ClinVar Miner

List of variants in gene PLA2G6 reported by Mendelics

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Total variants: 20
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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
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680 0.00006
NM_003560.4(PLA2G6):c.2032A>G (p.Lys678Glu) rs2087135251 0.00001
NM_003560.4(PLA2G6):c.2128C>T (p.Arg710Cys) rs587784347 0.00001
NC_000022.10:g.38511626C>T rs794729212
NM_003560.3(PLA2G6):c.[1351delC];[1942G>A]
NM_003560.4(PLA2G6):c.1069G>A (p.Ala357Thr) rs2145770192
NM_003560.4(PLA2G6):c.1085A>T (p.Asn362Ile) rs2145753835
NM_003560.4(PLA2G6):c.1428-5T>G rs1555988730
NM_003560.4(PLA2G6):c.1474_1478del (p.Ile492fs) rs2145722213
NM_003560.4(PLA2G6):c.1624T>G (p.Phe542Val) rs1602088419
NM_003560.4(PLA2G6):c.164G>A (p.Trp55Ter) rs1177564212
NM_003560.4(PLA2G6):c.1772G>A (p.Arg591Gln) rs776713955
NM_003560.4(PLA2G6):c.1778C>T (p.Pro593Leu) rs1451486649
NM_003560.4(PLA2G6):c.1969G>A (p.Ala657Thr) rs1318351016
NM_003560.4(PLA2G6):c.2276+1G>A rs1397030516
NM_003560.4(PLA2G6):c.2350G>A (p.Glu784Lys) rs1602051017
NM_003560.4(PLA2G6):c.437dup (p.Cys146fs) rs1216972369
NM_003560.4(PLA2G6):c.798-22A>T rs372731031

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