ClinVar Miner

List of variants reported as benign for anemia, nonspherocytic hemolytic, due to G6PD deficiency by Invitae

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001360016.2(G6PD):c.*357= rs1050757 0.36655
G6PD:c.1455-13T>C rs2071429 0.36538
NM_001360016.2(G6PD):c.1116G>A (p.Gln372=) rs2230036 0.03373
NM_001360016.2(G6PD):c.1431C>T (p.Pro477=) rs77214077 0.02424
NM_001360016.2(G6PD):c.645-17C>T rs5986875 0.00915
NM_001360016.2(G6PD):c.1458-13C>G rs371772243 0.00093
NM_001360016.2(G6PD):c.311G>A (p.Arg104His) rs181277621 0.00081
NM_001360016.2(G6PD):c.1245C>T (p.Pro415=) rs147131392 0.00062
NM_001360016.2(G6PD):c.486-14C>T rs200833520 0.00020
NM_001360016.2(G6PD):c.864+17A>T rs377041776 0.00019
NM_001360016.2(G6PD):c.381C>T (p.Ala127=) rs781997962 0.00017
NM_001360016.2(G6PD):c.519C>T (p.Phe173=) rs200111236 0.00010
NM_001360016.2(G6PD):c.120+7A>C rs369904290 0.00008
NM_001360016.2(G6PD):c.690C>T (p.Ile230=) rs781917123 0.00005
NM_001360016.2(G6PD):c.477G>C (p.Met159Ile) rs370918918 0.00002
NM_001360016.2(G6PD):c.1288-14TC[2] rs199586268
NM_001360016.2(G6PD):c.1311= (p.Tyr437=) rs2230037
NM_001360016.2(G6PD):c.1311T>C (p.Tyr437=) rs2230037
NM_001360016.2(G6PD):c.1398C>T (p.Thr466=) rs398123547
NM_001360016.2(G6PD):c.486-34del rs3216174
NM_001360016.2(G6PD):c.645-8_645-5del rs782160396

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.