ClinVar Miner

List of variants studied for blood coagulation disease by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

Included ClinVar conditions (155):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000377.3(WAS):c.413G>A (p.Arg138Gln) rs139265251 0.00073
NM_001754.5(RUNX1):c.1062C>G (p.Thr354=) rs748629722 0.00010
NM_001987.5(ETV6):c.605G>A (p.Arg202Gln) rs200351280 0.00009
NM_001754.5(RUNX1):c.749G>A (p.Arg250His) rs771614642 0.00005
NM_001754.5(RUNX1):c.667G>A (p.Glu223Lys) rs878854468 0.00002
NM_001754.5(RUNX1):c.1243C>T (p.Gln415Ter) rs1397702481 0.00001
NM_001754.5(RUNX1):c.1271C>T (p.Ser424Leu) rs1476276192 0.00001
NM_003664.5(AP3B1):c.1946G>A (p.Arg649Gln) rs748191084 0.00001
NM_001754.5(RUNX1):c.1054G>A (p.Ala352Thr) rs1397164331
NM_001987.5(ETV6):c.1063G>A (p.Glu355Lys)
NM_001987.5(ETV6):c.1113_1120delinsCCCCCCAC (p.Asp372_Asn374delinsProProHis) rs2136596195
NM_001987.5(ETV6):c.1196G>A (p.Arg399His) rs2136602321
NM_001987.5(ETV6):c.527T>C (p.Ile176Thr)
NM_001987.5(ETV6):c.641C>T (p.Pro214Leu) rs724159947
NM_001987.5(ETV6):c.754C>T (p.His252Tyr)

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