ClinVar Miner

List of variants studied for Cranioectodermal dysplasia 2 by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_020779.4(WDR35):c.932G>T (p.Trp311Leu) rs200649783 0.00003
NM_020779.4(WDR35):c.206G>A (p.Gly69Asp) rs765513105
NM_020779.4(WDR35):c.3363-29_3363-18del rs1270558293

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