ClinVar Miner

List of variants in gene ALDOA, LOC112694756 studied for anemia due to erythrocyte enzyme disorder

Included ClinVar conditions (17):
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Total variants: 27
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HGVS dbSNP
NC_000016.9:g.(?_30066083)_(30081533_?)dup
NM_184041.2(ALDOA):c.379+17delT rs886051891
NM_184041.4(ALDOA):c.*101G>A rs539833998
NM_184041.4(ALDOA):c.*136C>T rs191226606
NM_184041.4(ALDOA):c.*72T>G rs886051895
NM_184041.4(ALDOA):c.*76C>T rs886051896
NM_184041.4(ALDOA):c.*96C>T rs886051897
NM_184041.4(ALDOA):c.1038C>T (p.Ser346=) rs77290575
NM_184041.4(ALDOA):c.1039G>A (p.Gly347Ser) rs138824667
NM_184041.4(ALDOA):c.113-5C>T rs752764982
NM_184041.4(ALDOA):c.150G>A (p.Glu50=) rs779556052
NM_184041.4(ALDOA):c.202G>C (p.Asp68His) rs201468609
NM_184041.4(ALDOA):c.249A>G (p.Thr83=) rs76767223
NM_184041.4(ALDOA):c.275G>A (p.Arg92His) rs747482925
NM_184041.4(ALDOA):c.386A>G (p.Asp129Gly) rs121909533
NM_184041.4(ALDOA):c.477C>G (p.Pro159=) rs758499704
NM_184041.4(ALDOA):c.497A>G (p.Glu166Gly) rs886051892
NM_184041.4(ALDOA):c.57C>T (p.Ile19=) rs773402743
NM_184041.4(ALDOA):c.619G>A (p.Glu207Lys) rs121909534
NM_184041.4(ALDOA):c.61C>T (p.His21Tyr) rs766734350
NM_184041.4(ALDOA):c.64C>T (p.Arg22Cys) rs145582724
NM_184041.4(ALDOA):c.748G>A (p.Ala250Thr) rs886051893
NM_184041.4(ALDOA):c.760G>A (p.Val254Ile) rs142759891
NM_184041.4(ALDOA):c.906C>T (p.Tyr302=) rs200761497
NM_184041.4(ALDOA):c.945C>T (p.Gly315=) rs142315181
NM_184041.4(ALDOA):c.958A>T (p.Asn320Tyr) rs886051894
NM_184041.4(ALDOA):c.972G>A (p.Ala324=) rs530089317

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