List of variants in gene MIPEP 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: 9

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HGVS	dbSNP	gnomAD frequency
NM_005932.4(MIPEP):c.1534C>G (p.His512Asp)	rs779598020	0.00006
NM_005932.4(MIPEP):c.358G>A (p.Asp120Asn)	rs780533096	0.00001
NM_005932.4(MIPEP):c.786+1G>C	rs1408067328	0.00001
NM_005932.4(MIPEP):c.1259T>C (p.Leu420Pro)	rs1869287041
NM_005932.4(MIPEP):c.1756_1771del (p.Tyr586fs)
NM_005932.4(MIPEP):c.1848+2T>G
NM_005932.4(MIPEP):c.1854G>A (p.Trp618Ter)
NM_005932.4(MIPEP):c.541C>T (p.Arg181Ter)	rs866158774
NM_005932.4(MIPEP):c.890G>C (p.Gly297Ala)

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