ClinVar Miner

List of variants in gene BLK reported as likely benign for digestive system disorder

Included ClinVar conditions (605):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001715.3(BLK):c.211G>A (p.Ala71Thr) rs55758736 0.01485
NM_001715.3(BLK):c.177C>G (p.Asp59Glu) rs146083915 0.00891
NM_001715.3(BLK):c.102C>T (p.Asp34=) rs75383960 0.00743
NM_001715.3(BLK):c.674C>T (p.Pro225Leu) rs144592409 0.00230
NM_001715.3(BLK):c.711C>T (p.Pro237=) rs143699141 0.00174
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.223C>G (p.Arg75Gly) rs149393791 0.00057
NM_001715.3(BLK):c.1302G>A (p.Val434=) rs145686279 0.00054
NM_001715.3(BLK):c.368+13G>A rs199644751 0.00024
NM_001715.3(BLK):c.980A>T (p.Asp327Val) rs138333004 0.00024
NM_001715.3(BLK):c.93A>G (p.Gln31=) rs369109733 0.00016
NM_001715.3(BLK):c.772+16C>T rs200129390 0.00011
NM_001715.3(BLK):c.18C>T (p.Ser6=) rs113656715 0.00010
NM_001715.3(BLK):c.859G>A (p.Val287Met) rs1042687 0.00007
NM_001715.3(BLK):c.675G>A (p.Pro225=) rs761122806 0.00006
NM_001715.3(BLK):c.*371C>A rs774038408 0.00004
NM_001715.3(BLK):c.27G>A (p.Pro9=) rs536630306 0.00002
NM_001715.3(BLK):c.1371C>T (p.Pro457=) rs1356289485 0.00001
NM_001715.3(BLK):c.1021T>G (p.Ser341Ala) rs567720261
NM_001715.3(BLK):c.269+13G>C rs144839649
NM_001715.3(BLK):c.473-7C>G rs200091252
NM_001715.3(BLK):c.591G>T (p.Ser197=) rs140834602
NM_001715.3(BLK):c.617C>G (p.Ser206Cys) rs550720173
NM_001715.3(BLK):c.668C>T (p.Pro223Leu) rs202028021
NM_001715.3(BLK):c.922A>G (p.Ile308Val)

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