List of variants in gene TRMU reported as likely 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: 17

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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.249-2A>G	rs768299416	0.00002
NM_018006.5(TRMU):c.680G>C (p.Arg227Thr)	rs764622793	0.00002
NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup)	rs753112330
NM_018006.5(TRMU):c.1099C>T (p.Gln367Ter)
NM_018006.5(TRMU):c.1142G>A (p.Gly381Glu)	rs774047684
NM_018006.5(TRMU):c.1258_1259dup (p.Leu420fs)	rs2147124401
NM_018006.5(TRMU):c.652-2A>G
NM_018006.5(TRMU):c.653G>T (p.Ser218Ile)	rs1601977105
NM_018006.5(TRMU):c.697C>T (p.Leu233Phe)
NM_018006.5(TRMU):c.711dup (p.Gln238fs)
NM_018006.5(TRMU):c.758T>C (p.Leu253Pro)	rs766314948
NM_018006.5(TRMU):c.773-1G>C
NM_018006.5(TRMU):c.873+1G>C
NM_018006.5(TRMU):c.880del (p.Arg294fs)	rs1490906786
NM_018006.5(TRMU):c.882del (p.Thr295fs)

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