ClinVar Miner

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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