List of variants in gene combination LOC126863207, MID1 reported as likely pathogenic for X-linked Opitz G/BBB syndrome

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: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000381.4(MID1):c.1688dup (p.Lys564fs)
NM_000381.4(MID1):c.1725G>A (p.Trp575Ter)	rs1556001968
NM_000381.4(MID1):c.1798del (p.His600fs)
NM_000381.4(MID1):c.1814G>T (p.Gly605Val)
NM_000381.4(MID1):c.1863_1879dup (p.Tyr627Ter)	rs2147252384
NM_000381.4(MID1):c.1881C>A (p.Tyr627Ter)	rs1556001856
NM_000381.4(MID1):c.1924A>C (p.Thr642Pro)	rs2147252300

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.