ClinVar Miner

List of variants in gene HDAC8 reported as pathogenic for Inborn genetic diseases

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_018486.3(HDAC8):c.932C>T (p.Thr311Met) rs397515417 0.00001
NM_001410729.1(HDAC8):c.915del (p.Arg306fs) rs1555991965
NM_018486.3(HDAC8):c.416G>C (p.Gly139Ala) rs878853048
NM_018486.3(HDAC8):c.496C>T (p.Arg166Ter) rs886041936
NM_018486.3(HDAC8):c.755_761del (p.Tyr252fs) rs1555993215

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