ClinVar Miner

List of variants in gene PLA2G6 reported as pathogenic for PLA2G6-associated neurodegeneration

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680 0.00006
NM_003560.4(PLA2G6):c.2239C>T (p.Arg747Trp) rs121908687 0.00003
NC_000022.10:g.38522454delG rs587784329 0.00001
NM_003560.4(PLA2G6):c.1077G>A (p.Ser359=) rs368497893 0.00001
NM_003560.4(PLA2G6):c.109C>T (p.Arg37Ter) rs200075782 0.00001
NM_003560.4(PLA2G6):c.1427+1G>A rs750939090 0.00001
NM_003560.4(PLA2G6):c.1903C>T (p.Arg635Ter) rs587784339 0.00001
NM_003560.4(PLA2G6):c.1186+1G>A rs761815070
NM_003560.4(PLA2G6):c.127C>T (p.Gln43Ter)
NM_003560.4(PLA2G6):c.1427+2T>C
NM_003560.4(PLA2G6):c.1A>G (p.Met1Val)
NM_003560.4(PLA2G6):c.2098C>T (p.Gln700Ter) rs587784346
NM_003560.4(PLA2G6):c.319del (p.Leu107fs) rs776376695
NM_003560.4(PLA2G6):c.991G>T (p.Asp331Tyr) rs199935023

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