ClinVar Miner

List of variants studied for anemia (disease) by Johns Hopkins Genomics,Johns Hopkins University

Included ClinVar conditions (263):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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NM_001363.5(DKC1):c.1494_1496GAA[6] (p.Lys505del) rs782576893
NM_001363.5(DKC1):c.369G>T (p.Thr123=) rs2728532
NM_018081.2(WRAP53):c.1359C>T (p.Pro453=) rs35082161
NM_018081.2(WRAP53):c.807C>T (p.Arg269=) rs35307405
NM_198253.2(TERT):c.2517G>A (p.Thr839=) rs140124989
NM_198253.2(TERT):c.2775C>T (p.His925=) rs34528119
NM_198253.2(TERT):c.604G>A (p.Ala202Thr) rs121918661
NR_001566.1(TERC):n.36C>T rs1248582778

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