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

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Total variants: 13

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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.607C>T (p.Arg203Ter)	rs534616210	0.00002
NM_000183.3(HADHB):c.1165A>G (p.Asn389Asp)	rs1023807527	0.00001
NM_000183.3(HADHB):c.1390-2A>G	rs1297095534	0.00001
NM_000183.3(HADHB):c.181C>T (p.Arg61Cys)	rs780351691	0.00001
NM_000183.3(HADHB):c.184A>G (p.Thr62Ala)	rs768738452	0.00001
NM_000183.3(HADHB):c.693_696dup (p.Ala233fs)	rs745646607	0.00001
NM_000183.3(HADHB):c.740G>A (p.Arg247His)	rs121913133	0.00001
NM_000183.3(HADHB):c.933+1G>T	rs1672723966	0.00001
NM_000183.3(HADHB):c.1259G>A (p.Trp420Ter)	rs2465738798
NM_000183.3(HADHB):c.1389+5G>A	rs1156245096
NM_000183.3(HADHB):c.527C>G (p.Ser176Ter)	rs951478194
NM_000183.3(HADHB):c.686G>A (p.Arg229Gln)	rs375654005

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