ClinVar Miner

List of variants studied for blood platelet disease by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

Included ClinVar conditions (105):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
GRCh38/hg38 1q21.1(chr1:145822587-146064587)x1
NM_004991.4(MECOM):c.2772-4A>G
NM_004991.4(MECOM):c.2812C>T (p.Arg938Trp) rs864309724
NM_015175.3(NBEAL2):c.3773_3774insCAGCGTTCGCCTC (p.Asp1259fs)

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