ClinVar Miner

List of variants reported as likely pathogenic for anemia by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (292):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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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_000186.4(CFH):c.3616C>T (p.Arg1206Cys) rs1573087364 0.00001
NM_006996.3(SLC19A2):c.1001G>A (p.Gly334Asp) rs199921604 0.00001
NM_000037.4(ANK1):c.2581dup (p.Arg861fs)
NM_000037.4(ANK1):c.3050G>C (p.Trp1017Ser)
NM_000342.4(SLC4A1):c.1199_1225del (p.Ala400_Ala408del) rs769664228
NM_000518.5(HBB):c.135del (p.Phe46fs) rs80356820

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