ClinVar Miner

List of variants reported as likely pathogenic for Combined oxidative phosphorylation deficiency 10

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Total variants: 11
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HGVS dbSNP
NM_012123.4(MTO1):c.1201C>T (p.Arg401Ter)
NM_012123.4(MTO1):c.1261-5T>G rs1275100093
NM_012123.4(MTO1):c.1325G>A (p.Arg442Gln) rs765548847
NM_012123.4(MTO1):c.1390C>T (p.Arg464Cys)
NM_012123.4(MTO1):c.1429C>T (p.Arg477Cys) rs1033653237
NM_012123.4(MTO1):c.1430G>A (p.Arg477His) rs201544686
NM_012123.4(MTO1):c.153_174del (p.Thr53fs)
NM_012123.4(MTO1):c.344del (p.Asn115fs)
NM_012123.4(MTO1):c.417+2T>C
NM_012123.4(MTO1):c.938G>A (p.Arg313Gln) rs371179032
NM_012123.4(MTO1):c.963A>C (p.Lys321Asn) rs1554148965

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