List of variants in gene combination GLA, RPL36A-HNRNPH2 reported as likely benign by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr)	rs28935490	0.00308
NM_000169.3(GLA):c.376A>G (p.Ser126Gly)	rs149391489	0.00043
NM_000169.3(GLA):c.129C>T (p.Gly43=)	rs146177035	0.00018
NM_000169.3(GLA):c.48T>G (p.Leu16=)	rs201449986	0.00011
NM_000169.3(GLA):c.945C>T (p.Asp315=)	rs151208856	0.00009
NM_000169.3(GLA):c.1000-14T>C	rs397515868	0.00004
NM_000169.3(GLA):c.714T>C (p.Ser238=)	rs397515872	0.00003
NM_000169.3(GLA):c.320A>G (p.Gln107Arg)	rs727505060	0.00002
NM_000169.3(GLA):c.1153A>G (p.Thr385Ala)	rs397515869	0.00001
NM_000169.3(GLA):c.801+14C>T	rs200744672	0.00001
NM_000169.3(GLA):c.194+14G>C	rs876657469
NM_000169.3(GLA):c.28C>T (p.Leu10=)	rs727503073
NM_000169.3(GLA):c.630C>T (p.Pro210=)	rs727503071

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.