ClinVar Miner

List of variants studied for blood platelet disease by Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital

Included ClinVar conditions (105):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_014915.3(ANKRD26):c.2260A>T (p.Lys754Ter) rs767240266 0.00006
NM_001001547.2:c.(?_-183)_(120_?)del
NM_001001548.3(CD36):c.667_671dup (p.Ala225fs) rs748431584
NM_002473.6(MYH9):c.1306G>A (p.Ala436Thr) rs770360786
NM_005373.3(MPL):c.317C>T (p.Pro106Leu) rs750046020
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627

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