058728 0.00003
NM_052859.4(RFT1):c.1285G>A (p.Val429Met) rs145175244 0.00003
NM_052859.4(RFT1):c.1324C>T (p.Arg442Trp) rs146610276 0.00003
NM_052859.4(RFT1):c.590A>G (p.Tyr197Cys) rs781527440 0.00003
NM_052859.4(RFT1):c.778G>A (p.Glu260Lys) rs766766673 0.00003
NM_052859.4(RFT1):c.781C>G (p.Arg261Gly) rs766042717 0.00003
NM_052859.4(RFT1):c.*972A>G rs1442056912 0.00002
NM_052859.4(RFT1):c.1102+5G>A rs947230997 0.00002
NM_052859.4(RFT1):c.1187T>C (p.Met396Thr) rs759448727 0.00002
NM_052859.4(RFT1):c.1286T>C (p.Val429Ala) rs748400773 0.00002
NM_052859.4(RFT1):c.1354C>T (p.Arg452Cys) rs754157422 0.00002
NM_052859.4(RFT1):c.1607G>A (p.Arg536His) rs781398694 0.00002
NM_052859.4(RFT1):c.182T>C (p.Leu61Pro) rs758269687 0.00002
NM_052859.4(RFT1):c.200G>A (p.Arg67His) rs753527390 0.00002
NM_052859.4(RFT1):c.511G>A (p.Val171Met) rs561602179 0.00002
NM_052859.4(RFT1):c.801G>T (p.Leu267Phe) rs745687063 0.00002
NM_052859.4(RFT1):c.*1900C>T rs202235284 0.00001
NM_052859.4(RFT1):c.*3348A>G rs1383425042 0.00001
NM_052859.4(RFT1):c.*968A>G rs1159558402 0.00001
NM_052859.4(RFT1):c.1100C>A (p.Ser367Tyr) rs991499046 0.00001
NM_052859.4(RFT1):c.1102G>A (p.Gly368Ser) rs483352764 0.00001
NM_052859.4(RFT1):c.1169G>A (p.Cys390Tyr) rs758102329 0.00001
NM_052859.4(RFT1):c.1183G>A (p.Ala395Thr) rs765115802 0.00001
NM_052859.4(RFT1):c.1204G>A (p.Asp402Asn) rs760448271 0.00001
NM_052859.4(RFT1):c.1315A>G (p.Met439Val) rs754783004 0.00001
NM_052859.4(RFT1):c.1355G>A (p.Arg452His) rs372822382 0.00001
NM_052859.4(RFT1):c.1358A>G (p.Tyr453Cys) rs761109723 0.00001
NM_052859.4(RFT1):c.1376A>G (p.His459Arg) rs144531852 0.00001
NM_052859.4(RFT1):c.1391G>A (p.Gly464Asp) rs1191825046 0.00001
NM_052859.4(RFT1):c.1417G>A (p.Gly473Arg) rs754212502 0.00001
NM_052859.4(RFT1):c.1454C>T (p.Ser485Leu) rs377516481 0.00001
NM_052859.4(RFT1):c.149+5G>A rs775590840 0.00001
NM_052859.4(RFT1):c.1540G>A (p.Gly514Arg) rs927269749 0.00001
NM_052859.4(RFT1):c.155C>T (p.Thr52Met) rs764531159 0.00001
NM_052859.4(RFT1):c.201C>T (p.Arg67=) rs954135080 0.00001
NM_052859.4(RFT1):c.271C>T (p.Pro91Ser) rs147915986 0.00001
NM_052859.4(RFT1):c.326A>C (p.Glu109Ala) rs1384861869 0.00001
NM_052859.4(RFT1):c.386C>T (p.Ser129Leu) rs754395993 0.00001
NM_052859.4(RFT1):c.541A>G (p.Ile181Val) rs771804132 0.00001
NM_052859.4(RFT1):c.558+6A>T rs886058726 0.00001
NM_052859.4(RFT1):c.64G>A (p.Val22Met) rs374252619 0.00001
NM_052859.4(RFT1):c.665C>T (p.Thr222Ile) rs1323618296 0.00001
NM_052859.4(RFT1):c.698C>T (p.Ala233Val) rs751030368 0.00001
NM_052859.4(RFT1):c.728C>T (p.Thr243Ile) rs762597470 0.00001
NM_052859.4(RFT1):c.839T>C (p.Ile280Thr) rs757620281 0.00001
NM_052859.4(RFT1):c.968C>G (p.Ala323Gly) rs770086765 0.00001
NC_000003.11:g.(?_53125919)_(53164416_?)dup
NC_000003.11:g.(?_53133377)_(53133522_?)del
NC_000003.11:g.(?_53145826)_(53157876_?)dup
NC_000003.11:g.(?_53155766)_(53156657_?)del
NM_052859.4(RFT1):c.*1117G>C rs1700966613
NM_052859.4(RFT1):c.*116C>G rs1474404507
NM_052859.4(RFT1):c.*1271A>C rs549553484
NM_052859.4(RFT1):c.*153C>T rs886058723
NM_052859.4(RFT1):c.*1693G>A rs146195364
NM_052859.4(RFT1):c.*1693G>T rs146195364
NM_052859.4(RFT1):c.*182G>C rs550906487
NM_052859.4(RFT1):c.*184G>C rs548020075
NM_052859.4(RFT1):c.*2076C>T rs138775144
NM_052859.4(RFT1):c.*2187A>G rs1249353870
NM_052859.4(RFT1):c.*2255A>C rs886058717
NM_052859.4(RFT1):c.*2350C>T rs886058716
NM_052859.4(RFT1):c.*2427G>A rs886058715
NM_052859.4(RFT1):c.*2428G>A rs1036043688
NM_052859.4(RFT1):c.*2787G>C rs886058714
NM_052859.4(RFT1):c.*295C>T rs1050584536
NM_052859.4(RFT1):c.*2992G>A rs1390396374
NM_052859.4(RFT1):c.*2997C>G rs886058712
NM_052859.4(RFT1):c.*3093C>T rs886058710
NM_052859.4(RFT1):c.*3191A>G rs886058709
NM_052859.4(RFT1):c.*405G>T rs886058722
NM_052859.4(RFT1):c.*423G>A rs1476531096
NM_052859.4(RFT1):c.*441C>A rs1700985095
NM_052859.4(RFT1):c.*609C>T rs886058721
NM_052859.4(RFT1):c.*861A>G rs886058720
NM_052859.4(RFT1):c.1052C>G (p.Ser351Cys)
NM_052859.4(RFT1):c.1063C>G (p.Leu355Val)
NM_052859.4(RFT1):c.1071C>G (p.Ile357Met)
NM_052859.4(RFT1):c.1080G>T (p.Gly360=) rs1189812930
NM_052859.4(RFT1):c.1085T>C (p.Met362Thr) rs1701389862
NM_052859.4(RFT1):c.109C>T (p.Arg37Cys) rs764833139
NM_052859.4(RFT1):c.1102+1G>T rs1559586345
NM_052859.4(RFT1):c.1102+4C>A rs150695725
NM_052859.4(RFT1):c.1102+4C>T rs150695725
NM_052859.4(RFT1):c.1124A>G (p.Tyr375Cys) rs1701249101
NM_052859.4(RFT1):c.1135G>A (p.Val379Ile) rs1364345554
NM_052859.4(RFT1):c.1138C>G (p.Leu380Val) rs575508213
NM_052859.4(RFT1):c.1154A>G (p.Asn385Ser)
NM_052859.4(RFT1):c.1156G>C (p.Gly386Arg) rs2107095147
NM_052859.4(RFT1):c.1162A>T (p.Thr388Ser) rs1701247296
NM_052859.4(RFT1):c.1163C>T (p.Thr388Ile)
NM_052859.4(RFT1):c.1175C>T (p.Thr392Ile)
NM_052859.4(RFT1):c.1186A>G (p.Met396Val) rs1701245763
NM_052859.4(RFT1):c.1198del (p.Glu400fs) rs748350251
NM_052859.4(RFT1):c.1208+3G>A
NM_052859.4(RFT1):c.1226T>C (p.Leu409Pro)
NM_052859.4(RFT1):c.1231del (p.Leu411fs) rs771934344
NM_052859.4(RFT1):c.1236CTC[1] (p.Ser414del)
NM_052859.4(RFT1):c.1261C>G (p.Leu421Val)
NM_052859.4(RFT1):c.1271G>A (p.Arg424His)
NM_052859.4(RFT1):c.1289G>A (p.Gly430Asp)
NM_052859.4(RFT1):c.1294A>G (p.Ile432Val)
NM_052859.4(RFT1):c.1316T>C (p.Met439Thr) rs749046487
NM_052859.4(RFT1):c.131T>C (p.Val44Ala) rs2107173212
NM_052859.4(RFT1):c.1348A>G (p.Ile450Val)
NM_052859.4(RFT1):c.1375C>T (p.His459Tyr)
NM_052859.4(RFT1):c.1381C>A (p.Pro461Thr)
NM_052859.4(RFT1):c.1387G>T (p.Ala463Ser)
NM_052859.4(RFT1):c.1399dup (p.Leu467fs) rs2107071266
NM_052859.4(RFT1):c.1413_1414delinsTT (p.Leu472Phe)
NM_052859.4(RFT1):c.1424T>G (p.Phe475Cys)
NM_052859.4(RFT1):c.1433G>C (p.Ser478Thr)
NM_052859.4(RFT1):c.1446dup (p.Ala483fs)
NM_052859.4(RFT1):c.1455G>A (p.Ser485=) rs767866491
NM_052859.4(RFT1):c.1458+5G>A
NM_052859.4(RFT1):c.1459-2A>G
NM_052859.4(RFT1):c.145G>A (p.Val49Ile)
NM_052859.4(RFT1):c.1480G>A (p.Gly494Ser) rs756497073
NM_052859.4(RFT1):c.148A>T (p.Arg50Ter) rs2107173109
NM_052859.4(RFT1):c.150-1G>C
NM_052859.4(RFT1):c.1510G>C (p.Val504Leu)
NM_052859.4(RFT1):c.1516G>A (p.Ala506Thr) rs1701003868
NM_052859.4(RFT1):c.1521C>G (p.Phe507Leu)
NM_052859.4(RFT1):c.1546G>T (p.Ala516Ser) rs1306859696
NM_052859.4(RFT1):c.154A>C (p.Thr52Pro) rs1702035840
NM_052859.4(RFT1):c.1555A>G (p.Thr519Ala)
NM_052859.4(RFT1):c.155C>A (p.Thr52Lys) rs764531159
NM_052859.4(RFT1):c.1560G>C (p.Glu520Asp) rs369800703
NM_052859.4(RFT1):c.1570A>T (p.Ile524Phe)
NM_052859.4(RFT1):c.1595G>T (p.Gly532Val) rs1701001018
NM_052859.4(RFT1):c.1597G>T (p.Val533Leu)
NM_052859.4(RFT1):c.173C>A (p.Thr58Asn)
NM_052859.4(RFT1):c.173C>T (p.Thr58Ile)
NM_052859.4(RFT1):c.224C>T (p.Thr75Ile) rs1702032211
NM_052859.4(RFT1):c.230G>A (p.Arg77Gln)
NM_052859.4(RFT1):c.240C>G (p.Ser80Arg) rs2107168045
NM_052859.4(RFT1):c.266+1G>A rs371764423
NM_052859.4(RFT1):c.272C>T (p.Pro91Leu)
NM_052859.4(RFT1):c.275del (p.Leu92fs)
NM_052859.4(RFT1):c.292T>A (p.Leu98Ile)
NM_052859.4(RFT1):c.335A>C (p.Asp112Ala)
NM_052859.4(RFT1):c.342TGT[1] (p.Val116del) rs779809846
NM_052859.4(RFT1):c.343G>A (p.Val115Ile)
NM_052859.4(RFT1):c.368T>C (p.Val123Ala)
NM_052859.4(RFT1):c.374T>C (p.Leu125Pro)
NM_052859.4(RFT1):c.377T>C (p.Phe126Ser) rs1701996247
NM_052859.4(RFT1):c.421G>T (p.Val141Phe) rs2107164186
NM_052859.4(RFT1):c.451_456dup (p.Leu151_Lys152dup) rs750344787
NM_052859.4(RFT1):c.456+3C>G rs1296088581
NM_052859.4(RFT1):c.456G>C (p.Lys152Asn)
NM_052859.4(RFT1):c.463G>A (p.Ala155Thr)
NM_052859.4(RFT1):c.465A>C (p.Ala155=) rs886058727
NM_052859.4(RFT1):c.477G>C (p.Ser159=) rs750521781
NM_052859.4(RFT1):c.490A>G (p.Ser164Gly) rs2107162275
NM_052859.4(RFT1):c.511G>C (p.Val171Leu)
NM_052859.4(RFT1):c.519G>A (p.Trp173Ter) rs759320646
NM_052859.4(RFT1):c.519G>C (p.Trp173Cys)
NM_052859.4(RFT1):c.558G>T (p.Gln186His)
NM_052859.4(RFT1):c.559-13dup rs1277722803
NM_052859.4(RFT1):c.566A>G (p.Tyr189Cys)
NM_052859.4(RFT1):c.614T>G (p.Leu205Arg) rs1357940149
NM_052859.4(RFT1):c.620C>G (p.Ser207Cys)
NM_052859.4(RFT1):c.623C>T (p.Pro208Leu) rs2107157423
NM_052859.4(RFT1):c.631A>G (p.Thr211Ala)
NM_052859.4(RFT1):c.634A>G (p.Lys212Glu)
NM_052859.4(RFT1):c.64-3T>C
NM_052859.4(RFT1):c.646C>T (p.Leu216Phe)
NM_052859.4(RFT1):c.649C>T (p.Pro217Ser) rs2107157216
NM_052859.4(RFT1):c.658A>G (p.Arg220Gly)
NM_052859.4(RFT1):c.662del (p.Ile221fs) rs2107157163
NM_052859.4(RFT1):c.673T>A (p.Leu225Ile)
NM_052859.4(RFT1):c.696+11C>T rs886058725
NM_052859.4(RFT1):c.696+5_696+8del rs759775801
NM_052859.4(RFT1):c.710G>A (p.Trp237Ter) rs1408405816
NM_052859.4(RFT1):c.730T>A (p.Trp244Arg)
NM_052859.4(RFT1):c.743_746del (p.Lys248fs) rs773274468
NM_052859.4(RFT1):c.749C>T (p.Ser250Phe) rs1575494329
NM_052859.4(RFT1):c.74G>A (p.Arg25Gln)
NM_052859.4(RFT1):c.74G>T (p.Arg25Leu) rs780107020
NM_052859.4(RFT1):c.760C>T (p.Gln254Ter) rs185019792
NM_052859.4(RFT1):c.775+3A>G
NM_052859.4(RFT1):c.827-6T>G rs753486430
NM_052859.4(RFT1):c.840A>G (p.Ile280Met)
NM_052859.4(RFT1):c.886A>G (p.Ile296Val)
NM_052859.4(RFT1):c.904A>G (p.Ile302Val)
NM_052859.4(RFT1):c.905del (p.Ile302fs) rs2107115317
NM_052859.4(RFT1):c.946C>T (p.Leu316Phe) rs2107115119
NM_052859.4(RFT1):c.957+1G>A
NM_052859.4(RFT1):c.957G>C (p.Gln319His) rs886058724
NM_052859.4(RFT1):c.973G>A (p.Ala325Thr)
NM_052859.4(RFT1):c.979G>A (p.Ala327Thr) rs745493847
NM_052859.4(RFT1):c.988G>C (p.Glu330Gln) rs2107109292
NM_052859.4(RFT1):c.997C>T (p.Leu333Phe)

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