ClinVar Miner

List of variants in gene B3GAT3 reported as benign for bone disorder

Included ClinVar conditions (1350):
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_012200.4(B3GAT3):c.258-50A>G rs4963224 0.99405
NM_012200.4(B3GAT3):c.821C>A (p.Thr274Asn) rs112223093 0.00560
NM_012200.4(B3GAT3):c.909+263del rs753764477 0.00129
NM_012200.4(B3GAT3):c.709G>A (p.Val237Met) rs140378202 0.00106
NM_012200.4(B3GAT3):c.108C>T (p.Pro36=) rs75316688 0.00056
NM_012200.4(B3GAT3):c.909+263C>G rs12794886

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