ClinVar Miner

List of variants studied for congenital nonspherocytic hemolytic anemia by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000175.5(GPI):c.489A>G (p.Gly163=) rs1801015 0.14862
NM_000175.5(GPI):c.762G>A (p.Lys254=) rs1864139 0.09803
NM_000175.5(GPI):c.122+20G>A rs8191360 0.02067
NM_000175.5(GPI):c.948C>A (p.Ala316=) rs8191416 0.01510
NM_000175.5(GPI):c.623T>C (p.Ile208Thr) rs8191371 0.01437
NM_000175.5(GPI):c.907A>C (p.Met303Leu) rs143733383 0.00202
NM_001184722.1(GPI):c.7G>A (p.Ala3Thr) rs549433538 0.00139
NM_000175.5(GPI):c.987C>T (p.Asn329=) rs140676743 0.00123
NM_000175.5(GPI):c.317G>A (p.Arg106Gln) rs143827313 0.00029
NM_000175.5(GPI):c.1497C>T (p.Phe499=) rs138799755 0.00023
NM_000175.5(GPI):c.1270-9G>A rs191051353 0.00018
NM_000175.5(GPI):c.1325C>T (p.Thr442Met) rs758328180 0.00006
NM_000175.5(GPI):c.1039C>T (p.Arg347Cys) rs758132799 0.00004
NM_000175.5(GPI):c.286C>T (p.Arg96Ter) rs781245249 0.00004
NM_000175.5(GPI):c.-9A>G rs552574934 0.00003
NM_000175.5(GPI):c.475G>A (p.Gly159Ser) rs137853582 0.00003
NM_000175.5(GPI):c.1009G>A (p.Ala337Thr) rs1238884216 0.00001
NM_000175.5(GPI):c.572A>G (p.His191Arg) rs758281551 0.00001
NM_000175.5(GPI):c.1040G>A (p.Arg347His) rs137853583
NM_000175.5(GPI):c.1063-13G>C
NM_000175.5(GPI):c.1143G>C (p.Gly381=) rs1214297048
NM_000175.5(GPI):c.1144G>T (p.Glu382Ter) rs2074944986
NM_000175.5(GPI):c.1356G>C (p.Ala452=) rs34604585
NM_000175.5(GPI):c.1366C>G (p.Pro456Ala)
NM_000175.5(GPI):c.16C>T (p.Arg6Trp)
NM_000175.5(GPI):c.241C>T (p.Arg81Trp)
NM_000175.5(GPI):c.487-14A>G
NM_000175.5(GPI):c.603C>G (p.Pro201=) rs1062480
NM_000175.5(GPI):c.751-5del rs375313737
NM_000175.5(GPI):c.751-5dup rs375313737

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.