ClinVar Miner

List of variants studied for anemia by Center for Molecular Medicine, Children’s Hospital of Fudan University

Included ClinVar conditions (292):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001142864.4(PIEZO1):c.3197A>G (p.Asp1066Gly) rs1904552378 0.00001
NM_001142864.4(PIEZO1):c.3191G>T (p.Cys1064Phe) rs1904821405

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