ClinVar Miner

List of variants in gene MICOS13 studied for combined oxidative phosphorylation deficiency

Included ClinVar conditions (81):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_205767.3(MICOS13):c.260-2A>G rs1064797230 0.00001
NM_205767.3(MICOS13):c.30-1G>A rs1568293849
NM_205767.3(MICOS13):c.44del (p.Gly15fs) rs1568293814

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