List of variants in gene combination HBA1, LOC106804613 reported as pathogenic for Erythrocytosis, familial, 7

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: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000558.3(HBA1):c.134C>T (p.Pro45Leu)	rs33978134
NM_000558.3(HBA1):c.20A>G (p.Asp7Gly)	rs33986902
NM_000558.3(HBA1):c.278G>A (p.Arg93Gln)	rs33991779
NM_000558.3(HBA1):c.278G>T (p.Arg93Leu)	rs33991779
NM_000558.3(HBA1):c.424C>T (p.Arg142Cys)	rs33991910
NM_000558.3(HBA1):c.425G>A (p.Arg142His)	rs33935328
NM_000558.3(HBA1):c.425G>T (p.Arg142Leu)	rs33935328
NM_000558.5(HBA1):c.265G>T (p.Ala89Ser)	rs35239527
NM_000558.5(HBA1):c.379G>C (p.Asp127His)	rs63750950
NM_000558.5(HBA1):c.421T>C (p.Tyr141His)	rs35723200
NM_000558.5(HBA1):c.45G>A (p.Trp15Ter)	rs1596573335

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.