List of variants studied for Deficiency of acetyl-CoA acetyltransferase by Genome-Nilou Lab

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000019.4(ACAT1):c.435+78A>C	rs10890817	0.49701
NM_000019.4(ACAT1):c.13G>C (p.Ala5Pro)	rs3741056	0.27945
NM_000019.4(ACAT1):c.1005+25C>T	rs10890819	0.26160
NM_000019.4(ACAT1):c.-9T>A	rs3741055	0.26111
NM_000019.4(ACAT1):c.238+134A>C	rs7931681	0.23898
NM_000019.4(ACAT1):c.471C>A (p.Ser157=)	rs35188041	0.16806
NM_000019.4(ACAT1):c.816G>T (p.Gln272His)	rs139120939	0.00021
NM_000019.4(ACAT1):c.229G>A (p.Glu77Lys)	rs772848693	0.00001
NM_000019.4(ACAT1):c.-22C>G	rs3741054
NM_000019.4(ACAT1):c.10C>G (p.Leu4Val)	rs774524997
NM_000019.4(ACAT1):c.334+172C>G	rs12226047
NM_000019.4(ACAT1):c.826+85_826+86insGTAA	rs10682490
NM_000019.4(ACAT1):c.940+84C>T	rs12794010

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