List of variants reported as pathogenic for Mitochondrial trifunctional protein deficiency 1 by Baylor Genetics

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000183.3(HADHB):c.182G>A (p.Arg61His)	rs121913132	0.00005
NM_000183.3(HADHB):c.210-1G>T	rs200777054	0.00002
NM_000183.3(HADHB):c.97C>T (p.Arg33Ter)	rs752264795	0.00002
NM_000183.3(HADHB):c.254+1G>A	rs776172237	0.00001
NM_000183.3(HADHB):c.1137del (p.His379fs)
NM_000183.3(HADHB):c.340A>G (p.Asn114Asp)
NM_000183.3(HADHB):c.631-1G>A	rs1553322031
NM_000183.3(HADHB):c.739C>T (p.Arg247Cys)

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