ClinVar Miner

List of variants studied for classic organic aciduria by Neurology Department,Peking University First Hospital

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_015506.2(MMACHC):c.271dupA rs398124292
NM_015506.2(MMACHC):c.482G>A rs121918243
NM_015506.3(MMACHC):c.217C>T (p.Arg73Ter) rs796051995
NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro) rs121918240
NM_015506.3(MMACHC):c.445_446del (p.Cys149fs) rs796051999
NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter) rs587776889
NM_015506.3(MMACHC):c.658_660del (p.Lys220del) rs398124296

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