List of variants reported as likely benign for beta-ketothiolase deficiency by Natera, Inc.

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000019.4(ACAT1):c.60G>C (p.Arg20=)	rs77311724	0.00219
NM_000019.4(ACAT1):c.979A>G (p.Ile327Val)	rs150038447	0.00020
NM_000019.4(ACAT1):c.502A>G (p.Thr168Ala)	rs577313004	0.00008
NM_000019.4(ACAT1):c.1209G>A (p.Lys403=)	rs200729208	0.00005
NM_000019.4(ACAT1):c.384A>G (p.Ser128=)	rs374439037	0.00004
NM_000019.4(ACAT1):c.918T>A (p.Val306=)	rs200318899	0.00004
NM_000019.4(ACAT1):c.1028A>G (p.Lys343Arg)	rs149171104	0.00003
NM_000019.4(ACAT1):c.436-4G>C	rs3741050

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