List of variants reported as likely pathogenic by Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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_032885.6(ATG4D):c.266G>A (p.Ser89Asn)	rs200278873	0.00075
NM_020198.3(CCDC47):c.1145del (p.Leu382fs)	rs750123815	0.00003
NM_001364857.2(ADGRB2):c.4393C>T (p.Arg1465Trp)	rs778361520	0.00002
NM_006302.3(MOGS):c.329G>A (p.Arg110His)	rs863225089	0.00001
NM_020198.3(CCDC47):c.1189C>T (p.Arg397Ter)	rs1269750663	0.00001
NM_020198.3(CCDC47):c.811C>T (p.Arg271Ter)	rs749027804	0.00001
NM_001046.3(SLC12A2):c.3076_3086del (p.Val1026fs)	rs886040968
NM_014023.4(WDR37):c.356C>T (p.Ser119Phe)	rs1589088690
NM_014023.4(WDR37):c.374C>T (p.Thr125Ile)	rs1554823375
NM_014023.4(WDR37):c.386C>G (p.Ser129Cys)	rs1589088702
NM_014023.4(WDR37):c.389C>T (p.Thr130Ile)	rs1589088703
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys)	rs1555582065
NM_020198.3(CCDC47):c.1165del (p.Ser389fs)	rs1568246398

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.