ClinVar Miner

List of variants studied 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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