ClinVar Miner

List of variants reported as pathogenic for anemia by Unidade de Eritropatologia e Metabolismo do Ferro, Centro Hospitalar e Universitário de Coimbra

Included ClinVar conditions (280):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000184.3(HBG2):c.85C>A (p.Leu29Met) rs1278163109
NM_001142864.4(PIEZO1):c.2005G>T (p.Asp669Tyr) rs1597457977

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