ClinVar Miner

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

Included ClinVar conditions (1350):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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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.1112C>T (p.Pro371Leu) rs749373395 0.00006
NM_004608.4(TBX6):c.700G>C (p.Gly234Arg) rs376817900 0.00004
NM_004608.4(TBX6):c.499C>T (p.Arg167Cys) rs760006939 0.00001
NM_004608.4(TBX6):c.1174G>T (p.Gly392Trp) rs773515679
NM_004608.4(TBX6):c.1184G>A (p.Gly395Asp) rs1596847759
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.1300C>T (p.Pro434Ser) rs1200121314
NM_004608.4(TBX6):c.373C>T (p.Arg125Ter)
NM_004608.4(TBX6):c.440A>T (p.Asp147Val) rs1596853022
NM_004608.4(TBX6):c.448C>A (p.Arg150Ser)
NM_004608.4(TBX6):c.929C>T (p.Pro310Leu) rs1596848757

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