ClinVar Miner

List of variants in gene BLK reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (961):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_001715.3(BLK):c.1048T>C (p.Tyr350His) rs758750492
NM_001715.3(BLK):c.1075C>T (p.Arg359Cys) rs146505280
NM_001715.3(BLK):c.391C>T (p.Arg131Trp) rs73663163
NM_001715.3(BLK):c.713G>A (p.Arg238Gln) rs141865425
NM_001715.3(BLK):c.919C>G (p.Pro307Ala) rs1307379746

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