ClinVar Miner

List of variants reported as pathogenic for beta-ketothiolase deficiency by Invitae

Included ClinVar conditions (1):
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Minimum conflict level:
ClinVar version:
Total variants: 31
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HGVS dbSNP
NC_000011.10:g.(?_108121597)_(108147400_?)del
NC_000011.10:g.(?_108138888)_(108140225_?)del
NC_000011.9:g.(?_107992324)_(107992415_?)del
NM_000019.4(ACAT1):c.1006-1G>C rs1131691567
NM_000019.4(ACAT1):c.1049G>A (p.Trp350Ter)
NM_000019.4(ACAT1):c.1100T>A (p.Leu367Ter)
NM_000019.4(ACAT1):c.1124A>G (p.Asn375Ser) rs373771053
NM_000019.4(ACAT1):c.1163+1G>A
NM_000019.4(ACAT1):c.1173dup (p.Ala392fs)
NM_000019.4(ACAT1):c.1181_1211dup (p.Gln404fs)
NM_000019.4(ACAT1):c.229del (p.Glu77fs)
NM_000019.4(ACAT1):c.233del (p.Lys78fs)
NM_000019.4(ACAT1):c.261dup (p.Glu88fs)
NM_000019.4(ACAT1):c.2T>C (p.Met1Thr) rs120074142
NM_000019.4(ACAT1):c.414_415del (p.Leu140fs) rs1591363800
NM_000019.4(ACAT1):c.444_445del (p.Met148fs) rs727503795
NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp) rs148639841
NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser) rs199524907
NM_000019.4(ACAT1):c.52dup (p.Leu18fs) rs1476273214
NM_000019.4(ACAT1):c.547G>A (p.Gly183Arg) rs120074141
NM_000019.4(ACAT1):c.571del (p.Ile191fs)
NM_000019.4(ACAT1):c.578T>C (p.Met193Thr) rs541517496
NM_000019.4(ACAT1):c.578T>G (p.Met193Arg) rs541517496
NM_000019.4(ACAT1):c.622C>T (p.Arg208Ter) rs532190594
NM_000019.4(ACAT1):c.642T>G (p.Tyr214Ter)
NM_000019.4(ACAT1):c.749del (p.Val250fs)
NM_000019.4(ACAT1):c.814C>T (p.Gln272Ter) rs120074144
NM_000019.4(ACAT1):c.826+1G>T rs727503796
NM_000019.4(ACAT1):c.935T>C (p.Ile312Thr) rs120074146
NM_000019.4(ACAT1):c.949G>A (p.Asp317Asn) rs780486838
NM_000019.4(ACAT1):c.997G>C (p.Ala333Pro) rs120074147

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