List of variants in gene AGL reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter)	rs267606640	0.00006
NM_000642.3(AGL):c.1078C>T (p.His360Tyr)	rs763554006	0.00001
NM_000642.3(AGL):c.3682C>T (p.Arg1228Ter)	rs113994131	0.00001
NM_000642.3(AGL):c.3836+1G>A	rs780883601	0.00001
NM_000642.3(AGL):c.1020del (p.Glu340fs)	rs1651357012
NM_000642.3(AGL):c.1025_1026del (p.Arg342fs)
NM_000642.3(AGL):c.2714del (p.Asn905fs)
NM_000642.3(AGL):c.294-2A>T	rs1057516868
NM_000642.3(AGL):c.3544_3551dup (p.Thr1185fs)	rs770701389
NM_000642.3(AGL):c.3772_3776del (p.Thr1258fs)	rs2100849229
NM_000642.3(AGL):c.4197del (p.Ala1400fs)	rs786204595
NM_000642.3(AGL):c.4456del (p.Ser1486fs)	rs113994134

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