ClinVar Miner

List of variants reported as uncertain significance for anemia, nonspherocytic hemolytic

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
Download table as spreadsheet
HGVS dbSNP
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) rs137852339
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) rs5030869
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe) rs137852342
NM_000402.4(G6PD):c.185A>G (p.His62Arg) rs137852340
NM_000402.4(G6PD):c.221C>G (p.Ala74Gly) rs78478128
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr) rs76645461
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829
NM_000402.4(G6PD):c.482G>T (p.Gly161Val) rs137852341
NM_000402.4(G6PD):c.556G>A (p.Glu186Lys) rs137852313
NM_000402.4(G6PD):c.682C>T (p.Arg228Cys) rs137852330
NM_000402.4(G6PD):c.727G>T (p.Val243Leu) rs137852326
NM_001360016.2(G6PD):c.1021G>A (p.Val341Ile) rs782174983
NM_001360016.2(G6PD):c.1187C>T (p.Pro396Leu) rs1557229683
NM_001360016.2(G6PD):c.1243C>T (p.Pro415Ser) rs1603411292
NM_001360016.2(G6PD):c.193A>G (p.Thr65Ala) rs199474830
NM_001360016.2(G6PD):c.383T>G (p.Leu128Arg)
NM_001360016.2(G6PD):c.574C>T (p.Arg192Cys) rs1557230370
NM_001360016.2(G6PD):c.660C>G (p.Ile220Met) rs782771682
NM_001360016.2(G6PD):c.697G>A (p.Val233Ile)
NM_001360016.2(G6PD):c.775G>A (p.Val259Met)
NM_001360016.2(G6PD):c.813G>A (p.Val271=)
NM_001360016.2(G6PD):c.864+5G>A rs372876649
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro) rs76723693

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.