List of variants reported as not provided for hematologic disorder by GenomeConnect - Brain Gene Registry

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: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000518.5(HBB):c.20A>T (p.Glu7Val)	rs334	0.01298
NM_000631.5(NCF4):c.647C>T (p.Thr216Met)	rs146911421	0.00064
NM_019616.4(F7):c.142C>T (p.Pro48Ser)	rs373376565	0.00050
NM_000377.3(WAS):c.1090C>T (p.Arg364Ter)	rs2062429013
NM_005219.5(DIAPH1):c.1963C>G (p.Pro655Ala)	rs201827139
NM_019616.4(F7):c.364+14T>G
NM_020070.4(IGLL1):c.258del (p.Gln88fs)	rs532338576
NM_206965.2(FTCD):c.990dup (p.Pro331fs)	rs398124234

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.