ClinVar Miner

List of variants reported as likely pathogenic for Infantile neuroaxonal dystrophy

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Total variants: 14
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HGVS dbSNP
NC_000022.10:g.38511626C>T rs794729212
NM_003560.3(PLA2G6):c.[1351delC];[1942G>A]
NM_003560.4(PLA2G6):c.1186+1G>A rs761815070
NM_003560.4(PLA2G6):c.1427+1G>A rs750939090
NM_003560.4(PLA2G6):c.1435C>G (p.His479Asp) rs1235695530
NM_003560.4(PLA2G6):c.1495G>A (p.Ala499Thr) rs141045127
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.2128C>T (p.Arg710Cys) rs587784347
NM_003560.4(PLA2G6):c.2350G>A (p.Glu784Lys) rs1602051017
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680
NM_003560.4(PLA2G6):c.757G>A (p.Gly253Ser) rs745643715
NM_003560.4(PLA2G6):c.834G>C (p.Gln278His) rs1556010444
NM_003560.4(PLA2G6):c.962T>C (p.Leu321Pro) rs1569264087

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