List of variants in gene ABCB6 studied for porphyria

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005689.4(ABCB6):c.1028G>A (p.Arg343Gln)	rs60322991	0.04800
NM_005689.4(ABCB6):c.826C>T (p.Arg276Trp)	rs57467915	0.00979
NM_005689.4(ABCB6):c.1562C>G (p.Thr521Ser)	rs149363094	0.00792
NM_005689.4(ABCB6):c.1474G>A (p.Ala492Thr)	rs147445258	0.00672
NM_005689.4(ABCB6):c.1762G>A (p.Gly588Ser)	rs145526996	0.00431
NM_005689.4(ABCB6):c.575G>A (p.Arg192Gln)	rs150221689	0.00303
NM_005689.4(ABCB6):c.574C>T (p.Arg192Trp)	rs149202834	0.00166
NM_005689.4(ABCB6):c.739C>T (p.Arg247Cys)	rs190528998	0.00115
NM_005689.4(ABCB6):c.2185G>A (p.Gly729Ser)	rs541845688	0.00001

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.