ClinVar Miner

List of variants in gene BLK reported as benign by Illumina Laboratory Services, Illumina

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Gene type:
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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001715.3(BLK):c.843T>C (p.Phe281=) rs2306234 0.81190
NM_001715.3(BLK):c.330T>C (p.Ser110=) rs3816668 0.49161
NM_001715.3(BLK):c.*176C>T rs1042689 0.42891
NM_001715.3(BLK):c.*428G>A rs1042701 0.34826
NM_001715.3(BLK):c.*92G>C rs14053 0.04621
NM_001715.3(BLK):c.258G>A (p.Gln86=) rs56185487 0.02041
NM_001715.3(BLK):c.211G>A (p.Ala71Thr) rs55758736 0.01485
NM_001715.3(BLK):c.102C>T (p.Asp34=) rs75383960 0.00743
NM_001715.3(BLK):c.753A>G (p.Gln251=) rs76563369 0.00416
NM_001715.3(BLK):c.*338T>G rs1042695 0.00399
NM_001715.3(BLK):c.187G>A (p.Val63Met) rs138972988 0.00302
NM_001715.3(BLK):c.713G>A (p.Arg238Gln) rs141865425 0.00300
NM_001715.3(BLK):c.116C>T (p.Pro39Leu) rs142352008 0.00222
NM_001715.3(BLK):c.974A>C (p.Lys325Thr) rs77401687 0.00117
NM_001715.3(BLK):c.*444C>A rs376203568 0.00034
NM_001715.3(BLK):c.879C>T (p.His293=) rs142623841 0.00034
NM_001715.3(BLK):c.1349G>A (p.Arg450His) rs202162624 0.00022
NM_001715.3(BLK):c.*348C>G rs564964151 0.00006
NM_001715.3(BLK):c.1057C>T (p.Arg353Cys) rs199696853 0.00006
NM_001715.3(BLK):c.672C>T (p.Ala224=) rs201252364 0.00004
NM_001715.3(BLK):c.1021T>G (p.Ser341Ala) rs567720261
NM_001715.3(BLK):c.39G>A (p.Lys13=) rs142129056

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