ClinVar Miner

List of variants reported as pathogenic 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: 44
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HGVS dbSNP
NC_000011.10:g.108121607A>G
NC_000011.10:g.108121608T>C
NC_000011.10:g.108131913A>T
NC_000011.10:g.108131915_108131916AT[1]
NC_000011.10:g.108131918_108131919TG[3]
NC_000011.10:g.108131933T>A
NC_000011.10:g.108134268C>T
NC_000011.10:g.108135161_108135162delinsG
NC_000011.10:g.108135187C>T
NC_000011.10:g.108135221_108135222del
NC_000011.10:g.108138908del
NC_000011.10:g.108138924_108138944delinsTCCTC
NC_000011.10:g.108141628_108141629insCT
NC_000011.10:g.108143991G>A
NC_000011.10:g.108143993C>T
NC_000011.10:g.108146209_108146212dup
NC_000011.10:g.108146228dup
NC_000011.10:g.108146320A>G
NC_000011.10:g.108146359G>A
NC_000011.10:g.108147329_108147332dup
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.1033_1034del (p.Glu345fs) rs781496140
NM_000019.4(ACAT1):c.1083dup (p.Ala362fs) rs387906283
NM_000019.4(ACAT1):c.1163+2T>C rs1280110907
NM_000019.4(ACAT1):c.121-13T>A
NM_000019.4(ACAT1):c.149del (p.Thr50fs) rs779565865
NM_000019.4(ACAT1):c.2T>A (p.Met1Lys) rs120074142
NM_000019.4(ACAT1):c.334+1G>A
NM_000019.4(ACAT1):c.435+1G>A
NM_000019.4(ACAT1):c.52dup (p.Leu18fs) rs1476273214
NM_000019.4(ACAT1):c.622C>T (p.Arg208Ter) rs532190594
NM_000019.4(ACAT1):c.730+1G>A
NM_000019.4(ACAT1):c.731-46_752del
NM_000019.4(ACAT1):c.814C>T (p.Gln272Ter) rs120074144
NM_000019.4(ACAT1):c.826+1G>T rs727503796
NM_000019.4(ACAT1):c.940+1G>T
NM_000019.4(ACAT1):c.941-9T>A

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