ClinVar Miner

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

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000436.3(OXCT1):c.-346G>A rs138037654 0.01059
NM_000436.4(OXCT1):c.112C>T (p.Arg38Cys) rs76956231 0.00520
NM_000436.4(OXCT1):c.733-3T>C rs77000151 0.00315
NM_000436.4(OXCT1):c.696G>A (p.Leu232=) rs138363255 0.00234
NM_000436.4(OXCT1):c.*1345A>G rs569333641 0.00015
NM_000436.4(OXCT1):c.*157G>A rs555729750 0.00006
NM_000436.4(OXCT1):c.564+4A>G rs552141423 0.00001
NM_000436.4(OXCT1):c.1183G>A (p.Asp395Asn) rs544345952
NM_000436.4(OXCT1):c.1506T>C (p.Thr502=) rs368510146
NM_000436.4(OXCT1):c.480G>A (p.Gly160=) rs78432029
NM_000436.4(OXCT1):c.78+10dup rs368390833

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