List of variants reported as pathogenic for hematologic disorder by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs)	rs80356491	0.00026
NM_000518.5(HBB):c.92+1G>A	rs33971440	0.00005
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs)	rs386834055	0.00001
NM_000132.4(F8):c.4072C>T (p.Gln1358Ter)
NM_000377.3(WAS):c.1271dup (p.Leu425fs)	rs1557007312
NM_000402.4(G6PD):c.221C>G (p.Ala74Gly)	rs78478128
NM_000969.5(RPL5):c.169_172del (p.Asn57fs)	rs1558284033
NM_001022.4(RPS19):c.367_368dup (p.Leu123_Thr124insTer)	rs1568796003
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys)	rs397518423
NM_005476.7(GNE):c.2086G>A (p.Val696Met)	rs121908627
NM_005476.7(GNE):c.397_398dup (p.Glu134fs)	rs1829869628
NM_005476.7(GNE):c.4G>T (p.Glu2Ter)	rs886044514
NM_005476.7(GNE):c.[2086G>A];[385C>T]

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.