ClinVar Miner

List of variants reported as pathogenic for anemia (disease) by Bone Marrow Failure laboratory,Queen Mary University London

Included ClinVar conditions (262):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_002582.3(PARN):c.[659+4_659+7delAGTA(;)863dupA]
NM_002582.4(PARN):c.1148C>T (p.Ala383Val) rs786200999
NM_002582.4(PARN):c.918+1G>T rs756132866

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