List of variants in gene ALS2 reported as pathogenic by Paris Brain Institute, Inserm - ICM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_020919.4(ALS2):c.575C>T (p.Pro192Leu)	rs778003334	0.00001
NM_020919.4(ALS2):c.3221G>A (p.Gly1074Asp)	rs2106005994
NM_020919.4(ALS2):c.326del (p.Asn109fs)	rs2106089798
NM_020919.4(ALS2):c.3513-1G>A	rs2105999102
NM_020919.4(ALS2):c.3619del (p.Lys1206_Met1207insTer)	rs386134187
NM_020919.4(ALS2):c.4381C>T (p.Arg1461Ter)	rs374047961
NM_020919.4(ALS2):c.4832G>A (p.Arg1611Gln)	rs1689578912
NM_020919.4(ALS2):c.601C>T (p.Arg201Ter)	rs1574787779

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