ClinVar Miner

List of variants in gene NEXMIF reported as likely pathogenic for X-linked intellectual disability, Cantagrel type

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001008537.3(NEXMIF):c.1123del (p.Glu375fs) rs886041774
NM_001008537.3(NEXMIF):c.1275_1276delinsAT (p.Gln426Ter)
NM_001008537.3(NEXMIF):c.1882C>T (p.Arg628Ter) rs786205208
NM_001008537.3(NEXMIF):c.2091_2113del (p.Asp698fs) rs2080109236
NM_001008537.3(NEXMIF):c.3310G>T (p.Gly1104Ter) rs2147439567
NM_001008537.3(NEXMIF):c.3395_3398del (p.Asn1132fs) rs2147439499
NM_001008537.3(NEXMIF):c.3437C>A (p.Ser1146Tyr) rs2080101583
NM_001008537.3(NEXMIF):c.3539C>A (p.Ser1180Ter)
NM_001008537.3(NEXMIF):c.3592A>T (p.Lys1198Ter) rs2147439364
NM_001008537.3(NEXMIF):c.3859A>T (p.Lys1287Ter)
NM_001008537.3(NEXMIF):c.67del (p.Val23fs) rs2147442619
NM_001008537.3(NEXMIF):c.791_792del (p.Phe264fs) rs2080116462

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.