List of variants reported as uncertain significance for Fetal hemoglobin quantitative trait locus 1

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: 26

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000519.3(HBD):c.-60A>T	rs112372029	0.00602
NM_000518.4(HBB):c.208G>A (p.Gly70Ser)	rs33947415	0.00064
NM_000519.3(HBD):c.-62C>T	rs144322869	0.00041
NM_000518.5(HBB):c.324C>T (p.Gly108=)	rs193922562	0.00029
NM_000519.4(HBD):c.225C>T (p.Gly75=)	rs113727122	0.00024
NM_000518.5(HBB):c.246C>A (p.Leu82=)	rs145669504	0.00022
NM_000518.5(HBB):c.294C>T (p.His98=)	rs34515413	0.00022
NM_000519.4(HBD):c.*59C>G	rs755421119	0.00010
NM_000518.4(HBB):c.34G>A (p.Val12Ile)	rs33974228	0.00007
NM_000518.5(HBB):c.85C>T (p.Leu29=)	rs33958088	0.00004
NM_000519.4(HBD):c.60C>T (p.Asn20=)	rs777991732	0.00004
NM_000519.4(HBD):c.83C>A (p.Ala28Asp)	rs751533248	0.00004
NM_000518.5(HBB):c.-31C>T	rs63750628	0.00003
NM_000519.3(HBD):c.-180A>G	rs186432678	0.00003
NM_000519.4(HBD):c.*96G>T	rs1042760103	0.00002
NM_000518.5(HBB):c.*18C>A	rs1348310843	0.00001
NM_000518.5(HBB):c.*53C>A	rs886048393	0.00001
NM_000518.5(HBB):c.274C>T (p.Leu92=)	rs769583496	0.00001
NM_000519.4(HBD):c.97C>T (p.Leu33=)	rs746437742	0.00001
NM_000518.5(HBB):c.*56A>T	rs537944366
NM_000518.5(HBB):c.*59A>G	rs1345009528
NM_000518.5(HBB):c.402G>C (p.Val134=)	rs113082294
NM_000519.4(HBD):c.*65T>C	rs1847687778
NM_000519.4(HBD):c.*91G>A	rs886048394
NM_000519.4(HBD):c.6G>A (p.Val2=)	rs1454993638
NM_000519.4(HBD):c.76G>A (p.Gly26Ser)	rs886048395

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.