RS121918248 MMUT

Health Risk Chr 6:49459414 snv stop gained
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What This Variant Does
"[OMIM:?]
Associated Conditions
METHYLMALONIC ACIDURIA
mut(0) TYPE
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Methylmalonic acidemia
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
METHYLMALONIC ACIDURIA
mut(0) TYPE
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Methylmalonic acidemia
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
Population Frequencies
gnomAD ALL
0%
Other Variants in MMUT
rs121918249 rs121918250 rs121918251 rs121918252 rs121918253 rs2127419920 rs121918254 rs121918255 rs121918256 rs121918257
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