ClinVar Miner

List of variants studied for Ritscher-Schinzel syndrome 2 by Genome-Nilou Lab

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_014008.5(CCDC22):c.1540-18T>C rs2294021 0.50585
NM_014008.5(CCDC22):c.1288G>A (p.Ala430Thr) rs144632022 0.00602
NM_014008.5(CCDC22):c.747= (p.Gln249=) rs2294020

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