ClinVar Miner

List of variants reported as likely pathogenic by ALS/MND Lab,University of Malta

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Total variants: 4
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HGVS dbSNP
NM_001917.5(DAO):c.250G>A (p.Ala84Thr) rs781658657
NM_004082.5(DCTN1):c.1864A>T (p.Ile622Phe) rs1328116832
NM_005235.3(ERBB4):c.3814G>A (p.Gly1272Arg) rs371332509
NM_015046.7(SETX):c.5308_5311del (p.Glu1770fs) rs750959420

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