ClinVar Miner

List of variants in gene CFH reported as uncertain significance for anemia (disease)

Included ClinVar conditions (263):
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Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_000186.3(CFH):c.*14G>A rs463726
NM_000186.3(CFH):c.-175T>C rs762143457
NM_000186.3(CFH):c.-61A>G rs886045741
NM_000186.3(CFH):c.103G>A (p.Gly35Ser) rs886045742
NM_000186.3(CFH):c.1336+4A>G
NM_000186.3(CFH):c.2215A>G (p.Thr739Ala) rs886045745
NM_000186.3(CFH):c.2461C>T (p.His821Tyr) rs367687415
NM_000186.3(CFH):c.2542G>A (p.Gly848Arg) rs886045746
NM_000186.3(CFH):c.275C>T (p.Pro92Leu) rs886045743
NM_000186.3(CFH):c.2784C>A (p.Gly928=) rs755926856
NM_000186.3(CFH):c.285T>C (p.Thr95=) rs148182625
NM_000186.3(CFH):c.3004G>C (p.Gly1002Arg) rs201816520
NM_000186.3(CFH):c.3134-7T>C rs779166622
NM_000186.3(CFH):c.3310+12T>C rs757045842
NM_000186.3(CFH):c.428-3C>T rs886045744
NM_000186.3(CFH):c.481G>T (p.Ala161Ser) rs777300338
NM_000186.3(CFH):c.59-10T>G

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