ClinVar Miner

List of variants reported as likely pathogenic for blood platelet disease by Bone Marrow Failure laboratory, Queen Mary University London

Included ClinVar conditions (105):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_020207.7(ERCC6L2):c.2474_2484delinsAAAG (p.Thr825fs) rs2133079257
NM_020207.7:c.[2156delG];[3300_3303delTCAA]
Single allele

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