ClinVar Miner

List of variants reported as benign for acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins by Natera, Inc.

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_018006.5(TRMU):c.28G>T (p.Ala10Ser) rs11090865 0.13476
NM_018006.5(TRMU):c.1176G>A (p.Thr392=) rs34591580 0.06826
NM_018006.5(TRMU):c.1192C>T (p.Arg398Cys) rs34152016 0.03308
NM_018006.5(TRMU):c.552C>T (p.Ala184=) rs35772382 0.03164
NM_018006.5(TRMU):c.10T>G (p.Leu4Val) rs114302881 0.02970
NM_018006.5(TRMU):c.927C>T (p.Arg309=) rs9627420 0.02832
NM_018006.5(TRMU):c.9C>G (p.Ala3=) rs75417986 0.02729
NM_018006.5(TRMU):c.*8G>C rs55905826 0.01809
NM_018006.5(TRMU):c.442G>A (p.Glu148Lys) rs34012206 0.01506
NM_018006.5(TRMU):c.479C>T (p.Ala160Val) rs35338668 0.01380
NM_018006.5(TRMU):c.864C>T (p.Asp288=) rs61737827 0.01333
NM_018006.5(TRMU):c.387A>G (p.Ala129=) rs144586525 0.00478
NM_018006.5(TRMU):c.75G>T (p.Arg25Ser) rs2272938 0.00065
NM_018006.5(TRMU):c.1158G>A (p.Leu386=) rs79874854 0.00013
NM_018006.5(TRMU):c.272A>G (p.Lys91Arg) rs138044544 0.00002
NM_018006.5(TRMU):c.567C>G (p.Ile189Met) rs192537315

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