ClinVar Miner

List of variants in gene combination HTRA2, LOXL3 reported as pathogenic for classic organic aciduria

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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NM_013247.4(HTRA2):c.1211G>A (p.Arg404Gln) rs767006508
NM_013247.4(HTRA2):c.1316_1320del (p.Val439fs) rs1057519080

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