List of variants reported as likely pathogenic for mitochondrial trifunctional protein deficiency 2 by Fulgent Genetics, Fulgent Genetics

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000183.3(HADHB):c.397A>G (p.Thr133Ala)	rs371159065	0.00006
NM_000183.3(HADHB):c.1289T>C (p.Phe430Ser)	rs375329638	0.00004
NM_000183.3(HADHB):c.901G>A (p.Gly301Ser)	rs891954464	0.00001
NM_000183.3(HADHB):c.65-1G>C
NM_000183.3(HADHB):c.686G>A (p.Arg229Gln)	rs375654005
NM_000183.3(HADHB):c.725A>G (p.Asp242Gly)
NM_000183.3(HADHB):c.811+1G>A

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