List of variants in gene TRMU reported as likely pathogenic by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_018006.5(TRMU):c.82+5G>C	rs771076163	0.00006
NM_018006.5(TRMU):c.1102-3C>G	rs753039116	0.00002
NM_018006.5(TRMU):c.1135G>T (p.Gly379Cys)	rs773023974	0.00002
NM_018006.5(TRMU):c.538G>T (p.Val180Phe)	rs863224239	0.00001
NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup)	rs753112330
NM_018006.5(TRMU):c.215C>T (p.Ser72Phe)	rs1085307928
NM_018006.5(TRMU):c.246C>G (p.Phe82Leu)	rs1057524822
NM_018006.5(TRMU):c.304A>G (p.Asn102Asp)	rs1064794755
NM_018006.5(TRMU):c.522CTT[1] (p.Phe176del)	rs762710723

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