List of variants in gene AGL reported as likely pathogenic by Genome-Nilou Lab

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: 39

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HGVS	dbSNP	gnomAD frequency
NM_000642.3(AGL):c.4459C>T (p.Arg1487Ter)	rs12118058	0.00011
NM_000642.3(AGL):c.4260-12A>G	rs369973784	0.00006
NM_000642.3(AGL):c.2309-2A>G	rs1253347170	0.00001
NM_000642.3(AGL):c.3259+1G>A	rs1394576194	0.00001
NM_000642.3(AGL):c.664+3A>G	rs370792293	0.00001
NM_000642.3(AGL):c.907C>T (p.Gln303Ter)	rs145362161	0.00001
NM_000642.3(AGL):c.1169_1172del (p.Asn390fs)	rs1057516741
NM_000642.3(AGL):c.1423+1G>T	rs751952198
NM_000642.3(AGL):c.1437C>A (p.Tyr479Ter)	rs140095668
NM_000642.3(AGL):c.1907C>G (p.Ser636Ter)
NM_000642.3(AGL):c.2024_2033del (p.Arg675fs)	rs1652003965
NM_000642.3(AGL):c.214_215del (p.Glu72fs)	rs754978531
NM_000642.3(AGL):c.2155C>T (p.Gln719Ter)	rs1652018859
NM_000642.3(AGL):c.2158-2A>G	rs878959417
NM_000642.3(AGL):c.2223_2224del (p.Gln741fs)	rs1553186613
NM_000642.3(AGL):c.223_224del (p.Glu74_Asp75insTer)	rs767346840
NM_000642.3(AGL):c.2538dup (p.Ile847fs)	rs1057516984
NM_000642.3(AGL):c.2605C>T (p.Gln869Ter)	rs1057516254
NM_000642.3(AGL):c.2799T>G (p.Tyr933Ter)	rs767529587
NM_000642.3(AGL):c.2894G>A (p.Trp965Ter)	rs1652877420
NM_000642.3(AGL):c.293+1del	rs777857395
NM_000642.3(AGL):c.294-2A>T	rs1057516868
NM_000642.3(AGL):c.2949+2T>A	rs750492389
NM_000642.3(AGL):c.2950-2A>C	rs770438130
NM_000642.3(AGL):c.3362+1G>A	rs1553189468
NM_000642.3(AGL):c.3589-1G>A	rs1289339080
NM_000642.3(AGL):c.3772_3776del (p.Thr1258fs)	rs2100849229
NM_000642.3(AGL):c.3807dup (p.Arg1270Ter)	rs1057517017
NM_000642.3(AGL):c.3816_3817del (p.Gly1273fs)	rs867341758
NM_000642.3(AGL):c.3911del (p.Asn1304fs)	rs745757264
NM_000642.3(AGL):c.4126C>T (p.Gln1376Ter)	rs762602838
NM_000642.3(AGL):c.4165_4166del (p.Ala1388_Pro1389insTer)	rs1293077915
NM_000642.3(AGL):c.4323del (p.Gly1442fs)	rs1057516994
NM_000642.3(AGL):c.4348G>T (p.Glu1450Ter)	rs1553193486
NM_000642.3(AGL):c.454G>T (p.Glu152Ter)	rs1650125542
NM_000642.3(AGL):c.460+1G>A	rs930434905
NM_000642.3(AGL):c.535_538del (p.Leu179fs)	rs794727706
NM_000642.3(AGL):c.664+1G>A	rs61811105
NM_000642.3(AGL):c.861_864del (p.Ile288fs)	rs1571243699

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