List of variants in gene TRMU reported as pathogenic for Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_018006.5(TRMU):c.835G>A (p.Val279Met)	rs387907022	0.00011
NM_018006.5(TRMU):c.1102-3C>G	rs753039116	0.00002
NM_018006.5(TRMU):c.117G>A (p.Trp39Ter)	rs1174791046	0.00001
NM_018006.5(TRMU):c.718C>T (p.Arg240Ter)	rs367683258	0.00001
NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup)	rs753112330
NM_018006.5(TRMU):c.229T>C (p.Tyr77His)	rs118203990
NM_018006.5(TRMU):c.2T>A (p.Met1Lys)	rs118203992
NM_018006.5(TRMU):c.706-1G>A	rs778799889
NM_018006.5(TRMU):c.815G>A (p.Gly272Asp)	rs118203991
NM_018006.5(TRMU):c.954dup (p.Ala319fs)	rs863224242
NM_018006.5:c.[2T>A];[835G>A]

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