ClinVar Miner

List of variants in gene WDR37 reported as likely pathogenic for Congenital cerebellar hypoplasia; Epilepsy; Congenital ocular coloboma; Intellectual disability; Dysmorphism; Developmental delay

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Gene type:
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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_014023.4(WDR37):c.356C>T (p.Ser119Phe) rs1589088690
NM_014023.4(WDR37):c.374C>T (p.Thr125Ile) rs1554823375
NM_014023.4(WDR37):c.386C>G (p.Ser129Cys) rs1589088702
NM_014023.4(WDR37):c.389C>T (p.Thr130Ile) rs1589088703

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