ClinVar Miner

List of variants reported as likely pathogenic for Meckel syndrome, type 2

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Total variants: 8
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HGVS dbSNP
NM_001173990.3(TMEM216):c.222del (p.Phe76fs) rs1057517512
NM_001173990.3(TMEM216):c.228del (p.Phe76fs) rs767384710
NM_001173990.3(TMEM216):c.228dup (p.Gly77fs) rs767384710
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.34+2T>C rs1057517498
NM_001173990.3(TMEM216):c.341T>G (p.Leu114Arg) rs386833831
NM_001173990.3(TMEM216):c.35-2A>G rs1057517528

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