ClinVar Miner

List of variants studied for Neonatal adrenoleucodystrophy; Peroxisome biogenesis disorder 2A (Zellweger); Rhizomelic chondrodysplasia punctata type 5

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Total variants: 3
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HGVS dbSNP
NM_001131025.1(PEX5):c.1814G>A (p.Ser605Asn) rs146567534
NM_001131025.2(PEX5):c.230G>A rs780957318
NM_001131025.2(PEX5):c.533G>A rs749729761

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