List of variants reported as uncertain significance for Aspartylglucosaminuria by Natera, Inc.

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 26

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000027.4(AGA):c.*8T>C	rs112307209	0.00255
NM_000027.4(AGA):c.376C>G (p.Leu126Val)	rs200420067	0.00078
NM_000027.4(AGA):c.885G>A (p.Lys295=)	rs34019119	0.00037
NM_000027.4(AGA):c.792G>A (p.Met264Ile)	rs369967348	0.00034
NM_000027.4(AGA):c.979A>G (p.Ser327Gly)	rs369035792	0.00029
NM_000027.4(AGA):c.793C>T (p.Arg265Cys)	rs146710132	0.00014
NM_000027.4(AGA):c.941-5C>T	rs377622082	0.00014
NM_000027.4(AGA):c.523C>T (p.Pro175Ser)	rs367968495	0.00006
NM_000027.4(AGA):c.794G>A (p.Arg265His)	rs375663828	0.00006
NM_000027.4(AGA):c.24T>C (p.Pro8=)	rs34413111	0.00004
NM_000027.4(AGA):c.538G>A (p.Gly180Arg)	rs373865451	0.00004
NM_000027.4(AGA):c.854C>T (p.Ala285Val)	rs763018918	0.00003
NM_000027.4(AGA):c.987G>C (p.Met329Ile)	rs774051527	0.00002
NM_000027.4(AGA):c.1030G>C (p.Asp344His)	rs776865078	0.00001
NM_000027.4(AGA):c.28C>G (p.Leu10Val)	rs753394137	0.00001
NM_000027.4(AGA):c.390G>C (p.Glu130Asp)	rs770240412	0.00001
NM_000027.4(AGA):c.776A>G (p.Asn259Ser)	rs1306999394	0.00001
NM_000027.4(AGA):c.*3C>T	rs1736640740
NM_000027.4(AGA):c.128-7dup	rs1736960600
NM_000027.4(AGA):c.224T>C (p.Phe75Ser)	rs757065230
NM_000027.4(AGA):c.308G>A (p.Gly103Glu)	rs1736932419
NM_000027.4(AGA):c.334A>G (p.Ile112Val)	rs925345330
NM_000027.4(AGA):c.34G>C (p.Val12Leu)	rs74626221
NM_000027.4(AGA):c.585T>C (p.His195=)	rs1736860088
NM_000027.4(AGA):c.833GAG[1] (p.Gly279del)	rs764622951
NM_000027.4(AGA):c.978T>G (p.Phe326Leu)	rs373878347

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.