ClinVar Miner

List of variants studied for Acrofacial dysostosis Cincinnati type by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_015425.6(POLR1A):c.1511G>A (p.Arg504His) rs142266408 0.00229
NM_015425.6(POLR1A):c.1967T>C (p.Leu656Pro) rs1673068500

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