ClinVar Miner

List of variants studied for Neurodegeneration with brain iron accumulation 2B by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_003560.4(PLA2G6):c.2222G>A (p.Arg741Gln) rs121908686 0.00009
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680 0.00006
NM_003560.4(PLA2G6):c.1613G>A (p.Arg538His) rs535486098 0.00001
NM_003560.4(PLA2G6):c.1676C>T (p.Pro559Leu) rs2145711085
NM_003560.4(PLA2G6):c.370C>T (p.His124Tyr) rs1167264006
NM_003560.4(PLA2G6):c.609+2T>C rs2518055647
NM_003560.4(PLA2G6):c.668C>T (p.Pro223Leu) rs776753796
NM_003560.4(PLA2G6):c.790C>T (p.Gln264Ter) rs2518041104

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