ClinVar Miner

List of variants in gene RFT1 reported as likely benign for RFT1-congenital disorder of glycosylation

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Gene type:
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Total variants: 184
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HGVS dbSNP gnomAD frequency
NM_052859.4(RFT1):c.64-14C>T rs78419624 0.01456
NM_052859.4(RFT1):c.*799T>A rs148552528 0.00885
NM_052859.4(RFT1):c.382C>T (p.Leu128Phe) rs140127085 0.00219
NM_052859.4(RFT1):c.1118G>A (p.Arg373His) rs77976718 0.00211
NM_052859.4(RFT1):c.1400T>G (p.Leu467Arg) rs144042263 0.00140
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.457-10_457-9del rs778675860 0.00049
NM_052859.4(RFT1):c.520T>C (p.Leu174=) rs149266076 0.00048
NM_052859.4(RFT1):c.1356C>T (p.Arg452=) rs113829901 0.00034
NM_052859.4(RFT1):c.831G>A (p.Val277=) rs150391936 0.00021
NM_052859.4(RFT1):c.266C>T (p.Thr89Ile) rs199788972 0.00020
NM_052859.4(RFT1):c.632C>T (p.Thr211Ile) rs148289202 0.00020
NM_052859.4(RFT1):c.149+16C>T rs201161797 0.00016
NM_052859.4(RFT1):c.136G>A (p.Val46Ile) rs141174358 0.00014
NM_052859.4(RFT1):c.1332G>A (p.Thr444=) rs139487607 0.00012
NM_052859.4(RFT1):c.1102+15T>A rs779365531 0.00011
NM_052859.4(RFT1):c.1401A>G (p.Leu467=) rs138028490 0.00011
NM_052859.4(RFT1):c.579G>T (p.Leu193=) rs141793370 0.00011
NM_052859.4(RFT1):c.978T>C (p.Ala326=) rs372101755 0.00011
NM_052859.4(RFT1):c.827-14T>C rs571722733 0.00010
NM_052859.4(RFT1):c.165C>T (p.Tyr55=) rs149529625 0.00009
NM_052859.4(RFT1):c.924G>A (p.Leu308=) rs140603849 0.00009
NM_052859.4(RFT1):c.150-7T>C rs189282239 0.00008
NM_052859.4(RFT1):c.1599G>A (p.Val533=) rs372235619 0.00008
NM_052859.4(RFT1):c.1017C>T (p.Ala339=) rs142123445 0.00007
NM_052859.4(RFT1):c.1209-6C>T rs543699868 0.00007
NM_052859.4(RFT1):c.1458+18A>T rs373019694 0.00006
NM_052859.4(RFT1):c.559-15T>G rs371166734 0.00005
NM_052859.4(RFT1):c.657C>T (p.Ser219=) rs149157065 0.00005
NM_052859.4(RFT1):c.849T>C (p.Asn283=) rs369926092 0.00005
NM_052859.4(RFT1):c.1208+15A>G rs1448297165 0.00004
NM_052859.4(RFT1):c.1209-16C>T rs567150690 0.00004
NM_052859.4(RFT1):c.1344C>T (p.Cys448=) rs369135875 0.00004
NM_052859.4(RFT1):c.345T>C (p.Val115=) rs761692538 0.00004
NM_052859.4(RFT1):c.387G>A (p.Ser129=) rs914696330 0.00004
NM_052859.4(RFT1):c.821A>G (p.Asp274Gly) rs781066087 0.00004
NM_052859.4(RFT1):c.1071C>T (p.Ile357=) rs367909153 0.00003
NM_052859.4(RFT1):c.117G>A (p.Leu39=) rs368675325 0.00003
NM_052859.4(RFT1):c.264A>G (p.Leu88=) rs751934184 0.00003
NM_052859.4(RFT1):c.267-9C>G rs1396877928 0.00003
NM_052859.4(RFT1):c.1606C>T (p.Arg536Cys) rs376867132 0.00002
NM_052859.4(RFT1):c.558+10A>T rs780500145 0.00002
NM_052859.4(RFT1):c.64-16T>C rs773512206 0.00002
NM_052859.4(RFT1):c.958-17C>T rs375365942 0.00002
NM_052859.4(RFT1):c.*240T>C rs534506262 0.00001
NM_052859.4(RFT1):c.1074C>T (p.Tyr358=) rs762817759 0.00001
NM_052859.4(RFT1):c.1095A>G (p.Ser365=) rs759269012 0.00001
NM_052859.4(RFT1):c.1203C>T (p.Val401=) rs555227282 0.00001
NM_052859.4(RFT1):c.1208+20C>T rs1701244022 0.00001
NM_052859.4(RFT1):c.1209-4C>T rs1475575801 0.00001
NM_052859.4(RFT1):c.1269C>G (p.Thr423=) rs1271059666 0.00001
NM_052859.4(RFT1):c.1284C>T (p.Ser428=) rs773206764 0.00001
NM_052859.4(RFT1):c.132T>C (p.Val44=) rs1218035102 0.00001
NM_052859.4(RFT1):c.1377C>T (p.His459=) rs1406468804 0.00001
NM_052859.4(RFT1):c.1384C>T (p.Leu462=) rs1701022192 0.00001
NM_052859.4(RFT1):c.1407A>G (p.Pro469=) rs750985409 0.00001
NM_052859.4(RFT1):c.149+13G>A rs866873760 0.00001
NM_052859.4(RFT1):c.156G>A (p.Thr52=) rs775437985 0.00001
NM_052859.4(RFT1):c.201C>T (p.Arg67=) rs954135080 0.00001
NM_052859.4(RFT1):c.266+16G>T rs1275153388 0.00001
NM_052859.4(RFT1):c.492C>T (p.Ser164=) rs767438719 0.00001
NM_052859.4(RFT1):c.496C>T (p.Leu166=) rs751774742 0.00001
NM_052859.4(RFT1):c.516G>A (p.Leu172=) rs1290755219 0.00001
NM_052859.4(RFT1):c.555C>T (p.Ala185=) rs1183969513 0.00001
NM_052859.4(RFT1):c.559-6T>C rs1204891856 0.00001
NM_052859.4(RFT1):c.573A>C (p.Thr191=) rs528184485 0.00001
NM_052859.4(RFT1):c.675A>G (p.Leu225=) rs1344235659 0.00001
NM_052859.4(RFT1):c.697-13T>G rs928587361 0.00001
NM_052859.4(RFT1):c.777C>T (p.Gly259=) rs752385816 0.00001
NM_052859.4(RFT1):c.969T>C (p.Ala323=) rs893435134 0.00001
NM_052859.4(RFT1):c.1003C>T (p.Leu335=) rs2107109171
NM_052859.4(RFT1):c.1005G>A (p.Leu335=)
NM_052859.4(RFT1):c.1005G>C (p.Leu335=)
NM_052859.4(RFT1):c.1008C>G (p.Ala336=) rs199734288
NM_052859.4(RFT1):c.1009C>T (p.Leu337=) rs1701393196
NM_052859.4(RFT1):c.1020C>T (p.Gly340=) rs766360090
NM_052859.4(RFT1):c.1032T>A (p.Thr344=)
NM_052859.4(RFT1):c.1102+17T>C
NM_052859.4(RFT1):c.1102+8C>A
NM_052859.4(RFT1):c.1103-14T>C
NM_052859.4(RFT1):c.1103-5T>C rs1338060752
NM_052859.4(RFT1):c.1103-6T>C
NM_052859.4(RFT1):c.1103-8C>A rs1701250241
NM_052859.4(RFT1):c.1103-9T>C
NM_052859.4(RFT1):c.1143G>C (p.Leu381=)
NM_052859.4(RFT1):c.1167G>A (p.Glu389=)
NM_052859.4(RFT1):c.1197G>A (p.Glu399=) rs765986260
NM_052859.4(RFT1):c.1208+11T>C
NM_052859.4(RFT1):c.1208+7A>G
NM_052859.4(RFT1):c.1209-18T>C
NM_052859.4(RFT1):c.129C>T (p.Ile43=) rs148510042
NM_052859.4(RFT1):c.1314C>T (p.Asn438=)
NM_052859.4(RFT1):c.1326G>A (p.Arg442=)
NM_052859.4(RFT1):c.1332G>T (p.Thr444=) rs139487607
NM_052859.4(RFT1):c.1341T>G (p.Leu447=) rs2107071678
NM_052859.4(RFT1):c.1359C>T (p.Tyr453=)
NM_052859.4(RFT1):c.135C>T (p.Gly45=)
NM_052859.4(RFT1):c.1386G>A (p.Leu462=)
NM_052859.4(RFT1):c.138A>G (p.Val46=) rs1702095360
NM_052859.4(RFT1):c.1398C>T (p.His466=)
NM_052859.4(RFT1):c.1401A>T (p.Leu467=)
NM_052859.4(RFT1):c.1404G>A (p.Ser468=) rs1366809549
NM_052859.4(RFT1):c.1416C>T (p.Leu472=)
NM_052859.4(RFT1):c.144T>C (p.Asn48=)
NM_052859.4(RFT1):c.1458+15G>C
NM_052859.4(RFT1):c.1458+16C>T
NM_052859.4(RFT1):c.1459-14G>A
NM_052859.4(RFT1):c.1459-14G>T rs1295786345
NM_052859.4(RFT1):c.1459-17A>G
NM_052859.4(RFT1):c.1476G>A (p.Glu492=) rs1701005503
NM_052859.4(RFT1):c.1479G>A (p.Gln493=) rs780448463
NM_052859.4(RFT1):c.149+10G>T
NM_052859.4(RFT1):c.149+16C>G rs201161797
NM_052859.4(RFT1):c.149+17C>G
NM_052859.4(RFT1):c.150-14C>T
NM_052859.4(RFT1):c.150-17C>T
NM_052859.4(RFT1):c.150-8A>G
NM_052859.4(RFT1):c.1515G>A (p.Gly505=)
NM_052859.4(RFT1):c.153A>G (p.Leu51=)
NM_052859.4(RFT1):c.1560G>A (p.Glu520=) rs369800703
NM_052859.4(RFT1):c.156G>T (p.Thr52=)
NM_052859.4(RFT1):c.1581C>T (p.Leu527=) rs2107069217
NM_052859.4(RFT1):c.1608C>G (p.Arg536=)
NM_052859.4(RFT1):c.1608C>T (p.Arg536=)
NM_052859.4(RFT1):c.181C>T (p.Leu61=)
NM_052859.4(RFT1):c.249C>T (p.Leu83=)
NM_052859.4(RFT1):c.253C>T (p.Leu85=)
NM_052859.4(RFT1):c.266+10G>A
NM_052859.4(RFT1):c.266+13T>A
NM_052859.4(RFT1):c.266+20G>A
NM_052859.4(RFT1):c.267-16T>A rs2107165275
NM_052859.4(RFT1):c.267-4C>G
NM_052859.4(RFT1):c.267-4C>T rs1473728720
NM_052859.4(RFT1):c.267-5T>A
NM_052859.4(RFT1):c.273C>G (p.Pro91=)
NM_052859.4(RFT1):c.274C>T (p.Leu92=)
NM_052859.4(RFT1):c.276G>C (p.Leu92=)
NM_052859.4(RFT1):c.285T>C (p.Phe95=)
NM_052859.4(RFT1):c.324T>C (p.Leu108=) rs2107164889
NM_052859.4(RFT1):c.351T>C (p.Pro117=)
NM_052859.4(RFT1):c.373C>T (p.Leu125=) rs1701996497
NM_052859.4(RFT1):c.384C>T (p.Leu128=)
NM_052859.4(RFT1):c.390A>G (p.Ala130=)
NM_052859.4(RFT1):c.405A>G (p.Leu135=)
NM_052859.4(RFT1):c.457-19C>G rs2107162471
NM_052859.4(RFT1):c.477G>A (p.Ser159=) rs750521781
NM_052859.4(RFT1):c.477G>C (p.Ser159=) rs750521781
NM_052859.4(RFT1):c.498G>A (p.Leu166=)
NM_052859.4(RFT1):c.501A>G (p.Thr167=)
NM_052859.4(RFT1):c.510C>T (p.Leu170=)
NM_052859.4(RFT1):c.558+10A>G
NM_052859.4(RFT1):c.559-14del
NM_052859.4(RFT1):c.559-20C>T rs2107157946
NM_052859.4(RFT1):c.613C>T (p.Leu205=)
NM_052859.4(RFT1):c.642A>G (p.Gln214=)
NM_052859.4(RFT1):c.66G>A (p.Val22=) rs2107173481
NM_052859.4(RFT1):c.697-11_697-10dup
NM_052859.4(RFT1):c.697-24GTTTT[2]
NM_052859.4(RFT1):c.697-24GTTTT[4] rs763098152
NM_052859.4(RFT1):c.697-7_697-3del rs1354146170
NM_052859.4(RFT1):c.699G>A (p.Ala233=) rs763683975
NM_052859.4(RFT1):c.699G>T (p.Ala233=)
NM_052859.4(RFT1):c.738T>C (p.Phe246=)
NM_052859.4(RFT1):c.744A>G (p.Lys248=)
NM_052859.4(RFT1):c.762G>A (p.Gln254=)
NM_052859.4(RFT1):c.775+20G>A rs961442737
NM_052859.4(RFT1):c.775+20G>C
NM_052859.4(RFT1):c.775+9A>C
NM_052859.4(RFT1):c.776-10T>C
NM_052859.4(RFT1):c.776-13T>G
NM_052859.4(RFT1):c.776-16G>T
NM_052859.4(RFT1):c.776-5T>C rs2107119402
NM_052859.4(RFT1):c.786T>C (p.Tyr262=)
NM_052859.4(RFT1):c.826+14C>T
NM_052859.4(RFT1):c.826+16G>A
NM_052859.4(RFT1):c.827-3dup
NM_052859.4(RFT1):c.834T>C (p.Tyr278=)
NM_052859.4(RFT1):c.945A>G (p.Thr315=)
NM_052859.4(RFT1):c.954G>A (p.Lys318=)
NM_052859.4(RFT1):c.958-13_958-9del
NM_052859.4(RFT1):c.958-19C>G
NM_052859.4(RFT1):c.958-7G>C rs997959901
NM_052859.4(RFT1):c.958-9T>G

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