List of variants studied for Succinyl-CoA acetoacetate transferase deficiency by OMIM

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000436.4(OXCT1):c.661G>A (p.Val221Met)	rs121909303	0.00002
NM_000436.4(OXCT1):c.971G>A (p.Gly324Glu)	rs121909301	0.00001
NM_000436.3(OXCT1):c.[173C>T;398T>A]
NM_000436.4(OXCT1):c.1248+5G>A	rs1561081472
NM_000436.4(OXCT1):c.1367G>T (p.Cys456Phe)	rs121909300
NM_000436.4(OXCT1):c.656G>A (p.Gly219Glu)	rs121909302
NM_000436.4(OXCT1):c.848C>G (p.Ser283Ter)	rs121909299

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