ClinVar Miner

List of variants in gene PAX3 reported as likely benign for Waardenburg syndrome

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Gene type:
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Total variants: 3
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NM_181458.4(PAX3):c.1118C>T (p.Pro373Leu) rs200701839
NM_181458.4(PAX3):c.580G>A (p.Glu194Lys) rs148454691
NM_181458.4(PAX3):c.879G>T (p.Gly293=) rs45522331

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