ClinVar Miner

List of variants in gene MMACHC reported as likely benign for classic organic aciduria

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 73
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HGVS dbSNP
NM_015506.3(MMACHC):c.114C>T (p.Ala38=) rs372262322
NM_015506.3(MMACHC):c.126G>A (p.Pro42=) rs201112314
NM_015506.3(MMACHC):c.141C>G (p.Thr47=)
NM_015506.3(MMACHC):c.147C>T (p.Ala49=) rs1570829648
NM_015506.3(MMACHC):c.156A>G (p.Val52=)
NM_015506.3(MMACHC):c.159C>T (p.Leu53=)
NM_015506.3(MMACHC):c.165G>A (p.Thr55=) rs369883781
NM_015506.3(MMACHC):c.180C>T (p.Asp60=)
NM_015506.3(MMACHC):c.199T>C (p.Leu67=) rs1272042617
NM_015506.3(MMACHC):c.213C>T (p.His71=)
NM_015506.3(MMACHC):c.231C>T (p.Asp77=)
NM_015506.3(MMACHC):c.255C>T (p.Tyr85=)
NM_015506.3(MMACHC):c.258T>C (p.His86=)
NM_015506.3(MMACHC):c.270T>G (p.Val90=)
NM_015506.3(MMACHC):c.277-4C>A rs199889403
NM_015506.3(MMACHC):c.277-4C>G rs199889403
NM_015506.3(MMACHC):c.282C>T (p.Leu94=) rs751229877
NM_015506.3(MMACHC):c.315C>T (p.Tyr105=) rs528744719
NM_015506.3(MMACHC):c.326C>T (p.Pro109Leu) rs747214324
NM_015506.3(MMACHC):c.332G>A (p.Arg111Gln) rs200300254
NM_015506.3(MMACHC):c.33G>A (p.Lys11=) rs770446383
NM_015506.3(MMACHC):c.369A>T (p.Val123=)
NM_015506.3(MMACHC):c.402T>C (p.Asp134=) rs774024065
NM_015506.3(MMACHC):c.414C>T (p.Asp138=)
NM_015506.3(MMACHC):c.423G>A (p.Gly141=)
NM_015506.3(MMACHC):c.423G>C (p.Gly141=) rs1035201847
NM_015506.3(MMACHC):c.42C>T (p.Asp14=)
NM_015506.3(MMACHC):c.433A>T (p.Ile145Leu) rs74365027
NM_015506.3(MMACHC):c.458G>A (p.Arg153Gln) rs200276195
NM_015506.3(MMACHC):c.462T>C (p.Phe154=) rs199747998
NM_015506.3(MMACHC):c.477C>T (p.Ala159=) rs747698015
NM_015506.3(MMACHC):c.481C>A (p.Arg161=) rs370596113
NM_015506.3(MMACHC):c.48A>G (p.Leu16=)
NM_015506.3(MMACHC):c.495G>C (p.Leu165=)
NM_015506.3(MMACHC):c.564C>T (p.Asp188=)
NM_015506.3(MMACHC):c.570C>T (p.Ile190=)
NM_015506.3(MMACHC):c.574C>T (p.Leu192=)
NM_015506.3(MMACHC):c.579C>G (p.Leu193=)
NM_015506.3(MMACHC):c.603T>C (p.Arg201=) rs398124294
NM_015506.3(MMACHC):c.606T>C (p.Asp202=)
NM_015506.3(MMACHC):c.615C>T (p.Tyr205=)
NM_015506.3(MMACHC):c.627G>C (p.Val209=)
NM_015506.3(MMACHC):c.633C>T (p.Pro211=)
NM_015506.3(MMACHC):c.651A>G (p.Glu217=) rs948189041
NM_015506.3(MMACHC):c.678A>G (p.Pro226=)
NM_015506.3(MMACHC):c.691T>C (p.Leu231=) rs373198842
NM_015506.3(MMACHC):c.696C>T (p.Ala232=) rs767496391
NM_015506.3(MMACHC):c.699A>G (p.Leu233=) rs377439596
NM_015506.3(MMACHC):c.700T>C (p.Leu234=) rs199964843
NM_015506.3(MMACHC):c.726G>A (p.Lys242=)
NM_015506.3(MMACHC):c.729T>G (p.Pro243=)
NM_015506.3(MMACHC):c.72C>T (p.Tyr24=)
NM_015506.3(MMACHC):c.743C>G (p.Pro248Arg)
NM_015506.3(MMACHC):c.753C>T (p.Pro251=)
NM_015506.3(MMACHC):c.75C>A (p.Pro25=) rs749003802
NM_015506.3(MMACHC):c.762A>G (p.Thr254=)
NM_015506.3(MMACHC):c.765C>T (p.Pro255=) rs772078967
NM_015506.3(MMACHC):c.766_771del (p.Ala256_Pro257del) rs796064513
NM_015506.3(MMACHC):c.771C>G (p.Pro257=)
NM_015506.3(MMACHC):c.783G>A (p.Gly261=) rs776623221
NM_015506.3(MMACHC):c.798C>T (p.Ala266=) rs201813445
NM_015506.3(MMACHC):c.799C>T (p.Arg267Trp) rs34258482
NM_015506.3(MMACHC):c.801G>A (p.Arg267=)
NM_015506.3(MMACHC):c.804C>T (p.Ser268=)
NM_015506.3(MMACHC):c.81+10T>G
NM_015506.3(MMACHC):c.813C>T (p.Ser271=)
NM_015506.3(MMACHC):c.816C>A (p.Pro272=)
NM_015506.3(MMACHC):c.82-10T>C
NM_015506.3(MMACHC):c.821T>C (p.Val274Ala)
NM_015506.3(MMACHC):c.822C>A (p.Val274=) rs746114287
NM_015506.3(MMACHC):c.822C>G (p.Val274=)
NM_015506.3(MMACHC):c.828A>C (p.Pro276=)
NM_015506.3(MMACHC):c.828A>G (p.Pro276=)

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