List of variants reported as likely pathogenic for Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_012123.4(MTO1):c.1390C>T (p.Arg464Cys)	rs1459252796	0.00002
NM_012123.4(MTO1):c.417+2T>C	rs1030161382	0.00001
NC_000006.11:g.(?_74183068)_(74183397_?)dup
NC_000006.11:g.(?_74191743)_(74192363_?)dup
NM_012123.4(MTO1):c.1756+2T>C
NM_012123.4(MTO1):c.535+1G>A

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