List of variants studied for Mitochondrial trifunctional protein deficiency 2

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Total variants: 25

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HGVS	dbSNP	gnomAD frequency
NM_000183.3(HADHB):c.966G>A (p.Ala322=)	rs7572240	0.02064
NM_000183.3(HADHB):c.830A>G (p.Lys277Arg)	rs57969630	0.00662
NM_000183.3(HADHB):c.780C>T (p.Leu260=)	rs7607527	0.00660
NM_000183.3(HADHB):c.891C>T (p.Ile297=)	rs56902571	0.00660
NM_000183.3(HADHB):c.584G>A (p.Arg195Gln)	rs764507324	0.00007
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.493G>A (p.Val165Ile)	rs766573917	0.00001
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.1059del (p.Gly354fs)	rs796051974
NM_000183.3(HADHB):c.110-2353C>T
NM_000183.3(HADHB):c.1174_1176del (p.Ala392del)
NM_000183.3(HADHB):c.1252A>G (p.Asn418Asp)
NM_000183.3(HADHB):c.1331G>A (p.Arg444Lys)	rs121913134
NM_000183.3(HADHB):c.1390-515_1390-499del
NM_000183.3(HADHB):c.1399A>C (p.Met467Leu)
NM_000183.3(HADHB):c.341A>G (p.Asn114Ser)
NM_000183.3(HADHB):c.357dup (p.Ala120fs)	rs886037844
NM_000183.3(HADHB):c.527C>G (p.Ser176Ter)	rs951478194
NM_000183.3(HADHB):c.631-1G>A	rs1553322031
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
NM_000183.3(HADHB):c.812-5A>T	rs72851534

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