ClinVar Miner

List of variants reported as likely pathogenic for Infantile neuroaxonal dystrophy; Neurodegeneration with brain iron accumulation 2B; Autosomal recessive Parkinson disease 14 by Molecular Genetics Lab, CHRU Brest

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_003560.4(PLA2G6):c.1077G>A (p.Ser359=) rs368497893 0.00001
NM_003560.4(PLA2G6):c.2233C>T (p.Arg745Trp) rs587784350 0.00001

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