List of variants reported as uncertain significance 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: 29

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HGVS	dbSNP	gnomAD frequency
NM_000019.4(ACAT1):c.1217A>G (p.Glu406Gly)	rs147872303	0.00030
NM_000019.4(ACAT1):c.816G>T (p.Gln272His)	rs139120939	0.00021
NM_000019.4(ACAT1):c.1003A>G (p.Met335Val)	rs369440498	0.00012
NM_000019.4(ACAT1):c.772C>T (p.Arg258Cys)	rs753816946	0.00010
NM_000019.4(ACAT1):c.-5C>T	rs747790910	0.00006
NM_000019.4(ACAT1):c.1221C>T (p.Tyr407=)	rs367713788	0.00006
NM_000019.4(ACAT1):c.85G>T (p.Val29Leu)	rs764142914	0.00006
NM_000019.4(ACAT1):c.891G>A (p.Thr297=)	rs372169445	0.00006
NM_000019.4(ACAT1):c.34G>A (p.Ala12Thr)	rs764674778	0.00005
NM_000019.4(ACAT1):c.1279C>A (p.Leu427Met)	rs201500937	0.00004
NM_000019.4(ACAT1):c.637G>A (p.Ala213Thr)	rs772087249	0.00004
NM_000019.4(ACAT1):c.770A>C (p.Lys257Thr)	rs370652435	0.00004
NM_000019.4(ACAT1):c.709C>A (p.Pro237Thr)	rs754478568	0.00003
NM_000019.4(ACAT1):c.967A>G (p.Ile323Val)	rs1282394804	0.00003
NM_000019.4(ACAT1):c.990A>G (p.Val330=)	rs764361167	0.00002
NM_000019.4(ACAT1):c.1199A>G (p.His400Arg)	rs761086326	0.00001
NM_000019.4(ACAT1):c.1200T>C (p.His400=)	rs748749897	0.00001
NM_000019.4(ACAT1):c.155T>C (p.Ile52Thr)	rs151080188	0.00001
NM_000019.4(ACAT1):c.171C>A (p.Gly57=)	rs757128075	0.00001
NM_000019.4(ACAT1):c.489G>T (p.Met163Ile)	rs778705529	0.00001
NM_000019.4(ACAT1):c.5C>T (p.Ala2Val)	rs915506786	0.00001
NM_000019.4(ACAT1):c.1200_1207del (p.His400fs)	rs1057520091
NM_000019.4(ACAT1):c.1277A>C (p.Lys426Thr)	rs2077742350
NM_000019.4(ACAT1):c.291A>T (p.Gly97=)	rs746216662
NM_000019.4(ACAT1):c.436G>A (p.Asp146Asn)	rs2077523952
NM_000019.4(ACAT1):c.483T>C (p.Tyr161=)	rs1591367485
NM_000019.4(ACAT1):c.71A>C (p.Gln24Pro)	rs2077152202
NM_000019.4(ACAT1):c.921A>G (p.Thr307=)	rs2077610591
NM_000019.4(ACAT1):c.983C>T (p.Ala328Val)	rs1057517702

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