List of variants in gene AGL reported as likely pathogenic by Baylor Genetics

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: 82

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000642.3(AGL):c.2023C>T (p.Arg675Trp)	rs765749454	0.00001
NM_000642.3(AGL):c.2723T>G (p.Leu908Arg)	rs772347559	0.00001
NM_000642.3(AGL):c.3350dup (p.Tyr1117Ter)	rs1432024176	0.00001
NM_000642.3(AGL):c.4353G>T (p.Trp1451Cys)	rs775685508	0.00001
NM_000642.3(AGL):c.685C>T (p.Gln229Ter)	rs971749992	0.00001
NM_000642.3(AGL):c.907C>T (p.Gln303Ter)	rs145362161	0.00001
NM_000642.3(AGL):c.1041dup (p.Val348fs)	rs2101126325
NM_000642.3(AGL):c.1148C>G (p.Ser383Ter)
NM_000642.3(AGL):c.1243A>T (p.Lys415Ter)	rs2101128697
NM_000642.3(AGL):c.1283+2T>C
NM_000642.3(AGL):c.1284-1G>A
NM_000642.3(AGL):c.1284-2A>G	rs1651536973
NM_000642.3(AGL):c.1447G>T (p.Glu483Ter)
NM_000642.3(AGL):c.1517G>A (p.Trp506Ter)
NM_000642.3(AGL):c.1612-1G>A	rs1327892944
NM_000642.3(AGL):c.1637T>A (p.Leu546Ter)
NM_000642.3(AGL):c.1680_1683dup (p.Asp562Ter)
NM_000642.3(AGL):c.1688delinsGA (p.Leu563fs)	rs1651876879
NM_000642.3(AGL):c.1788T>G (p.Tyr596Ter)	rs777871903
NM_000642.3(AGL):c.193_194del (p.Leu65fs)
NM_000642.3(AGL):c.1942dup (p.Ser648fs)	rs2100758555
NM_000642.3(AGL):c.1998del (p.Gln667fs)
NM_000642.3(AGL):c.2034del (p.Lys679fs)
NM_000642.3(AGL):c.2036del (p.Lys679fs)	rs2100759432
NM_000642.3(AGL):c.2207C>A (p.Ser736Ter)
NM_000642.3(AGL):c.223_224del (p.Glu74_Asp75insTer)	rs767346840
NM_000642.3(AGL):c.2349_2352del (p.Arg784fs)
NM_000642.3(AGL):c.2351_2352del (p.Arg784fs)
NM_000642.3(AGL):c.2457_2460del (p.Gln820fs)	rs1553187237
NM_000642.3(AGL):c.2538dup (p.Ile847fs)	rs1057516984
NM_000642.3(AGL):c.2799T>G (p.Tyr933Ter)	rs767529587
NM_000642.3(AGL):c.2812+1G>C
NM_000642.3(AGL):c.2869del (p.Cys957fs)
NM_000642.3(AGL):c.2905dup (p.Tyr969fs)	rs1652879873
NM_000642.3(AGL):c.293+1G>T
NM_000642.3(AGL):c.294-1G>C	rs757967016
NM_000642.3(AGL):c.294-2A>T	rs1057516868
NM_000642.3(AGL):c.2950-1G>A	rs1057516793
NM_000642.3(AGL):c.296del (p.Asn99fs)
NM_000642.3(AGL):c.2989C>T (p.Gln997Ter)
NM_000642.3(AGL):c.3011del (p.Pro1004fs)	rs1057516306
NM_000642.3(AGL):c.3083+1G>T
NM_000642.3(AGL):c.3084-1G>A
NM_000642.3(AGL):c.3091C>T (p.Gln1031Ter)
NM_000642.3(AGL):c.3204_3205dup (p.Arg1069fs)
NM_000642.3(AGL):c.3238del (p.Cys1080fs)
NM_000642.3(AGL):c.3259+1G>C
NM_000642.3(AGL):c.3362+2T>C	rs2100804114
NM_000642.3(AGL):c.3362G>A (p.Arg1121Lys)	rs1653326843
NM_000642.3(AGL):c.3588_3588+14del
NM_000642.3(AGL):c.3589-3C>G	rs1653935585
NM_000642.3(AGL):c.3630del (p.Lys1210fs)	rs1653938652
NM_000642.3(AGL):c.3662del (p.Asn1221fs)
NM_000642.3(AGL):c.36_37insCG (p.Asn13fs)	rs762545015
NM_000642.3(AGL):c.3701-2A>G
NM_000642.3(AGL):c.3733del (p.Thr1245fs)
NM_000642.3(AGL):c.3745del (p.Tyr1249fs)
NM_000642.3(AGL):c.3882dup (p.Arg1295fs)
NM_000642.3(AGL):c.3949+1G>C
NM_000642.3(AGL):c.3972T>G (p.Tyr1324Ter)
NM_000642.3(AGL):c.4100del (p.Gly1367fs)	rs777120567
NM_000642.3(AGL):c.4162-1G>A	rs1490339052
NM_000642.3(AGL):c.4162-5_4162-1delinsCTAGTGAAT
NM_000642.3(AGL):c.4255_4259+150del
NM_000642.3(AGL):c.4256dup (p.Asp1420fs)
NM_000642.3(AGL):c.4259+5G>A	rs780504025
NM_000642.3(AGL):c.4481+2T>G	rs1553193530
NM_000642.3(AGL):c.471del (p.Met157fs)
NM_000642.3(AGL):c.506_507insA (p.Ser169_Arg170insTer)
NM_000642.3(AGL):c.535_538del (p.Leu179fs)	rs794727706
NM_000642.3(AGL):c.538G>T (p.Glu180Ter)
NM_000642.3(AGL):c.557C>G (p.Ser186Ter)
NM_000642.3(AGL):c.604del (p.Glu202fs)
NM_000642.3(AGL):c.619del (p.Glu207fs)
NM_000642.3(AGL):c.665-2A>G
NM_000642.3(AGL):c.743G>A (p.Trp248Ter)
NM_000642.3(AGL):c.809dup (p.Ile271fs)
NM_000642.3(AGL):c.83-2A>G
NM_000642.3(AGL):c.861_864del (p.Ile288fs)	rs1571243699
NM_000642.3(AGL):c.947_948del (p.Leu316fs)	rs1650934988
NM_000642.3(AGL):c.958+1G>C
NM_000642.3(AGL):c.967C>T (p.Arg323Ter)	rs757987101

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.