ClinVar Miner

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

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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NM_015506.3(MMACHC):c.178G>C (p.Asp60His) rs6662272
NM_015506.3(MMACHC):c.276+214dup rs3215980
NM_015506.3(MMACHC):c.321G>A (p.Val107=) rs2275276
NM_015506.3(MMACHC):c.495G>A (p.Leu165=) rs761111018
NM_015506.3(MMACHC):c.738C>T (p.Pro246=) rs16832550
NM_015506.3(MMACHC):c.811A>G (p.Ser271Gly) rs35219601
NM_015506.3(MMACHC):c.848G>T (p.Ter283Leu) rs201025783

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