ClinVar Miner

List of variants studied for Deafness, autosomal recessive 53 by Laboratory of Prof. Karen Avraham,Tel Aviv University

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Total variants: 2
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NM_080680.3(COL11A2):c.3385G>A (p.Gly1129Arg) rs550153707
NM_080680.3(COL11A2):c.968dup (p.Ala324fs) rs1583366400

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