List of variants reported as benign for Mitochondrial trifunctional protein deficiency by Invitae

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000183.3(HADHB):c.825T>C (p.Val275=)	rs1056389	0.17317
NM_000183.3(HADHB):c.1014-14A>G	rs17528590	0.17198
NM_000183.3(HADHB):c.1149+4A>T	rs2303893	0.08727
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.64+11T>C	rs57709136	0.00141
NM_000183.3(HADHB):c.246A>G (p.Ala82=)	rs151302743	0.00070
NM_000183.3(HADHB):c.900C>T (p.Tyr300=)	rs144093705	0.00065
NM_000183.3(HADHB):c.135G>A (p.Thr45=)	rs574464531	0.00003
NM_000183.3(HADHB):c.1062-9dup
NM_000183.3(HADHB):c.1371G>A (p.Ala457=)	rs72851542
NM_000183.3(HADHB):c.5_7dup (p.Thr2dup)	rs3839049
NM_000183.3(HADHB):c.64+22dup
NM_000183.3(HADHB):c.812-5A>T	rs72851534
NM_000183.3(HADHB):c.812-6dup

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