ClinVar Miner

List of variants reported as likely pathogenic for Cranioectodermal dysplasia 2; Short rib polydactyly syndrome 5

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Total variants: 3
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NM_001006657.2(WDR35):c.1288+1G>A rs371669862
NM_001006657.2(WDR35):c.1879-30_1881del rs1553317813
NM_001006657.2(WDR35):c.3378G>A (p.Leu1126=)

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