List of variants studied for Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome by Institute of Human Genetics, University of Leipzig Medical Center

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 18

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_007118.4(TRIO):c.1035T>G (p.Phe345Leu)	rs1736873932
NM_007118.4(TRIO):c.1368G>A (p.Lys456=)
NM_007118.4(TRIO):c.1644G>T (p.Gln548His)	rs1739405858
NM_007118.4(TRIO):c.298C>T (p.Arg100Ter)
NM_007118.4(TRIO):c.298del (p.Arg100fs)	rs1735893497
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp)
NM_007118.4(TRIO):c.3571C>T (p.Gln1191Ter)
NM_007118.4(TRIO):c.3657dup (p.Cys1220fs)	rs1554068529
NM_007118.4(TRIO):c.4283G>A (p.Arg1428Gln)	rs879255626
NM_007118.4(TRIO):c.4394A>G (p.Asn1465Ser)	rs1747669042
NM_007118.4(TRIO):c.4535T>C (p.Phe1512Ser)	rs1747843990
NM_007118.4(TRIO):c.5239C>T (p.Pro1747Ser)	rs1053063993
NM_007118.4(TRIO):c.5491_5496+12del
NM_007118.4(TRIO):c.6083_6084insT (p.Phe2029fs)
NM_007118.4(TRIO):c.6153+1G>A	rs1755124330
NM_007118.4(TRIO):c.651_652del (p.Arg217fs)	rs1736840999
NM_007118.4(TRIO):c.6554_6557del (p.Glu2185fs)	rs2126611738
NM_007118.4(TRIO):c.6836-6T>C	rs1364924645

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.