ClinVar Miner

List of variants reported as benign for Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_004136.4(IREB2):c.2472+12A>C rs4887060 0.99312
NM_004136.4(IREB2):c.1739T>C (p.Ile580Thr) rs2230940 0.96873
NM_004136.4(IREB2):c.2616C>T (p.Ala872=) rs13180 0.50562
NM_004136.4(IREB2):c.883+19A>G rs3817092 0.15138
NM_004136.4(IREB2):c.2781+23T>C rs2292116 0.15129
NM_004136.4(IREB2):c.629+22A>C rs2938672

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