ClinVar Miner

List of variants reported as uncertain significance for Abnormality of neuronal migration by Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_021963.4(NAP1L2):c.508T>C (p.Ser170Pro) rs34995284 0.00119
NM_001304548.2(CFAP47):c.8311A>G (p.Met2771Val) rs782477064 0.00005
NM_001079855.2(GYG2):c.340G>A (p.Asp114Asn) rs863223369 0.00002
NM_005371.5(METTL1):c.542T>C rs863223376 0.00001
NM_006044.4(HDAC6):c.1538G>A (p.Arg513His) rs782506012 0.00001
NM_203408.4(FAM47A):c.127A>G (p.Met43Val) rs776397953 0.00001
NM_001447.2(FAT2):c.[2773T>C];[930T>G]
NM_004650.3(PNPLA4):c.224G>A (p.Arg75Lys) rs863223374
NM_006514.3(SCN10A):c.[2530C>T];[597G>T]
NM_015959.3(TMX2):c.[326A>G];[691C>T]
NM_032856.3(WDR73):c.[293T>C];[333delG]
NM_033518.4(SLC38A5):c.806T>C (p.Phe269Ser) rs863223370

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