ClinVar Miner

List of variants reported as likely pathogenic for Acromesomelic dysplasia Maroteaux type; Epiphyseal chondrodysplasia, miura type

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Total variants: 2
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HGVS dbSNP
NM_003995.3(NPR2):c.2713-2A>T rs1563993649
NM_003995.3(NPR2):c.987+1G>C rs1554672893

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