List of variants in gene ALS2 reported as pathogenic for anterior horn disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_020919.4(ALS2):c.3415C>T (p.Arg1139Ter)	rs767350733	0.00002
NM_020919.4(ALS2):c.4626+1G>A	rs1234882220	0.00001
NM_020919.4(ALS2):c.1233T>G (p.Tyr411Ter)	rs369577952
NM_020919.4(ALS2):c.138del (p.Ala47fs)	rs386134173
NM_020919.4(ALS2):c.2002G>T (p.Gly668Ter)	rs730882255
NM_020919.4(ALS2):c.2580+2T>C	rs2106023727
NM_020919.4(ALS2):c.2707dup (p.Met903fs)	rs2106012637
NM_020919.4(ALS2):c.2761C>T (p.Arg921Ter)	rs587777132
NM_020919.4(ALS2):c.3520A>T (p.Lys1174Ter)	rs757972700
NM_020919.4(ALS2):c.4223T>A (p.Leu1408Ter)	rs2105972075
NM_020919.4(ALS2):c.4270C>T (p.Gln1424Ter)	rs1689931402
NM_020919.4(ALS2):c.4381C>T (p.Arg1461Ter)	rs374047961
NM_020919.4(ALS2):c.4573dup (p.Val1525fs)	rs730882256
NM_020919.4(ALS2):c.553del (p.Thr185fs)	rs386134174

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