ClinVar Miner

List of variants studied for beta-ketothiolase deficiency by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 147
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HGVS dbSNP
NC_000011.10:g.(?_108121597)_(108147400_?)del
NC_000011.10:g.(?_108138888)_(108140225_?)del
NC_000011.10:g.(?_108147260)_(108147400_?)del
NC_000011.9:g.(?_107992324)_(107992415_?)del
NC_000011.9:g.(?_108004537)_(108005053_?)dup
NC_000011.9:g.(?_108009615)_(108009778_?)del
NM_000019.3(ACAT1):c.1006-10_1006-9ins171
NM_000019.4(ACAT1):c.1003A>G (p.Met335Val)
NM_000019.4(ACAT1):c.1006-1G>C rs1131691567
NM_000019.4(ACAT1):c.1026G>A (p.Leu342=)
NM_000019.4(ACAT1):c.1028A>G (p.Lys343Arg)
NM_000019.4(ACAT1):c.1032AGA[1] (p.Glu345del) rs387906282
NM_000019.4(ACAT1):c.1049G>A (p.Trp350Ter)
NM_000019.4(ACAT1):c.1068T>C (p.Phe356=) rs139657823
NM_000019.4(ACAT1):c.1099T>C (p.Leu367=)
NM_000019.4(ACAT1):c.1100T>A (p.Leu367Ter)
NM_000019.4(ACAT1):c.1101G>A (p.Leu367=)
NM_000019.4(ACAT1):c.1105A>G (p.Ile369Val) rs1591374695
NM_000019.4(ACAT1):c.1124A>G (p.Asn375Ser) rs373771053
NM_000019.4(ACAT1):c.1128C>T (p.Ile376=)
NM_000019.4(ACAT1):c.1131T>C (p.Asn377=)
NM_000019.4(ACAT1):c.1136G>T (p.Gly379Val) rs120074143
NM_000019.4(ACAT1):c.1147C>T (p.Leu383=)
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.1190A>G (p.His397Arg)
NM_000019.4(ACAT1):c.1198C>T (p.His400Tyr) rs201183545
NM_000019.4(ACAT1):c.1199A>G (p.His400Arg) rs761086326
NM_000019.4(ACAT1):c.1200T>C (p.His400=)
NM_000019.4(ACAT1):c.1209G>A (p.Lys403=)
NM_000019.4(ACAT1):c.1217A>G (p.Glu406Gly) rs147872303
NM_000019.4(ACAT1):c.1221C>T (p.Tyr407=) rs367713788
NM_000019.4(ACAT1):c.1253G>A (p.Gly418Asp) rs886042080
NM_000019.4(ACAT1):c.1253_1255dup (p.Gly418dup)
NM_000019.4(ACAT1):c.126G>T (p.Val42=)
NM_000019.4(ACAT1):c.1279C>A (p.Leu427Met)
NM_000019.4(ACAT1):c.1281G>A (p.Leu427=)
NM_000019.4(ACAT1):c.138T>C (p.Ser46=)
NM_000019.4(ACAT1):c.13G>C (p.Ala5Pro) rs3741056
NM_000019.4(ACAT1):c.140C>T (p.Ala47Val)
NM_000019.4(ACAT1):c.155T>C (p.Ile52Thr)
NM_000019.4(ACAT1):c.163_167delinsAA (p.Phe55_Leu56delinsLys) rs1591361995
NM_000019.4(ACAT1):c.171C>A (p.Gly57=)
NM_000019.4(ACAT1):c.177T>G (p.Leu59=)
NM_000019.4(ACAT1):c.192C>T (p.Ala64=)
NM_000019.4(ACAT1):c.225C>T (p.Ala75=)
NM_000019.4(ACAT1):c.229del (p.Glu77fs)
NM_000019.4(ACAT1):c.22C>T (p.Leu8=)
NM_000019.4(ACAT1):c.233del (p.Lys78fs)
NM_000019.4(ACAT1):c.238+17C>T
NM_000019.4(ACAT1):c.238+8G>T
NM_000019.4(ACAT1):c.239-6dup
NM_000019.4(ACAT1):c.239-8T>A rs202030208
NM_000019.4(ACAT1):c.248AAG[2] (p.Glu85del) rs866364527
NM_000019.4(ACAT1):c.261dup (p.Glu88fs)
NM_000019.4(ACAT1):c.264A>G (p.Glu88=)
NM_000019.4(ACAT1):c.267A>C (p.Ala89=)
NM_000019.4(ACAT1):c.267A>G (p.Ala89=)
NM_000019.4(ACAT1):c.274G>A (p.Gly92Ser) rs1591362402
NM_000019.4(ACAT1):c.291A>C (p.Gly97=)
NM_000019.4(ACAT1):c.2T>C (p.Met1Thr) rs120074142
NM_000019.4(ACAT1):c.312A>G (p.Thr104=)
NM_000019.4(ACAT1):c.325T>C (p.Leu109=)
NM_000019.4(ACAT1):c.330T>C (p.Gly110=)
NM_000019.4(ACAT1):c.334+8G>A
NM_000019.4(ACAT1):c.34G>A (p.Ala12Thr)
NM_000019.4(ACAT1):c.354A>G (p.Pro118=)
NM_000019.4(ACAT1):c.360C>T (p.Thr120=)
NM_000019.4(ACAT1):c.36C>G (p.Ala12=)
NM_000019.4(ACAT1):c.36C>T (p.Ala12=)
NM_000019.4(ACAT1):c.375T>C (p.Val125=)
NM_000019.4(ACAT1):c.378T>C (p.Cys126=)
NM_000019.4(ACAT1):c.384A>G (p.Ser128=) rs374439037
NM_000019.4(ACAT1):c.414_415del (p.Leu140fs) rs1591363800
NM_000019.4(ACAT1):c.418C>T (p.Leu140Phe)
NM_000019.4(ACAT1):c.42C>T (p.Ser14=)
NM_000019.4(ACAT1):c.433C>G (p.Gln145Glu) rs120074148
NM_000019.4(ACAT1):c.436-4G>A rs3741050
NM_000019.4(ACAT1):c.436-4G>C rs3741050
NM_000019.4(ACAT1):c.436-5C>T rs369472868
NM_000019.4(ACAT1):c.436-7T>C rs775534544
NM_000019.4(ACAT1):c.436-8C>T
NM_000019.4(ACAT1):c.438T>C (p.Asp146=)
NM_000019.4(ACAT1):c.444_445del (p.Met148fs) rs727503795
NM_000019.4(ACAT1):c.471C>A (p.Ser157=) rs35188041
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.480A>G (p.Pro160=) rs141131039
NM_000019.4(ACAT1):c.483T>C (p.Tyr161=) rs1591367485
NM_000019.4(ACAT1):c.502A>G (p.Thr168Ala)
NM_000019.4(ACAT1):c.507A>T (p.Pro169=) rs201456540
NM_000019.4(ACAT1):c.513T>C (p.Gly171=)
NM_000019.4(ACAT1):c.52dup (p.Leu18fs) rs1476273214
NM_000019.4(ACAT1):c.532T>C (p.Leu178=) rs370063325
NM_000019.4(ACAT1):c.546C>T (p.Asp182=)
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.580-5dup
NM_000019.4(ACAT1):c.580-7T>C rs565210496
NM_000019.4(ACAT1):c.5C>T (p.Ala2Val)
NM_000019.4(ACAT1):c.603A>G (p.Ala201=) rs1591368730
NM_000019.4(ACAT1):c.60G>C (p.Arg20=) rs77311724
NM_000019.4(ACAT1):c.622C>A (p.Arg208=) rs532190594
NM_000019.4(ACAT1):c.622C>G (p.Arg208Gly) rs532190594
NM_000019.4(ACAT1):c.622C>T (p.Arg208Ter) rs532190594
NM_000019.4(ACAT1):c.627T>C (p.Asn209=)
NM_000019.4(ACAT1):c.636C>T (p.Asp212=)
NM_000019.4(ACAT1):c.642T>C (p.Tyr214=)
NM_000019.4(ACAT1):c.642T>G (p.Tyr214Ter)
NM_000019.4(ACAT1):c.64_72+10del
NM_000019.4(ACAT1):c.666T>C (p.Ser222=)
NM_000019.4(ACAT1):c.684T>C (p.Ala228=)
NM_000019.4(ACAT1):c.687G>A (p.Gly229=) rs545578010
NM_000019.4(ACAT1):c.709C>A (p.Pro237Thr)
NM_000019.4(ACAT1):c.72+10G>T
NM_000019.4(ACAT1):c.731-6T>C
NM_000019.4(ACAT1):c.738A>G (p.Pro246=)
NM_000019.4(ACAT1):c.749del (p.Val250fs)
NM_000019.4(ACAT1):c.759T>C (p.Asp253=)
NM_000019.4(ACAT1):c.770A>C (p.Lys257Thr) rs370652435
NM_000019.4(ACAT1):c.772C>T (p.Arg258Cys) rs753816946
NM_000019.4(ACAT1):c.777T>C (p.Val259=)
NM_000019.4(ACAT1):c.810T>C (p.Val270=)
NM_000019.4(ACAT1):c.814C>T (p.Gln272Ter) rs120074144
NM_000019.4(ACAT1):c.816G>T (p.Gln272His)
NM_000019.4(ACAT1):c.826+1G>T rs727503796
NM_000019.4(ACAT1):c.831A>G (p.Thr277=)
NM_000019.4(ACAT1):c.846T>C (p.Asn282=)
NM_000019.4(ACAT1):c.84T>C (p.Tyr28=)
NM_000019.4(ACAT1):c.854C>T (p.Thr285Ile) rs1239221388
NM_000019.4(ACAT1):c.858G>A (p.Leu286=)
NM_000019.4(ACAT1):c.864T>C (p.Asp288=)
NM_000019.4(ACAT1):c.867A>C (p.Gly289=)
NM_000019.4(ACAT1):c.903G>A (p.Ala301=) rs75811190
NM_000019.4(ACAT1):c.918T>A (p.Val306=) rs200318899
NM_000019.4(ACAT1):c.935T>C (p.Ile312Thr) rs120074146
NM_000019.4(ACAT1):c.940+2T>C
NM_000019.4(ACAT1):c.941-9T>G
NM_000019.4(ACAT1):c.949G>A (p.Asp317Asn) rs780486838
NM_000019.4(ACAT1):c.967A>G (p.Ile323Val) rs1282394804
NM_000019.4(ACAT1):c.978A>C (p.Pro326=) rs73559264
NM_000019.4(ACAT1):c.979A>G (p.Ile327Val) rs150038447
NM_000019.4(ACAT1):c.996T>C (p.Ala332=)
NM_000019.4(ACAT1):c.997G>C (p.Ala333Pro) rs120074147

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