ClinVar Miner

List of variants reported for Catel-Manzke syndrome by CHU Sainte-Justine Research Center, University of Montreal

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_014305.4(TGDS):c.305C>T (p.Thr102Ile)	rs775273838	0.00001
NM_014305.4(TGDS):c.457-2A>G	rs1888779255

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