List of variants reported as likely pathogenic for Mitochondrial trifunctional protein deficiency by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000183.3(HADHB):c.1289T>C (p.Phe430Ser)	rs375329638	0.00004
NM_000183.3(HADHB):c.255-2A>G	rs1220650950	0.00001
NM_000183.3(HADHB):c.583C>T (p.Arg195Ter)	rs552292698	0.00001
NC_000002.11:g.(26467859_26477114)_(26477343_26486247)del
NM_000182.5(HADHA):c.180+1G>A	rs786205088
NM_000182.5(HADHA):c.1981_1999del (p.Leu661fs)	rs749848370
NM_000182.5(HADHA):c.2225_2228dup (p.Phe744fs)	rs868816467
NM_000183.3(HADHB):c.811+1G>A

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