ClinVar Miner

List of variants reported as pathogenic for Amelogenesis imperfecta, type IV; Tricho-dento-osseous syndrome by Leeds Amelogenesis Imperfecta Research Group, University of Leeds

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Total variants: 2
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HGVS dbSNP
NM_005220.3(DLX3):c.476G>T (p.Arg159Leu) rs1555617226
NM_005220.3(DLX3):c.574del (p.Glu192fs) rs1057518764

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