ClinVar Miner

List of variants studied for Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 by 3billion

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_144772.3(NAXE):c.229del (p.Gln77fs) rs2102489197
NM_144772.3(NAXE):c.536dup (p.Tyr180fs) rs1677397982
NM_144772.3(NAXE):c.611T>C (p.Leu204Pro) rs2102491191

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