List of variants in gene AGL reported as pathogenic by Eurofins NTD LLC (GA)

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: 17

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HGVS	dbSNP	gnomAD frequency
NM_000642.3(AGL):c.256C>T (p.Gln86Ter)	rs193186112	0.00014
NM_000642.3(AGL):c.2590C>T (p.Arg864Ter)	rs113994130	0.00006
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter)	rs267606640	0.00006
NM_000642.3(AGL):c.4260-12A>G	rs369973784	0.00006
NM_000642.3(AGL):c.3965del (p.Val1322fs)	rs113994132	0.00004
NM_000642.3(AGL):c.16C>T (p.Gln6Ter)	rs113994126	0.00003
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.2039G>A (p.Trp680Ter)	rs113994129	0.00002
NM_000642.3(AGL):c.3682C>T (p.Arg1228Ter)	rs113994131	0.00001
NM_000642.3(AGL):c.1485del (p.Arg494_Tyr495insTer)	rs794727051
NM_000642.3(AGL):c.18_19del (p.Gln6fs)	rs113994127
NM_000642.3(AGL):c.2158-1G>A	rs886043990
NM_000642.3(AGL):c.289C>T (p.Gln97Ter)	rs1553183220
NM_000642.3(AGL):c.3216_3217del (p.Glu1072fs)	rs771069887
NM_000642.3(AGL):c.4456del (p.Ser1486fs)	rs113994134
NM_000642.3(AGL):c.535_538del (p.Leu179fs)	rs794727706

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