ClinVar Miner

List of variants in gene TBX6 reported as uncertain significance for bone development disease

Included ClinVar conditions (588):
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_004608.4(TBX6):c.-49+34G>T rs3809627 0.40816
NM_004608.4(TBX6):c.354-762T>C rs115865007 0.00631
NM_004608.4(TBX6):c.699G>C (p.Trp233Cys) rs61738521 0.00048
NM_004608.4(TBX6):c.1174G>T (p.Gly392Trp) rs773515679
NM_004608.4(TBX6):c.1277G>T (p.Gly426Val) rs764233509
NM_004608.4(TBX6):c.1278C>T (p.Gly426=) rs577918214
NM_004608.4(TBX6):c.373C>T (p.Arg125Ter)
NM_004608.4(TBX6):c.448C>A (p.Arg150Ser)
NM_004608.4(TBX6):c.448C>T (p.Arg150Cys)
NM_004608.4(TBX6):c.581G>A (p.Arg194His)

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