ClinVar Miner

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

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Gene type:
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Total variants: 8
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NM_018006.5(TRMU):c.1102-3C>G rs753039116
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.522_524CTT[1] (p.Phe176del) rs762710723
NM_018006.5(TRMU):c.538G>T (p.Val180Phe) rs863224239
NM_018006.5(TRMU):c.82+5G>C rs771076163
NM_018006.5(TRMU):c.835G>A (p.Val279Met) rs387907022

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