ClinVar Miner

List of variants in gene B4GAT1 reported as benign for muscular dystrophy-dystroglycanopathy, type A

Included ClinVar conditions (35):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_006876.3(B4GAT1):c.117G>A (p.Gln39=) rs11537930 0.12566
NM_006876.3(B4GAT1):c.828G>T (p.Val276=) rs142956522 0.00291
NM_006876.3(B4GAT1):c.987C>T (p.Tyr329=) rs1190625 0.00264
NM_006876.3(B4GAT1):c.1161G>A (p.Glu387=) rs139287952 0.00106
NM_006876.3(B4GAT1):c.1146C>G (p.Phe382Leu) rs143223962 0.00041
NM_006876.3(B4GAT1):c.196G>A (p.Ala66Thr) rs765114036 0.00010

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