ClinVar Miner

List of variants studied for blood platelet disease by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (105):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_005105.5(RBM8A):c.*6C>G rs12079762 0.04454
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_001382567.1(STIM1):c.1634+319G>A rs118128831 0.00808
NM_001382567.1(STIM1):c.1634+269C>G rs139558513 0.00229
NM_001382567.1(STIM1):c.1664C>T (p.Ser555Phe) rs141215990 0.00163
NM_001382567.1(STIM1):c.1634+287G>A rs562406813 0.00157
NM_005523.6(HOXA11):c.396G>C (p.Arg132Ser) rs143812636 0.00052
NM_014915.3(ANKRD26):c.1970A>T (p.Asp657Val) rs193178384 0.00027
NM_014915.3(ANKRD26):c.1635+9T>C rs199590440 0.00016
NM_001382567.1(STIM1):c.1847C>T (p.Ala616Val) rs750326949 0.00011
NM_001061.7(TBXAS1):c.1417G>T (p.Gly473Trp) rs149988492 0.00006
NM_000377.3(WAS):c.223G>A (p.Val75Met) rs782290433 0.00001
NM_001382567.1(STIM1):c.2026C>G (p.Pro676Ala) rs1164327463 0.00001
NM_000377.3(WAS):c.963AGG[1] (p.Gly323del)
NM_001061.7(TBXAS1):c.580_581del (p.Ala194fs) rs760698812

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