ClinVar Miner

List of variants in gene IBA57 reported as uncertain significance for inborn disorder of amino acid and other organic acid metabolism

Included ClinVar conditions (315):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 86
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HGVS dbSNP gnomAD frequency
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.574G>A (p.Ala192Thr) rs140163897 0.00034
NM_001010867.4(IBA57):c.23G>A (p.Arg8Gln) rs765179856 0.00027
NM_001010867.4(IBA57):c.259G>A (p.Gly87Arg) rs1026408197 0.00008
NM_001010867.4(IBA57):c.748A>G (p.Met250Val) rs370640121 0.00007
NM_001010867.4(IBA57):c.679+3A>G rs754620334 0.00006
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.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.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.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.1033G>A (p.Ala345Thr) rs150912462
NM_001010867.4(IBA57):c.1033G>T (p.Ala345Ser) rs150912462
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.116G>A (p.Gly39Asp)
NM_001010867.4(IBA57):c.169A>G (p.Thr57Ala)
NM_001010867.4(IBA57):c.172C>G (p.Leu58Val)
NM_001010867.4(IBA57):c.173T>C (p.Leu58Pro)
NM_001010867.4(IBA57):c.215G>C (p.Gly72Ala) rs1420144150
NM_001010867.4(IBA57):c.245G>C (p.Ser82Thr)
NM_001010867.4(IBA57):c.253_276del (p.Ala85_Ala92del)
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.304G>A (p.Val102Met) rs753218907
NM_001010867.4(IBA57):c.305T>C (p.Val102Ala) rs759005478
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.341+4A>C
NM_001010867.4(IBA57):c.342G>C (p.Gly114=)
NM_001010867.4(IBA57):c.354C>A (p.His118Gln) rs1315886237
NM_001010867.4(IBA57):c.373C>T (p.Leu125Phe)
NM_001010867.4(IBA57):c.390C>G (p.Ser130Arg)
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.439C>T (p.Arg147Trp)
NM_001010867.4(IBA57):c.480_481dup (p.Ala161fs)
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.535G>T (p.Ala179Ser)
NM_001010867.4(IBA57):c.599C>G (p.Thr200Ser) rs149136930
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.682G>C (p.Val228Leu) rs777266229
NM_001010867.4(IBA57):c.724C>T (p.Pro242Ser) rs923591178
NM_001010867.4(IBA57):c.737A>G (p.Asn246Ser)
NM_001010867.4(IBA57):c.778T>C (p.Tyr260His)
NM_001010867.4(IBA57):c.781A>C (p.Ile261Leu)
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.82A>G (p.Arg28Gly)
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.913C>T (p.Gln305Ter)
NM_001010867.4(IBA57):c.932G>C (p.Arg311Thr) rs1377813001
NM_001010867.4(IBA57):c.935del (p.Ala312fs)
NM_001010867.4(IBA57):c.94G>A (p.Ala32Thr)
NM_001010867.4(IBA57):c.970T>G (p.Ser324Ala)
NM_001010867.4(IBA57):c.979A>T (p.Ile327Phe)
NM_001010867.4(IBA57):c.989C>G (p.Pro330Arg) rs918873125

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