ClinVar Miner

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

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001173990.3(TMEM216):c.218G>A (p.Arg73His)	rs201108965
NM_001173990.3(TMEM216):c.230G>C (p.Gly77Ala)	rs386833830
NM_001173990.3(TMEM216):c.341T>G (p.Leu114Arg)	rs386833831

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