ClinVar Miner

List of variants reported as likely benign for Succinyl-CoA acetoacetate transferase deficiency by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_000436.4(OXCT1):c.1491C>T (p.Asp497=) rs144283422 0.00143
NM_000436.4(OXCT1):c.99C>G (p.Ser33=) rs182901792 0.00010
NM_000436.4(OXCT1):c.300G>T (p.Gly100=) rs140290234 0.00009
NM_000436.4(OXCT1):c.672-7C>T rs373008144 0.00008
NM_000436.4(OXCT1):c.873A>G (p.Glu291=) rs371211907 0.00006
NM_000436.4(OXCT1):c.196C>T (p.Leu66=) rs937509496 0.00005
NM_000436.4(OXCT1):c.825T>C (p.Tyr275=) rs751421452 0.00005
NM_000436.4(OXCT1):c.1299G>A (p.Ala433=) rs758849678 0.00002
NM_000436.4(OXCT1):c.387T>G (p.Gly129=) rs372702324 0.00002
NM_000436.4(OXCT1):c.717A>G (p.Glu239=) rs374056102 0.00002
NM_000436.4(OXCT1):c.1092C>T (p.Ile364=) rs1332967853 0.00001
NM_000436.4(OXCT1):c.1296T>C (p.Ser432=) rs1179365387 0.00001
NM_000436.4(OXCT1):c.1479G>A (p.Leu493=) rs752339317 0.00001
NM_000436.4(OXCT1):c.1509G>A (p.Gly503=) rs560172270 0.00001
NM_000436.4(OXCT1):c.510G>A (p.Ser170=) rs751233853 0.00001
NM_000436.4(OXCT1):c.564+19C>T rs774555590 0.00001
NM_000436.4(OXCT1):c.564+4A>G rs552141423 0.00001
NM_000436.4(OXCT1):c.956-15A>G rs886060636 0.00001
NM_000436.4(OXCT1):c.1089C>T (p.Leu363=)
NM_000436.4(OXCT1):c.1100-14G>C
NM_000436.4(OXCT1):c.1146C>T (p.Ser382=)
NM_000436.4(OXCT1):c.1182C>T (p.Val394=)
NM_000436.4(OXCT1):c.1374A>G (p.Leu458=)
NM_000436.4(OXCT1):c.1392A>G (p.Gln464=) rs1743663333
NM_000436.4(OXCT1):c.1475G>A (p.Gly492Asp)
NM_000436.4(OXCT1):c.147T>C (p.Ala49=) rs2112475355
NM_000436.4(OXCT1):c.1521+18C>G
NM_000436.4(OXCT1):c.1522-20T>G
NM_000436.4(OXCT1):c.1522-4C>T
NM_000436.4(OXCT1):c.1560T>C (p.Asn520=)
NM_000436.4(OXCT1):c.188-14T>C
NM_000436.4(OXCT1):c.188-14T>G
NM_000436.4(OXCT1):c.237A>G (p.Lys79=)
NM_000436.4(OXCT1):c.261A>T (p.Ala87=)
NM_000436.4(OXCT1):c.415-15G>A
NM_000436.4(OXCT1):c.42C>T (p.Cys14=)
NM_000436.4(OXCT1):c.486G>C (p.Gly162=)
NM_000436.4(OXCT1):c.564+14T>C
NM_000436.4(OXCT1):c.6G>A (p.Ala2=)
NM_000436.4(OXCT1):c.732+15T>C
NM_000436.4(OXCT1):c.747G>A (p.Val249=) rs1353698685
NM_000436.4(OXCT1):c.78+12G>A
NM_000436.4(OXCT1):c.78+17G>A
NM_000436.4(OXCT1):c.79-11T>A
NM_000436.4(OXCT1):c.79-20T>A
NM_000436.4(OXCT1):c.841-4A>G
NM_000436.4(OXCT1):c.955+18G>A

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