ClinVar Miner

List of variants studied for classic organic aciduria by Department of Pediatrics, Gifu University

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 106
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HGVS dbSNP
NG_009888.2:g.20624_29833delinsTAA
NM_000019.3:c.(120+1_121-1)_(344+1_345-1)del
NM_000019.3:c.(72+1_73-1)_(344+1_345-1)del
NM_000019.3:c.(72+1_73-1)_(435+1_436-1)del
NM_000019.3:c.(730+1_731-1)_(940+1_941-1)dup
NM_000019.4(ACAT1):c.1006-1G>A
NM_000019.4(ACAT1):c.1006-1G>C rs1131691567
NM_000019.4(ACAT1):c.1006-2A>C rs145229472
NM_000019.4(ACAT1):c.1013_1016dup (p.Asp339fs)
NM_000019.4(ACAT1):c.1016_1018dup (p.Asp339dup)
NM_000019.4(ACAT1):c.1032_1034AGA[1] (p.Glu345del) rs387906282
NM_000019.4(ACAT1):c.1032dup (p.Glu345fs)
NM_000019.4(ACAT1):c.1033_1034del (p.Glu345fs) rs781496140
NM_000019.4(ACAT1):c.1040T>C (p.Ile347Thr)
NM_000019.4(ACAT1):c.1059T>A (p.Asn353Lys)
NM_000019.4(ACAT1):c.1059T>G (p.Asn353Lys)
NM_000019.4(ACAT1):c.1061A>T (p.Glu354Val)
NM_000019.4(ACAT1):c.1083dup (p.Ala362fs) rs387906283
NM_000019.4(ACAT1):c.1124A>G (p.Asn375Ser)
NM_000019.4(ACAT1):c.1136G>T (p.Gly379Val) rs120074143
NM_000019.4(ACAT1):c.1138G>A (p.Ala380Thr) rs120074140
NM_000019.4(ACAT1):c.1160T>C (p.Ile387Thr) rs748303093
NM_000019.4(ACAT1):c.1163+2T>C rs1280110907
NM_000019.4(ACAT1):c.1163G>A (p.Gly388Glu)
NM_000019.4(ACAT1):c.1167G>A (p.Met389Ile)
NM_000019.4(ACAT1):c.1168T>C (p.Ser390Pro)
NM_000019.4(ACAT1):c.1189C>G (p.His397Asp)
NM_000019.4(ACAT1):c.121-13T>A
NM_000019.4(ACAT1):c.121-3C>G
NM_000019.4(ACAT1):c.1223_1226dup (p.Ala410fs)
NM_000019.4(ACAT1):c.1229C>T (p.Ala410Val) rs767412638
NM_000019.4(ACAT1):c.1241_1245delinsGT (p.Asn414_Gly415delinsSer)
NM_000019.4(ACAT1):c.1253G>A (p.Gly418Asp) rs886042080
NM_000019.4(ACAT1):c.149del (p.Thr50fs) rs779565865
NM_000019.4(ACAT1):c.163_167delinsAA (p.Phe55_Leu56delinsLys)
NM_000019.4(ACAT1):c.1A>G (p.Met1Val)
NM_000019.4(ACAT1):c.218A>C (p.Gln73Pro)
NM_000019.4(ACAT1):c.248_250AAG[2] (p.Glu85del)
NM_000019.4(ACAT1):c.278A>G (p.Asn93Ser) rs120074145
NM_000019.4(ACAT1):c.286C>T (p.Gln96Ter)
NM_000019.4(ACAT1):c.299G>A (p.Gly100Glu)
NM_000019.4(ACAT1):c.2T>A (p.Met1Lys) rs120074142
NM_000019.4(ACAT1):c.2T>C (p.Met1Thr)
NM_000019.4(ACAT1):c.301C>A (p.Gln101Lys)
NM_000019.4(ACAT1):c.334+1G>A
NM_000019.4(ACAT1):c.354_355delinsG (p.Cys119fs)
NM_000019.4(ACAT1):c.370A>G (p.Lys124Glu)
NM_000019.4(ACAT1):c.371A>G (p.Lys124Arg)
NM_000019.4(ACAT1):c.377G>C (p.Cys126Ser)
NM_000019.4(ACAT1):c.380C>T (p.Ala127Val)
NM_000019.4(ACAT1):c.395C>G (p.Ala132Gly)
NM_000019.4(ACAT1):c.414_415del (p.Leu140fs)
NM_000019.4(ACAT1):c.431A>C (p.His144Pro)
NM_000019.4(ACAT1):c.433C>G (p.Gln145Glu) rs120074148
NM_000019.4(ACAT1):c.435+1G>A
NM_000019.4(ACAT1):c.446del (p.Val149fs)
NM_000019.4(ACAT1):c.455G>C (p.Gly152Ala) rs762991875
NM_000019.4(ACAT1):c.460G>A (p.Glu154Lys)
NM_000019.4(ACAT1):c.462_482delinsTCCTC (p.Glu154fs)
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.534G>T (p.Leu178Phe)
NM_000019.4(ACAT1):c.547G>A (p.Gly183Arg) rs120074141
NM_000019.4(ACAT1):c.556G>T (p.Asp186Tyr)
NM_000019.4(ACAT1):c.578T>C (p.Met193Thr)
NM_000019.4(ACAT1):c.578T>G (p.Met193Arg)
NM_000019.4(ACAT1):c.602C>T (p.Ala201Val)
NM_000019.4(ACAT1):c.622C>T (p.Arg208Ter) rs532190594
NM_000019.4(ACAT1):c.623G>A (p.Arg208Gln) rs370720208
NM_000019.4(ACAT1):c.643_644delinsAA (p.Ala215Asn)
NM_000019.4(ACAT1):c.653C>T (p.Ser218Phe) rs879255505
NM_000019.4(ACAT1):c.655T>C (p.Tyr219His)
NM_000019.4(ACAT1):c.664A>C (p.Ser222Arg)
NM_000019.4(ACAT1):c.674C>A (p.Ala225Glu)
NM_000019.4(ACAT1):c.730+1G>A
NM_000019.4(ACAT1):c.731-46_752del
NM_000019.4(ACAT1):c.753_755AGA[1] (p.Glu252del)
NM_000019.4(ACAT1):c.754_755insCT (p.Glu252fs)
NM_000019.4(ACAT1):c.759T>A (p.Asp253Glu)
NM_000019.4(ACAT1):c.760G>A (p.Glu254Lys)
NM_000019.4(ACAT1):c.764A>C (p.Glu255Ala)
NM_000019.4(ACAT1):c.765A>T (p.Glu255Asp) rs794727893
NM_000019.4(ACAT1):c.79A>T (p.Arg27Ter)
NM_000019.4(ACAT1):c.814C>T (p.Gln272Ter) rs120074144
NM_000019.4(ACAT1):c.81_82AT[1] (p.Tyr28fs)
NM_000019.4(ACAT1):c.826+1G>T rs727503796
NM_000019.4(ACAT1):c.826+5G>T
NM_000019.4(ACAT1):c.826+5_826+9del
NM_000019.4(ACAT1):c.829A>C (p.Thr277Pro)
NM_000019.4(ACAT1):c.844A>C (p.Asn282His)
NM_000019.4(ACAT1):c.84_85TG[3] (p.Glu30fs)
NM_000019.4(ACAT1):c.851G>A (p.Ser284Asn)
NM_000019.4(ACAT1):c.854C>T (p.Thr285Ile)
NM_000019.4(ACAT1):c.890C>A (p.Thr297Lys)
NM_000019.4(ACAT1):c.890C>T (p.Thr297Met) rs886041122
NM_000019.4(ACAT1):c.901G>C (p.Ala301Pro)
NM_000019.4(ACAT1):c.935T>C (p.Ile312Thr) rs120074146
NM_000019.4(ACAT1):c.940+1G>T
NM_000019.4(ACAT1):c.941-9T>A
NM_000019.4(ACAT1):c.947_949dup (p.Ala316dup)
NM_000019.4(ACAT1):c.949G>A (p.Asp317Asn)
NM_000019.4(ACAT1):c.951C>T (p.Asp317=)
NM_000019.4(ACAT1):c.968T>C (p.Ile323Thr)
NM_000019.4(ACAT1):c.997G>C (p.Ala333Pro) rs120074147
NM_000019.4(ACAT1):c.99T>A (p.Tyr33Ter)

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