ClinVar Miner

List of variants reported as likely pathogenic for Meckel syndrome, type 2 by Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)

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Total variants: 3
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NM_001173990.3(TMEM216):c.230G>C (p.Gly77Ala) rs386833830
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter) rs11230683
NM_001173990.3(TMEM216):c.341T>G (p.Leu114Arg) rs386833831

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