ClinVar Miner

List of variants reported as uncertain significance for Succinyl-CoA acetoacetate transferase deficiency

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ClinVar version:
Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_000436.4(OXCT1):c.*191A>G rs185659338 0.00357
NM_000436.4(OXCT1):c.1491C>T (p.Asp497=) rs144283422 0.00143
NM_000436.4(OXCT1):c.*1041G>A rs561517616 0.00120
NM_000436.4(OXCT1):c.1080T>C (p.Asp360=) rs140869022 0.00102
NM_000436.4(OXCT1):c.565-13C>T rs370659097 0.00041
NM_000436.4(OXCT1):c.477A>G (p.Thr159=) rs141567487 0.00038
NM_000436.4(OXCT1):c.*1473G>T rs991465345 0.00025
NM_000436.4(OXCT1):c.*26G>A rs190436225 0.00019
NM_000436.4(OXCT1):c.*1072A>G rs557656999 0.00016
NM_000436.4(OXCT1):c.*956T>C rs17847289 0.00009
NM_000436.3(OXCT1):c.-305G>A rs760328716 0.00005
NM_000436.4(OXCT1):c.*965T>C rs760360084 0.00005
NM_000436.4(OXCT1):c.1180G>A (p.Val394Ile) rs772982372 0.00005
NM_000436.4(OXCT1):c.1370C>G (p.Thr457Arg) rs369643387 0.00005
NM_000436.3(OXCT1):c.-137G>A rs865783219 0.00004
NM_000436.4(OXCT1):c.*362C>A rs774451948 0.00004
NM_000436.4(OXCT1):c.1099+2T>C rs202242762 0.00004
NM_000436.4(OXCT1):c.1555G>A (p.Ala519Thr) rs180683984 0.00004
NM_000436.4(OXCT1):c.672-3T>C rs534705079 0.00004
NM_000436.4(OXCT1):c.853C>T (p.Arg285Trp) rs750604881 0.00004
NM_000436.4(OXCT1):c.854G>A (p.Arg285Gln) rs766119402 0.00004
NM_000436.3(OXCT1):c.-103G>A rs1457113330 0.00002
NM_000436.4(OXCT1):c.*1616A>G rs568827750 0.00002
NM_000436.4(OXCT1):c.*567C>T rs886060633 0.00002
NM_000436.4(OXCT1):c.1339-12T>C rs747453069 0.00002
NM_000436.4(OXCT1):c.644C>T (p.Ala215Val) rs201752548 0.00002
NM_000436.4(OXCT1):c.661G>A (p.Val221Met) rs121909303 0.00002
NM_000436.4(OXCT1):c.671+3A>G rs766352197 0.00002
NM_000436.3(OXCT1):c.-133G>A rs886060640 0.00001
NM_000436.4(OXCT1):c.*1011T>C rs1042451031 0.00001
NM_000436.4(OXCT1):c.*1023G>A rs1009268135 0.00001
NM_000436.4(OXCT1):c.*138C>A rs886060634 0.00001
NM_000436.4(OXCT1):c.*188A>G rs1051109919 0.00001
NM_000436.4(OXCT1):c.*583G>T rs1444714934 0.00001
NM_000436.4(OXCT1):c.1202C>T (p.Ala401Val) rs746345071 0.00001
NM_000436.4(OXCT1):c.1492G>A (p.Val498Ile) rs778813276 0.00001
NM_000436.4(OXCT1):c.16C>T (p.Leu6Phe) rs929460800 0.00001
NM_000436.4(OXCT1):c.518A>G (p.Lys173Arg) rs886060637 0.00001
NM_000436.4(OXCT1):c.64G>T (p.Ala22Ser) rs1750229851 0.00001
NM_000436.4(OXCT1):c.79-12T>C rs748675329 0.00001
NM_000436.4(OXCT1):c.812A>G (p.Lys271Arg) rs757407425 0.00001
NM_000436.4(OXCT1):c.956-15A>G rs886060636 0.00001
NC_000005.9:g.(?_41731831)_(41731892_?)del
NM_000436.4(OXCT1):c.*1077dup rs768996194
NM_000436.4(OXCT1):c.*1229C>T rs191846235
NM_000436.4(OXCT1):c.*1266A>T rs958750765
NM_000436.4(OXCT1):c.*94A>G rs886060635
NM_000436.4(OXCT1):c.-54G>A rs886060639
NM_000436.4(OXCT1):c.-5C>G rs200129807
NM_000436.4(OXCT1):c.1100-6G>T
NM_000436.4(OXCT1):c.1115C>T (p.Thr372Ile) rs2112231295
NM_000436.4(OXCT1):c.1321A>G (p.Met441Val)
NM_000436.4(OXCT1):c.1403G>A (p.Arg468His)
NM_000436.4(OXCT1):c.1403G>T (p.Arg468Leu) rs2112046817
NM_000436.4(OXCT1):c.1413T>G (p.Thr471=) rs1743662670
NM_000436.4(OXCT1):c.1424T>C (p.Val475Ala)
NM_000436.4(OXCT1):c.148G>A (p.Val50Ile) rs1749791315
NM_000436.4(OXCT1):c.1520C>T (p.Ala507Val) rs745896456
NM_000436.4(OXCT1):c.1541C>T (p.Pro514Leu)
NM_000436.4(OXCT1):c.1543A>G (p.Met515Val) rs1742641646
NM_000436.4(OXCT1):c.251G>A (p.Gly84Glu)
NM_000436.4(OXCT1):c.283G>C (p.Asp95His)
NM_000436.4(OXCT1):c.326A>C (p.Lys109Thr) rs2112450033
NM_000436.4(OXCT1):c.329G>A (p.Arg110His)
NM_000436.4(OXCT1):c.39C>G (p.Leu13=) rs779623287
NM_000436.4(OXCT1):c.402G>T (p.Glu134Asp) rs886060638
NM_000436.4(OXCT1):c.516C>G (p.Ile172Met)
NM_000436.4(OXCT1):c.523A>G (p.Asn175Asp)
NM_000436.4(OXCT1):c.564+44C>T
NM_000436.4(OXCT1):c.671+6G>A rs760722090
NM_000436.4(OXCT1):c.674A>G (p.Lys225Arg)
NM_000436.4(OXCT1):c.732+6A>G
NM_000436.4(OXCT1):c.733G>T (p.Val245Phe) rs727504063
NM_000436.4(OXCT1):c.79-11del rs748715820
NM_000436.4(OXCT1):c.79-22dup rs748715820
NM_000436.4(OXCT1):c.824A>G (p.Tyr275Cys)
NM_000436.4(OXCT1):c.842G>A (p.Arg281His)
NM_000436.4(OXCT1):c.863G>C (p.Gly288Ala)
NM_000436.4(OXCT1):c.930_931delinsCT (p.Leu311Phe) rs1746638676
NM_000436.4(OXCT1):c.955+4T>G rs1579774376
NM_000436.4(OXCT1):c.955G>A (p.Ala319Thr)
NM_000436.4(OXCT1):c.973A>G (p.Ile325Val)

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