ClinVar Miner

List of variants in gene combination B3GALNT2, TBCE reported as uncertain significance for bone disorder

Included ClinVar conditions (1436):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_003193.5(TBCE):c.1577G>A (p.Arg526Gln) rs140662460 0.00095
NM_003193.5(TBCE):c.1465C>A (p.Leu489Ile) rs143917509 0.00064
NM_003193.5(TBCE):c.*39G>A rs373300985 0.00013
NM_003193.5(TBCE):c.*177T>C rs886046153 0.00001
NM_003193.5(TBCE):c.*17T>C rs773370448 0.00001
NM_003193.5(TBCE):c.*208G>A rs1218893081 0.00001
NM_003193.5(TBCE):c.*132A>G rs1682693904
NM_003193.5(TBCE):c.*133T>G rs1455426794
NM_003193.5(TBCE):c.*60_*62dup rs886046152
NM_003193.5(TBCE):c.1491_1491+4dup rs746593718

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