ClinVar Miner

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

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Total variants: 3
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HGVS dbSNP
NM_020779.4(WDR35):c.1255+1G>A rs371669862
NM_020779.4(WDR35):c.1846-30_1848del rs1553317813
NM_020779.4(WDR35):c.3345G>A (p.Leu1115=) rs746128772

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