ClinVar Miner

List of variants in gene TBL1XR1 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_024665.7(TBL1XR1):c.669A>G (p.Pro223=) rs61750378 0.00631
NM_024665.7(TBL1XR1):c.291A>G (p.Gln97=) rs61750379 0.00455
NM_024665.7(TBL1XR1):c.343G>A (p.Ala115Thr) rs375411293 0.00022
NM_024665.7(TBL1XR1):c.90A>C (p.Ile30=) rs201359736 0.00009
NM_024665.7(TBL1XR1):c.346G>T (p.Ala116Ser) rs372813783 0.00006
NM_024665.7(TBL1XR1):c.660A>G (p.Gln220=) rs746245898 0.00003
NM_024665.7(TBL1XR1):c.1545G>A (p.Ter515=) rs371553222 0.00001
GRCh37/hg19 3q26.32(chr3:176895307-177090616)x3
NM_024665.7(TBL1XR1):c.1150G>T (p.Val384Phe)
NM_024665.7(TBL1XR1):c.1336T>A (p.Tyr446Asn) rs1553808301
NM_024665.7(TBL1XR1):c.139G>A (p.Ala47Thr) rs1253058954
NM_024665.7(TBL1XR1):c.1416+8T>G rs1714220345
NM_024665.7(TBL1XR1):c.1417-7C>G rs761210577
NM_024665.7(TBL1XR1):c.1481C>T (p.Ala494Val) rs1450565910
NM_024665.7(TBL1XR1):c.327A>T (p.Ala109=)
NM_024665.7(TBL1XR1):c.333T>G (p.Ala111=)
NM_024665.7(TBL1XR1):c.342C>A (p.Ala114=)
NM_024665.7(TBL1XR1):c.342C>G (p.Ala114=)
NM_024665.7(TBL1XR1):c.342_350dup (p.Ala116_Ala118dup) rs746988856
NM_024665.7(TBL1XR1):c.356G>A (p.Ser119Asn) rs756214140
NM_024665.7(TBL1XR1):c.646C>T (p.Arg216Ter)
NM_024665.7(TBL1XR1):c.662A>G (p.Asp221Gly) rs1716847004
NM_024665.7(TBL1XR1):c.847A>C (p.Ser283Arg)

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