ClinVar Miner

List of variants in gene MTO1 reported as benign for combined oxidative phosphorylation deficiency

Included ClinVar conditions (79):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_012123.4(MTO1):c.1180T>C (p.Leu394=) rs2036039 0.20359
NM_012123.4(MTO1):c.1918-7T>G rs73452515 0.04248
NM_012123.4(MTO1):c.1894C>T (p.Leu632=) rs117757245 0.00506
NM_012123.4(MTO1):c.1368T>C (p.Thr456=) rs115654622 0.00454
NM_012123.4(MTO1):c.1086C>G (p.Ile362Met) rs147329295 0.00309
NM_012123.4(MTO1):c.176G>C (p.Gly59Ala) rs201279883 0.00085
NM_012123.4(MTO1):c.1637+16A>G rs201990339 0.00034
NM_012123.4(MTO1):c.1059A>G (p.Leu353=) rs201656868
NM_012123.4(MTO1):c.1917+17_1917+19del rs760158320
NM_012123.4(MTO1):c.938+7= rs7766570

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