ClinVar Miner

List of variants reported as uncertain significance for Deficiency of acetyl-CoA acetyltransferase by Genome-Nilou Lab

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
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.10C>G (p.Leu4Val)	rs774524997

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