ClinVar Miner

List of variants in gene combination HCN3, PKLR reported as uncertain significance for anemia (disease)

Included ClinVar conditions (258):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000298.5(PKLR):c.*1041C>T rs528740550
NM_000298.5(PKLR):c.*1067T>C rs559809916
NM_000298.5(PKLR):c.*779C>A rs886045348
NM_000298.5(PKLR):c.*866T>C rs886045347
NM_000298.5(PKLR):c.*893T>G rs41264939

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