List of variants in gene AGL reported as pathogenic by Counsyl

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: 11

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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.2681+1G>A	rs201201443	0.00003
NM_000642.3(AGL):c.3652C>T (p.Arg1218Ter)	rs771853367	0.00003
NM_000642.3(AGL):c.2728C>T (p.Arg910Ter)	rs773095419	0.00001
NM_000642.3(AGL):c.276del (p.Gln92fs)	rs1057517243	0.00001
NM_000642.3(AGL):c.853C>T (p.Arg285Ter)	rs755747010	0.00001
NM_000642.3(AGL):c.1589C>G (p.Ser530Ter)	rs1553185905
NM_000642.3(AGL):c.2681+1G>T	rs201201443
NM_000642.3(AGL):c.2717_2721del (p.Gln906fs)	rs1553187957
NM_000642.3(AGL):c.753_756del (p.Asp251fs)	rs748789700
NM_000642.3(AGL):c.958+1G>A	rs1553184657

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