| Gene symbol |
Gene name |
Total variants |
Unique variants |
| LMBRD1 |
LMBR1 domain containing 1 |
73 |
63 |
| MCEE |
methylmalonyl CoA epimerase |
20 |
17 |
| MMAA |
Methylmalonic Aciduria (cobalamin deficiency) cblA type |
109 |
58 |
| MMAB |
methylmalonic aciduria (cobalamin deficiency) cblB type |
127 |
79 |
| MMACHC |
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuri |
375 |
77 |
| MMADHC |
methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuri |
54 |
47 |
| MTR |
5-methyltetrahydrofolate-homocysteine methyltransferase |
222 |
183 |
| MTRR |
5-methyltetrahydrofolate-homocysteine methyltransferase reductase |
161 |
120 |
| MUT |
methylmalonyl Coenzyme A mutase |
640 |
313 |
| |
Total of 9 gene entries |
1781 |
957 |
