ClinVar Miner

List of variants studied for Neurodegeneration with brain iron accumulation 2B by OMIM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_003560.4(PLA2G6):c.2370_2371del (p.Tyr790_Glu791delinsTer) rs587784353 0.00003
NM_003560.4(PLA2G6):c.238G>A (p.Ala80Thr) rs121908685 0.00001
NM_003560.4(PLA2G6):c.1634A>C (p.Lys545Thr) rs121908681

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