List of variants studied for Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

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Total variants: 9

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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.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.1261-5T>G	rs1275100093	0.00001
NM_012123.4(MTO1):c.938G>A (p.Arg313Gln)	rs371179032	0.00001
NM_012123.4(MTO1):c.1222A>T (p.Ile408Phe)
NM_012123.4(MTO1):c.1429C>T (p.Arg477Cys)	rs1033653237
NM_012123.4(MTO1):c.963A>C (p.Lys321Asn)	rs1554148965

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