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

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Total variants: 33

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HGVS	dbSNP	gnomAD frequency
NM_000436.3(OXCT1):c.-215A>G	rs1876654	0.22030
NM_000436.4(OXCT1):c.671+31A>G	rs13164201	0.18520
NM_000436.4(OXCT1):c.414+7A>C	rs7723992	0.13820
NM_000436.4(OXCT1):c.480G>T (p.Gly160=)	rs78432029	0.01211
NM_000436.4(OXCT1):c.*1434G>C	rs77675837	0.01110
NM_000436.4(OXCT1):c.*1444G>T	rs10227	0.01009
NM_000436.4(OXCT1):c.112C>T (p.Arg38Cys)	rs76956231	0.00520
NM_000436.4(OXCT1):c.279-7C>T	rs200695197	0.00436
NM_000436.4(OXCT1):c.650G>T (p.Arg217Leu)	rs142383658	0.00320
NM_000436.4(OXCT1):c.733-3T>C	rs77000151	0.00315
NM_000436.4(OXCT1):c.1099+17C>G	rs78253456	0.00303
NM_000436.4(OXCT1):c.696G>A (p.Leu232=)	rs138363255	0.00234
NM_000436.4(OXCT1):c.660C>T (p.Asn220=)	rs148089241	0.00215
NM_000436.4(OXCT1):c.-60C>G	rs182767661	0.00130
NM_000436.4(OXCT1):c.1080T>C (p.Asp360=)	rs140869022	0.00102
NM_000436.4(OXCT1):c.173C>T (p.Thr58Met)	rs75134564	0.00053
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.*935A>G	rs184393125	0.00019
NM_000436.3(OXCT1):c.-192G>A	rs75587220
NM_000436.4(OXCT1):c.1100-18GT[6]
NM_000436.4(OXCT1):c.1100-18GT[8]
NM_000436.4(OXCT1):c.1100-19del
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.1522-14del	rs200971301
NM_000436.4(OXCT1):c.1522-14dup	rs200971301
NM_000436.4(OXCT1):c.414+18del
NM_000436.4(OXCT1):c.480G>A (p.Gly160=)	rs78432029
NM_000436.4(OXCT1):c.78+10dup	rs368390833
NM_000436.4(OXCT1):c.79-11del	rs748715820
NM_000436.4(OXCT1):c.79-22_79-21dup	rs748715820
NM_000436.4(OXCT1):c.79-22dup	rs748715820

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