ClinVar Miner

List of variants reported as likely pathogenic by Northcott Neuroscience Laboratory, ANZAC Research Institute

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Total variants: 7
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HGVS dbSNP
NM_006158.4(NEFL):c.1007T>C (p.Leu336Pro) rs587777881
NM_006158.4(NEFL):c.1319C>T (p.Pro440Leu) rs587777882
NM_006158.4(NEFL):c.794A>G (p.Tyr265Cys) rs587777880
NM_006158.4(NEFL):c.803T>G (p.Leu268Arg) rs62636502
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp) rs534723946
NM_015074.3(KIF1B):c.1977+6213G>T rs587777883
NM_015074.3(KIF1B):c.4073T>C (p.Val1358Ala) rs200561798

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