List of variants in gene AGRN reported as likely pathogenic for Congenital myasthenic syndrome 8

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: 19

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_198576.4(AGRN):c.1798+1G>T	rs746488526	0.00003
NM_198576.4(AGRN):c.5012G>A (p.Arg1671Gln)	rs769667244	0.00002
NM_198576.4(AGRN):c.2371+1G>T	rs753588255	0.00001
NM_198576.4(AGRN):c.3250+1G>A	rs759853904	0.00001
NM_198576.4(AGRN):c.464-2A>G	rs1332051427	0.00001
NM_198576.4(AGRN):c.5023G>A (p.Gly1675Ser)	rs764160563	0.00001
NM_198576.4(AGRN):c.1177+4_1177+50del	rs765679438
NM_198576.4(AGRN):c.1799-1G>A	rs2522691806
NM_198576.4(AGRN):c.3632-1G>C	rs771677426
NM_198576.4(AGRN):c.3632-2del	rs2522742297
NM_198576.4(AGRN):c.4745-47_4753del	rs1570242061
NM_198576.4(AGRN):c.4922dup (p.Asn1641fs)	rs2100682020
NM_198576.4(AGRN):c.5011C>T (p.Arg1671Ter)	rs745827541
NM_198576.4(AGRN):c.5254-1_5261del	rs2522799460
NM_198576.4(AGRN):c.5276T>C (p.Leu1759Pro)	rs1557721600
NM_198576.4(AGRN):c.5302G>A (p.Ala1768Thr)
NM_198576.4(AGRN):c.5876+1G>A	rs532386334
NM_198576.4(AGRN):c.6057_6060delinsT (p.Val2022del)
NM_198576.4(AGRN):c.952+1_952+3del	rs1644932281

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.