ClinVar Miner

List of variants in gene TMEM67 reported as likely pathogenic for Meckel-Gruber syndrome

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Total variants: 3
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NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser) rs386834180
NM_153704.6(TMEM67):c.514C>T (p.Arg172Ter) rs765468645
NM_153704.6(TMEM67):c.748G>A (p.Gly250Arg) rs587779736

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