ClinVar Miner

List of variants reported as benign for Mitochondrial trifunctional protein deficiency by Illumina Laboratory Services, Illumina

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_000183.3(HADHB):c.*136G>C rs1056471 0.88075
NM_000183.2(HADHB):c.-201G>A rs3806516 0.60985
NM_000183.3(HADHB):c.825T>C (p.Val275=) rs1056389 0.17317
NM_000182.5(HADHA):c.*302G>A rs1049987 0.17222
NM_000183.3(HADHB):c.1014-14A>G rs17528590 0.17198
NM_000182.5(HADHA):c.474C>T (p.Tyr158=) rs11552518 0.16973
NM_000183.3(HADHB):c.1149+4A>T rs2303893 0.08727
NM_000183.3(HADHB):c.*486G>A rs7601689 0.04939
NM_000182.5(HADHA):c.*510A>T rs13432453 0.04522
NM_000183.3(HADHB):c.*196A>G rs7586822 0.03799
NM_000183.3(HADHB):c.*351C>G rs7575987 0.02538
NM_000182.5(HADHA):c.1392+10G>A rs60085478 0.02277
NM_000183.3(HADHB):c.966G>A (p.Ala322=) rs7572240 0.02064
NM_000182.5(HADHA):c.1620+11G>C rs112236946 0.01807
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_000182.5(HADHA):c.*561C>T rs115151034 0.00544
NM_000182.5(HADHA):c.*331T>C rs189483687 0.00500
NM_000182.5(HADHA):c.1690-6G>A rs111662358 0.00412
NM_000182.5(HADHA):c.68-10T>G rs144414842 0.00403
NM_000182.5(HADHA):c.2060T>C (p.Met687Thr) rs149632783 0.00173
NM_000183.3(HADHB):c.*52A>G rs183649494 0.00056
NM_000182.5(HADHA):c.*202G>A rs7260
NM_000183.3(HADHB):c.5_7dup (p.Thr2dup) rs3839049
NM_000183.3(HADHB):c.812-5A>T rs72851534

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