ClinVar Miner

List of variants in gene IBA57 studied for hereditary spastic paraplegia

Included ClinVar conditions (140):
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Gene type:
ClinVar version:
Total variants: 198
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HGVS dbSNP gnomAD frequency
NM_001010867.4(IBA57):c.134G>C (p.Gly45Ala) rs55873785 0.31221
NM_001010867.4(IBA57):c.631G>A (p.Gly211Ser) rs2298014 0.25152
NM_001010867.4(IBA57):c.264C>G (p.Ala88=) rs13375853 0.01203
NM_001010867.4(IBA57):c.462C>T (p.His154=) rs148398789 0.00658
NM_001010867.4(IBA57):c.980T>C (p.Ile327Thr) rs61745091 0.00343
NM_001010867.4(IBA57):c.645C>T (p.Asp215=) rs61743941 0.00107
NM_001010867.4(IBA57):c.210G>C (p.Leu70=) rs199589485 0.00073
NM_001010867.4(IBA57):c.11C>T (p.Ala4Val) rs199781237 0.00072
NM_001010867.4(IBA57):c.599C>T (p.Thr200Ile) rs149136930 0.00071
NM_001010867.4(IBA57):c.780C>T (p.Tyr260=) rs202126055 0.00040
NM_001010867.4(IBA57):c.341+9G>A rs370043210 0.00034
NM_001010867.4(IBA57):c.574G>A (p.Ala192Thr) rs140163897 0.00034
NM_001010867.4(IBA57):c.680-14T>G rs375942905 0.00028
NM_001010867.4(IBA57):c.23G>A (p.Arg8Gln) rs765179856 0.00027
NM_001010867.4(IBA57):c.279C>G (p.Arg93=) rs750061256 0.00025
NM_001010867.4(IBA57):c.930C>G (p.Phe310Leu) rs142734560 0.00019
NM_001010867.4(IBA57):c.204C>T (p.Pro68=) rs376235022 0.00017
NM_001010867.4(IBA57):c.801C>T (p.Ala267=) rs138699407 0.00012
NM_001010867.4(IBA57):c.1032C>T (p.Ala344=) rs371687353 0.00010
NM_001010867.4(IBA57):c.259G>A (p.Gly87Arg) rs1026408197 0.00008
NM_001010867.4(IBA57):c.680-5T>A rs577050962 0.00008
NM_001010867.4(IBA57):c.150C>T (p.Cys50=) rs765132163 0.00007
NM_001010867.4(IBA57):c.748A>G (p.Met250Val) rs370640121 0.00007
NM_001010867.4(IBA57):c.162C>T (p.Asp54=) rs762720562 0.00006
NM_001010867.4(IBA57):c.342-14C>T rs368178420 0.00006
NM_001010867.4(IBA57):c.679+3A>G rs754620334 0.00006
NM_001010867.4(IBA57):c.947A>C (p.Asn316Thr) rs200319163 0.00006
NM_001010867.4(IBA57):c.894G>A (p.Thr298=) rs142711871 0.00005
NM_001010867.4(IBA57):c.114T>C (p.Pro38=) rs1051788506 0.00004
NM_001010867.4(IBA57):c.307C>T (p.Gln103Ter) rs778374267 0.00004
NM_001010867.4(IBA57):c.341+4A>G rs536036624 0.00004
NM_001010867.4(IBA57):c.304G>C (p.Val102Leu) rs753218907 0.00003
NM_001010867.4(IBA57):c.305T>G (p.Val102Gly) rs759005478 0.00003
NM_001010867.4(IBA57):c.316A>G (p.Thr106Ala) rs1053773776 0.00003
NM_001010867.4(IBA57):c.316del (p.Thr106fs) rs757794637 0.00003
NM_001010867.4(IBA57):c.837C>T (p.Leu279=) rs756776278 0.00003
NM_001010867.4(IBA57):c.138G>C (p.Ala46=) rs1037373507 0.00002
NM_001010867.4(IBA57):c.342-7C>A rs368007738 0.00002
NM_001010867.4(IBA57):c.766A>T (p.Thr256Ser) rs539057206 0.00002
NM_001010867.4(IBA57):c.866C>T (p.Pro289Leu) rs770987687 0.00002
NM_001010867.4(IBA57):c.190C>A (p.Pro64Thr) rs755628436 0.00001
NM_001010867.4(IBA57):c.206T>C (p.Phe69Ser) rs778284446 0.00001
NM_001010867.4(IBA57):c.227A>G (p.Asn76Ser) rs1168294957 0.00001
NM_001010867.4(IBA57):c.262G>A (p.Ala88Thr) rs1186238890 0.00001
NM_001010867.4(IBA57):c.266C>T (p.Pro89Leu) rs1191467500 0.00001
NM_001010867.4(IBA57):c.313C>T (p.Arg105Trp) rs1298056442 0.00001
NM_001010867.4(IBA57):c.335T>G (p.Leu112Trp) rs775646159 0.00001
NM_001010867.4(IBA57):c.471G>A (p.Leu157=) rs540662509 0.00001
NM_001010867.4(IBA57):c.566C>T (p.Pro189Leu) rs1403342810 0.00001
NM_001010867.4(IBA57):c.577C>T (p.Arg193Cys) rs1324456932 0.00001
NM_001010867.4(IBA57):c.589C>T (p.Arg197Trp) rs368114681 0.00001
NM_001010867.4(IBA57):c.639C>T (p.Leu213=) rs751616087 0.00001
NM_001010867.4(IBA57):c.706C>G (p.Pro236Ala) rs769063859 0.00001
NM_001010867.4(IBA57):c.826C>T (p.Arg276Cys) rs143575106 0.00001
NM_001010867.4(IBA57):c.827G>A (p.Arg276His) rs1245306816 0.00001
NM_001010867.4(IBA57):c.85T>G (p.Cys29Gly) rs951070079 0.00001
NM_001010867.4(IBA57):c.955C>T (p.Leu319=) rs186655921 0.00001
NM_001010867.4(IBA57):c.1005C>T (p.Ala335=)
NM_001010867.4(IBA57):c.1033G>A (p.Ala345Thr) rs150912462
NM_001010867.4(IBA57):c.1033G>T (p.Ala345Ser) rs150912462
NM_001010867.4(IBA57):c.1041G>T (p.Val347=)
NM_001010867.4(IBA57):c.1042C>G (p.Pro348Ala)
NM_001010867.4(IBA57):c.1055C>T (p.Pro352Leu)
NM_001010867.4(IBA57):c.1065del (p.Lys356fs) rs2124977415
NM_001010867.4(IBA57):c.110G>T (p.Ser37Ile)
NM_001010867.4(IBA57):c.116G>A (p.Gly39Asp)
NM_001010867.4(IBA57):c.143G>A (p.Trp48Ter)
NM_001010867.4(IBA57):c.147C>G (p.Ala49=)
NM_001010867.4(IBA57):c.156G>A (p.Arg52=) rs1571913232
NM_001010867.4(IBA57):c.157C>T (p.Leu53=)
NM_001010867.4(IBA57):c.159G>A (p.Leu53=)
NM_001010867.4(IBA57):c.169A>G (p.Thr57Ala)
NM_001010867.4(IBA57):c.172C>G (p.Leu58Val)
NM_001010867.4(IBA57):c.172C>T (p.Leu58=)
NM_001010867.4(IBA57):c.173T>C (p.Leu58Pro)
NM_001010867.4(IBA57):c.193_203dup (p.Phe69fs)
NM_001010867.4(IBA57):c.195C>T (p.Asp65=)
NM_001010867.4(IBA57):c.208C>T (p.Leu70=)
NM_001010867.4(IBA57):c.215G>C (p.Gly72Ala) rs1420144150
NM_001010867.4(IBA57):c.232C>G (p.Leu78Val) rs1022779300
NM_001010867.4(IBA57):c.245G>C (p.Ser82Thr)
NM_001010867.4(IBA57):c.253_276del (p.Ala85_Ala92del)
NM_001010867.4(IBA57):c.255C>T (p.Ala85=)
NM_001010867.4(IBA57):c.262dup (p.Ala88fs) rs1558123212
NM_001010867.4(IBA57):c.264C>T (p.Ala88=)
NM_001010867.4(IBA57):c.265_286dup (p.Tyr96fs) rs2034846986
NM_001010867.4(IBA57):c.269C>T (p.Pro90Leu)
NM_001010867.4(IBA57):c.26G>T (p.Gly9Val)
NM_001010867.4(IBA57):c.272C>G (p.Ala91Gly) rs539907686
NM_001010867.4(IBA57):c.27C>T (p.Gly9=)
NM_001010867.4(IBA57):c.284_285insT (p.Tyr96fs)
NM_001010867.4(IBA57):c.285C>A (p.Gly95=)
NM_001010867.4(IBA57):c.285C>T (p.Gly95=) rs1276192566
NM_001010867.4(IBA57):c.286T>C (p.Tyr96His) rs765926471
NM_001010867.4(IBA57):c.287A>G (p.Tyr96Cys)
NM_001010867.4(IBA57):c.298C>T (p.Leu100=) rs12132960
NM_001010867.4(IBA57):c.304G>A (p.Val102Met) rs753218907
NM_001010867.4(IBA57):c.305T>C (p.Val102Ala) rs759005478
NM_001010867.4(IBA57):c.30C>T (p.Ala10=)
NM_001010867.4(IBA57):c.315G>A (p.Arg105=)
NM_001010867.4(IBA57):c.316A>T (p.Thr106Ser)
NM_001010867.4(IBA57):c.319C>T (p.Leu107Phe)
NM_001010867.4(IBA57):c.31A>T (p.Thr11Ser) rs2034839816
NM_001010867.4(IBA57):c.326A>G (p.Asp109Gly)
NM_001010867.4(IBA57):c.335T>A (p.Leu112Ter) rs775646159
NM_001010867.4(IBA57):c.339C>G (p.Tyr113Ter)
NM_001010867.4(IBA57):c.339C>T (p.Tyr113=)
NM_001010867.4(IBA57):c.33T>A (p.Thr11=)
NM_001010867.4(IBA57):c.341+1G>A rs1250537283
NM_001010867.4(IBA57):c.341+1G>T rs1250537283
NM_001010867.4(IBA57):c.341+20G>A
NM_001010867.4(IBA57):c.341+2T>G
NM_001010867.4(IBA57):c.341+4A>C
NM_001010867.4(IBA57):c.342-14CT[2]
NM_001010867.4(IBA57):c.342-15C>T
NM_001010867.4(IBA57):c.342-488_361del
NM_001010867.4(IBA57):c.342-4_342-3delinsAA
NM_001010867.4(IBA57):c.342G>C (p.Gly114=)
NM_001010867.4(IBA57):c.354C>A (p.His118Gln) rs1315886237
NM_001010867.4(IBA57):c.372C>T (p.Phe124=)
NM_001010867.4(IBA57):c.373C>T (p.Leu125Phe)
NM_001010867.4(IBA57):c.376C>T (p.Leu126=)
NM_001010867.4(IBA57):c.384dup (p.Asp129Ter) rs1571918251
NM_001010867.4(IBA57):c.390C>G (p.Ser130Arg)
NM_001010867.4(IBA57):c.399G>A (p.Gln133=)
NM_001010867.4(IBA57):c.39G>A (p.Gly13=)
NM_001010867.4(IBA57):c.402C>A (p.Gly134=)
NM_001010867.4(IBA57):c.420C>G (p.Leu140=) rs555630458
NM_001010867.4(IBA57):c.420C>T (p.Leu140=) rs555630458
NM_001010867.4(IBA57):c.421_422delinsAG (p.Ala141Arg) rs2124976596
NM_001010867.4(IBA57):c.434T>C (p.Ile145Thr) rs2034983313
NM_001010867.4(IBA57):c.435C>A (p.Ile145=)
NM_001010867.4(IBA57):c.439C>T (p.Arg147Trp)
NM_001010867.4(IBA57):c.454G>T (p.Glu152Ter)
NM_001010867.4(IBA57):c.459G>A (p.Pro153=)
NM_001010867.4(IBA57):c.465G>C (p.Pro155=)
NM_001010867.4(IBA57):c.480_481dup (p.Ala161fs)
NM_001010867.4(IBA57):c.483G>T (p.Ala161=)
NM_001010867.4(IBA57):c.488T>C (p.Leu163Ser) rs2124976694
NM_001010867.4(IBA57):c.493A>G (p.Ser165Gly)
NM_001010867.4(IBA57):c.494G>A (p.Ser165Asn)
NM_001010867.4(IBA57):c.506C>T (p.Ala169Val)
NM_001010867.4(IBA57):c.511G>A (p.Gly171Arg)
NM_001010867.4(IBA57):c.522G>A (p.Ser174=)
NM_001010867.4(IBA57):c.535G>T (p.Ala179Ser)
NM_001010867.4(IBA57):c.537A>C (p.Ala179=)
NM_001010867.4(IBA57):c.54C>T (p.Val18=)
NM_001010867.4(IBA57):c.567G>T (p.Pro189=) rs764091126
NM_001010867.4(IBA57):c.576A>C (p.Ala192=)
NM_001010867.4(IBA57):c.585G>A (p.Gly195=) rs2124976810
NM_001010867.4(IBA57):c.594C>T (p.Leu198=)
NM_001010867.4(IBA57):c.599C>G (p.Thr200Ser) rs149136930
NM_001010867.4(IBA57):c.612C>G (p.Gly204=)
NM_001010867.4(IBA57):c.633C>T (p.Gly211=)
NM_001010867.4(IBA57):c.640G>A (p.Gly214Arg)
NM_001010867.4(IBA57):c.664C>G (p.His222Asp) rs1131691510
NM_001010867.4(IBA57):c.668G>A (p.Arg223Gln)
NM_001010867.4(IBA57):c.678A>G (p.Gln226=) rs876657407
NM_001010867.4(IBA57):c.680-11A>G
NM_001010867.4(IBA57):c.680-15del
NM_001010867.4(IBA57):c.680-16C>A
NM_001010867.4(IBA57):c.680-18C>G
NM_001010867.4(IBA57):c.680-6C>T
NM_001010867.4(IBA57):c.682G>C (p.Val228Leu) rs777266229
NM_001010867.4(IBA57):c.693G>A (p.Gly231=)
NM_001010867.4(IBA57):c.696C>A (p.Val232=)
NM_001010867.4(IBA57):c.720C>T (p.Ala240=)
NM_001010867.4(IBA57):c.737A>G (p.Asn246Ser)
NM_001010867.4(IBA57):c.739C>T (p.Leu247=)
NM_001010867.4(IBA57):c.74_75del (p.Ala25fs)
NM_001010867.4(IBA57):c.753C>T (p.Asn251=)
NM_001010867.4(IBA57):c.768C>T (p.Thr256=) rs760717161
NM_001010867.4(IBA57):c.781A>C (p.Ile261Leu)
NM_001010867.4(IBA57):c.78C>T (p.Ala26=)
NM_001010867.4(IBA57):c.790G>A (p.Glu264Lys)
NM_001010867.4(IBA57):c.79C>A (p.Pro27Thr)
NM_001010867.4(IBA57):c.802C>T (p.Arg268Cys) rs1332185635
NM_001010867.4(IBA57):c.814A>G (p.Met272Val)
NM_001010867.4(IBA57):c.825C>T (p.Ile275=)
NM_001010867.4(IBA57):c.82A>G (p.Arg28Gly)
NM_001010867.4(IBA57):c.84G>A (p.Arg28=)
NM_001010867.4(IBA57):c.851T>C (p.Phe284Ser)
NM_001010867.4(IBA57):c.893C>T (p.Thr298Met) rs375395876
NM_001010867.4(IBA57):c.89G>A (p.Arg30His) rs2034841698
NM_001010867.4(IBA57):c.906C>G (p.Ala302=)
NM_001010867.4(IBA57):c.913C>T (p.Gln305Ter)
NM_001010867.4(IBA57):c.931A>G (p.Arg311Gly)
NM_001010867.4(IBA57):c.932G>C (p.Arg311Thr) rs1377813001
NM_001010867.4(IBA57):c.935del (p.Ala312fs)
NM_001010867.4(IBA57):c.948C>T (p.Asn316=)
NM_001010867.4(IBA57):c.94G>A (p.Ala32Thr)
NM_001010867.4(IBA57):c.961C>T (p.Leu321=) rs376206530
NM_001010867.4(IBA57):c.970T>G (p.Ser324Ala)
NM_001010867.4(IBA57):c.979A>T (p.Ile327Phe)
NM_001010867.4(IBA57):c.987T>G (p.Gly329=)
NM_001010867.4(IBA57):c.988C>T (p.Pro330Ser)
NM_001010867.4(IBA57):c.989C>G (p.Pro330Arg) rs918873125
NM_001010867.4(IBA57):c.996C>T (p.His332=)

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