ClinVar Miner

List of variants in gene MTM1 reported as pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000252.3(MTM1):c.1210G>A (p.Glu404Lys) rs781933660
NM_000252.3(MTM1):c.1261-10A>G rs397518445
NM_000252.3(MTM1):c.141_144del rs587783791
NM_000252.3(MTM1):c.670C>T (p.Arg224Ter) rs132630306
NM_000252.3(MTM1):c.721C>T (p.Arg241Cys) rs132630305
NM_000252.3(MTM1):c.782_783del (p.Leu261fs)

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