ClinVar Miner

List of variants in gene BLK reported as likely benign by PreventionGenetics, part of Exact Sciences

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Total variants: 19
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HGVS dbSNP gnomAD frequency
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.1338C>G (p.Arg446=) rs377160616 0.00073
NM_001715.3(BLK):c.1075C>T (p.Arg359Cys) rs146505280 0.00059
NM_001715.3(BLK):c.1302G>A (p.Val434=) rs145686279 0.00054
NM_001715.3(BLK):c.772+16C>T rs200129390 0.00011
NC_000008.11:g.11564614T>C
NM_001715.2(BLK):c.*500G>T rs767723868
NM_001715.3(BLK):c.1029+7G>A
NM_001715.3(BLK):c.1065T>C (p.Asn355=)
NM_001715.3(BLK):c.1313-8del
NM_001715.3(BLK):c.1464G>A (p.Ser488=)
NM_001715.3(BLK):c.351G>A (p.Glu117=)
NM_001715.3(BLK):c.473-7C>G rs200091252
NM_001715.3(BLK):c.546G>C (p.Leu182=)
NM_001715.3(BLK):c.574C>G (p.Arg192Gly)
NM_001715.3(BLK):c.72C>T (p.Ser24=)
NM_001715.3(BLK):c.759C>T (p.Gly253=)

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