List of variants in gene ALS2 reported as likely pathogenic by Invitae

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_020919.4(ALS2):c.4004+1G>A	rs1690335308	0.00001
NM_020919.4(ALS2):c.1114-1G>A	rs2106080813
NM_020919.4(ALS2):c.1600G>C (p.Gly534Arg)	rs1553513641
NM_020919.4(ALS2):c.1816-1G>A	rs1060503672
NM_020919.4(ALS2):c.2842-2A>G	rs2106009582
NM_020919.4(ALS2):c.3248+1G>C
NM_020919.4(ALS2):c.3248+1G>T	rs2106005949
NM_020919.4(ALS2):c.3348-1G>A	rs2106001462
NM_020919.4(ALS2):c.3624+1G>A	rs2105998730
NM_020919.4(ALS2):c.3703-2A>G	rs1690532210
NM_020919.4(ALS2):c.4123-2A>G
NM_020919.4(ALS2):c.4403+2T>A
NM_020919.4(ALS2):c.4838+1G>A

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