ClinVar Miner

List of variants in gene PLA2G6 reported as likely pathogenic for Infantile neuroaxonal dystrophy

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Total variants: 42
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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.386T>C (p.Leu129Pro) rs374746113 0.00019
NM_003560.4(PLA2G6):c.2129G>A (p.Arg710His) rs147455037 0.00010
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.209+2T>G rs760904035 0.00003
NM_003560.4(PLA2G6):c.1111G>A (p.Val371Met) rs765156550 0.00001
NM_003560.4(PLA2G6):c.1427+1G>A rs750939090 0.00001
NM_003560.4(PLA2G6):c.1501G>C (p.Glu501Gln) rs587784332 0.00001
NM_003560.4(PLA2G6):c.1898C>T (p.Ala633Val) rs201657455 0.00001
NM_003560.4(PLA2G6):c.2035-2A>G rs1602057157 0.00001
NM_003560.4(PLA2G6):c.2128C>T (p.Arg710Cys) rs587784347 0.00001
NM_003560.4(PLA2G6):c.2249G>A (p.Cys750Tyr) rs751225193 0.00001
NC_000022.10:g.(?_38541425)_(38541680_?)del
NC_000022.10:g.38511626C>T rs794729212
NM_003560.3(PLA2G6):c.[1351delC];[1942G>A]
NM_003560.4(PLA2G6):c.1078-1G>A
NM_003560.4(PLA2G6):c.1085A>T (p.Asn362Ile) rs2145753835
NM_003560.4(PLA2G6):c.1183_1186+8del
NM_003560.4(PLA2G6):c.1186+1G>A rs761815070
NM_003560.4(PLA2G6):c.1349-2A>G rs797045888
NM_003560.4(PLA2G6):c.1435C>G (p.His479Asp) rs1235695530
NM_003560.4(PLA2G6):c.1547C>T (p.Ala516Val)
NM_003560.4(PLA2G6):c.1592-1G>C
NM_003560.4(PLA2G6):c.1592-2A>C rs1465629909
NM_003560.4(PLA2G6):c.1624T>G (p.Phe542Val) rs1602088419
NM_003560.4(PLA2G6):c.1630A>G (p.Met544Val)
NM_003560.4(PLA2G6):c.1630A>T (p.Met544Leu)
NM_003560.4(PLA2G6):c.1640A>G (p.Glu547Gly) rs1060499764
NM_003560.4(PLA2G6):c.1703T>C (p.Phe568Ser) rs2145710946
NM_003560.4(PLA2G6):c.1743-2A>G
NM_003560.4(PLA2G6):c.1778C>T (p.Pro593Leu) rs1451486649
NM_003560.4(PLA2G6):c.1816del (p.Glu606fs)
NM_003560.4(PLA2G6):c.2035-1G>A
NM_003560.4(PLA2G6):c.2350G>A (p.Glu784Lys) rs1602051017
NM_003560.4(PLA2G6):c.238G>T (p.Ala80Ser) rs121908685
NM_003560.4(PLA2G6):c.353C>T (p.Pro118Leu) rs765125582
NM_003560.4(PLA2G6):c.668C>T (p.Pro223Leu) rs776753796
NM_003560.4(PLA2G6):c.757G>A (p.Gly253Ser) rs745643715
NM_003560.4(PLA2G6):c.798-1G>T
NM_003560.4(PLA2G6):c.834G>C (p.Gln278His) rs1556010444
NM_003560.4(PLA2G6):c.962T>C (p.Leu321Pro) rs1569264087

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