ClinVar Miner

List of variants studied for familial hemolytic anemia by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_001358263.1(HK1):c.75+20082A>G rs187500777 0.00198
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000298.6(PKLR):c.1594C>T (p.Arg532Trp) rs201255024 0.00001
NM_000037.4(ANK1):c.2581dup (p.Arg861fs)
NM_000037.4(ANK1):c.3050G>C (p.Trp1017Ser)
NM_000037.4(ANK1):c.382_386del (p.Lys128fs) rs2150661824
NM_000188.3(HK1):c.2498T>C (p.Leu833Pro)
NM_000342.3(SLC4A1):c.2279G>A (p.Arg760Gln) rs121912755
NM_000342.4(SLC4A1):c.1199_1225del (p.Ala400_Ala408del) rs769664228
NM_001142864.4(PIEZO1):c.2860C>T (p.Arg954Trp) rs765257824
NM_001355436.2(SPTB):c.413T>C (p.Ile138Thr) rs2082930394
NM_001355436.2(SPTB):c.5113_5553+672del
NM_003126.4(SPTA1):c.5219A>G (p.Asp1740Gly) rs1651109720
NM_003126.4:c.2899-50_4338+50del
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys) rs80359818
NM_138477.4(CDAN1):c.2029C>T (p.Arg677Trp)
NM_138477.4(CDAN1):c.2110G>A (p.Asp704Asn)

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.