ClinVar Miner

List of variants in gene TBL1XR1 reported as uncertain significance for Inborn genetic diseases

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_024665.7(TBL1XR1):c.343G>A (p.Ala115Thr) rs375411293 0.00022
NM_024665.7(TBL1XR1):c.346G>T (p.Ala116Ser) rs372813783 0.00006
NM_024665.7(TBL1XR1):c.1291C>G (p.Arg431Gly) rs755371824 0.00001
NM_024665.7(TBL1XR1):c.1217C>G (p.Thr406Ser) rs1020225336
NM_024665.7(TBL1XR1):c.130G>A (p.Val44Ile) rs1553817638
NM_024665.7(TBL1XR1):c.1373C>A (p.Ala458Glu) rs1714225458
NM_024665.7(TBL1XR1):c.1454G>A (p.Gly485Glu) rs1713136217
NM_024665.7(TBL1XR1):c.436A>G (p.Thr146Ala)
NM_024665.7(TBL1XR1):c.542G>C (p.Ser181Thr)
NM_024665.7(TBL1XR1):c.595A>C (p.Ser199Arg)
NM_024665.7(TBL1XR1):c.689C>T (p.Ser230Phe) rs1553815393

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