ClinVar Miner

List of variants reported as uncertain significance for Succinyl-CoA acetoacetate transferase deficiency by Illumina Laboratory Services, Illumina

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Total variants: 42
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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_000436.3(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_000436.3(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.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.16C>T (p.Leu6Phe) rs929460800 0.00001
NM_000436.4(OXCT1):c.518A>G (p.Lys173Arg) rs886060637 0.00001
NM_000436.4(OXCT1):c.79-12T>C rs748675329 0.00001
NM_000436.4(OXCT1):c.956-15A>G rs886060636 0.00001
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.1413T>G (p.Thr471=) rs1743662670
NM_000436.4(OXCT1):c.1520C>T (p.Ala507Val) rs745896456
NM_000436.4(OXCT1):c.402G>T (p.Glu134Asp) rs886060638
NM_000436.4(OXCT1):c.79-11del rs748715820
NM_000436.4(OXCT1):c.79-22dup rs748715820

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