List of variants reported as pathogenic for Mitochondrial trifunctional protein deficiency 2

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000183.3(HADHB):c.712C>T (p.Arg238Trp)	rs764006338	0.00006
NM_000183.3(HADHB):c.182G>A (p.Arg61His)	rs121913132	0.00005
NM_000183.3(HADHB):c.740G>A (p.Arg247His)	rs121913133	0.00001
NC_000002.11:g.(26477343_26486247)_(26486348_26492820)del
NM_000183.3(HADHB):c.1331G>A (p.Arg444Lys)	rs121913134
NM_000183.3(HADHB):c.357dup (p.Ala120fs)	rs886037844
NM_000183.3(HADHB):c.685C>T (p.Arg229Ter)	rs759136382
NM_000183.3(HADHB):c.776_777insT (p.Leu260fs)
NM_000183.3(HADHB):c.788A>G (p.Asp263Gly)	rs121913131

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