ClinVar Miner

List of variants in gene LBR reported as uncertain significance for Pelger-Huët anomaly; Greenberg dysplasia; Reynolds syndrome; Regressive spondylometaphyseal dysplasia

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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_002296.4(LBR):c.1366C>G (p.Leu456Val)	rs377110126	0.00001
NM_002296.4(LBR):c.860T>C (p.Ile287Thr)	rs201093644	0.00001

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