ClinVar Miner

List of variants in gene HEATR5B reported as likely pathogenic for Congenital pontocerebellar hypoplasia

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_019024.3(HEATR5B):c.5050+4A>G	rs1667224478
NM_019024.3(HEATR5B):c.5051-1G>A	rs1667163007

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