ClinVar Miner

List of variants in gene PLA2G6 reported as likely pathogenic by Mendelics

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_003560.4(PLA2G6):c.956C>T (p.Thr319Met) rs149653983 0.00029
NM_003560.4(PLA2G6):c.1495G>A (p.Ala499Thr) rs141045127 0.00006
NC_000022.10:g.38511626C>T rs794729212
NM_003560.3(PLA2G6):c.[1351delC];[1942G>A]
NM_003560.4(PLA2G6):c.1085A>T (p.Asn362Ile) rs2145753835
NM_003560.4(PLA2G6):c.1624T>G (p.Phe542Val) rs1602088419
NM_003560.4(PLA2G6):c.1778C>T (p.Pro593Leu) rs1451486649
NM_003560.4(PLA2G6):c.2350G>A (p.Glu784Lys) rs1602051017

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