ClinVar Miner

List of variants in gene combination HCN3, PKLR reported as uncertain significance for anemia due to enzyme disorder

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_020897.3(HCN3):c.*1216A>C rs41264939 0.00637
NM_020897.3(HCN3):c.*1042A>G rs559809916 0.00122
NM_020897.3(HCN3):c.*1243A>G rs886045347 0.00019
NM_020897.3(HCN3):c.*1374T>C rs180944719 0.00014
NM_020897.3(HCN3):c.*1068G>A rs528740550 0.00013
NM_020897.3(HCN3):c.*1004C>T rs937795186 0.00003
NM_020897.3(HCN3):c.*1330G>T rs886045348 0.00001
NM_020897.3(HCN3):c.*832C>T rs917244300 0.00001
NM_020897.3(HCN3):c.*1354A>G rs1674455124

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