List of variants studied for disorder of metabolite absorption and transport by GenomeConnect - Invitae Patient Insights Network

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000410.4(HFE):c.187C>G (p.His63Asp)	rs1799945	0.10170
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)	rs1800562	0.03880
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln)	rs76151636	0.00100
NM_052845.4(MMAB):c.402G>A (p.Ser134=)	rs756766385	0.00004
NM_000052.7(ATP7A):c.4424A>G (p.Asn1475Ser)	rs782774219	0.00003
NM_000053.4(ATP7B):c.4319G>A (p.Arg1440Gln)	rs201483366	0.00001
NM_001081.4(CUBN):c.1022A>G (p.Gln341Arg)	rs149517557	0.00001
NM_000053.4(ATP7B):c.3206A>G (p.His1069Arg)	rs201738147

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.