List of variants reported as pathogenic for Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency by OMIM

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_012123.4(MTO1):c.1430G>A (p.Arg477His)	rs201544686	0.00028
NM_012123.4(MTO1):c.1282G>A (p.Ala428Thr)	rs143747297	0.00003
NM_012123.4(MTO1):c.1232C>T (p.Thr411Ile)	rs398122419
NM_012123.4(MTO1):c.1858dup (p.Arg620fs)	rs397518449

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