ClinVar Miner

List of variants in gene HDAC4 reported as uncertain significance for Chromosome 2q37 deletion syndrome; Neurodevelopmental disorder with central hypotonia and dysmorphic facies

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Minimum conflict level: Report conflict between different conditions
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_001378414.1(HDAC4):c.1748C>T (p.Pro583Leu)	rs201187772	0.00030
NM_001378414.1(HDAC4):c.1649C>T (p.Pro550Leu)	rs151167488	0.00006

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