ClinVar Miner

List of variants in gene TBL1XR1 reported as uncertain significance for autosomal dominant non-syndromic intellectual disability

Included ClinVar conditions (49):
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Gene type:
ClinVar version:
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.441T>G (p.Asp147Glu) rs1197826368 0.00001
NM_024665.7(TBL1XR1):c.444G>A (p.Met148Ile) rs1339329131 0.00001
NM_024665.7(TBL1XR1):c.1156G>C (p.Asp386His) rs1714448807
NM_024665.7(TBL1XR1):c.1486G>A (p.Asp496Asn) rs1713133035
NM_024665.7(TBL1XR1):c.208G>C (p.Gly70Arg) rs1717114995
NM_024665.7(TBL1XR1):c.40A>G (p.Arg14Gly) rs1718965342
NM_024665.7(TBL1XR1):c.472C>A (p.Pro158Thr)
NM_024665.7(TBL1XR1):c.559G>C (p.Gly187Arg) rs2108492204
NM_024665.7(TBL1XR1):c.699_700delinsTT (p.Trp233_Asn234delinsCysTyr)
NM_024665.7(TBL1XR1):c.756G>T (p.Trp252Cys) rs2108480249

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