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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_012123.4(MTO1):c.1201C>T (p.Arg401Ter)	rs775623164	0.00004
NM_012123.4(MTO1):c.1450C>T (p.Arg484Trp)	rs748152539	0.00004
NM_012123.4(MTO1):c.1282G>A (p.Ala428Thr)	rs143747297	0.00003
NM_012123.4(MTO1):c.1325G>A (p.Arg442Gln)	rs765548847	0.00002
NM_012123.4(MTO1):c.1390C>T (p.Arg464Cys)	rs1459252796	0.00002
NM_012123.4(MTO1):c.1261-5T>G	rs1275100093	0.00001
NM_012123.4(MTO1):c.417+2T>C	rs1030161382	0.00001
NM_012123.4(MTO1):c.938G>A (p.Arg313Gln)	rs371179032	0.00001
NC_000006.11:g.(?_74183068)_(74183397_?)dup
NC_000006.11:g.(?_74191743)_(74192363_?)dup
NM_012123.4(MTO1):c.1391G>T (p.Arg464Leu)	rs141970072
NM_012123.4(MTO1):c.1429C>T (p.Arg477Cys)	rs1033653237
NM_012123.4(MTO1):c.153_174del (p.Thr53fs)	rs1770832882
NM_012123.4(MTO1):c.1756+2T>C
NM_012123.4(MTO1):c.344del (p.Asn115fs)	rs1297994959
NM_012123.4(MTO1):c.535+1G>A
NM_012123.4(MTO1):c.89_90dup (p.Ala31fs)
NM_012123.4(MTO1):c.963A>C (p.Lys321Asn)	rs1554148965

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