List of variants in gene TBL1XR1 reported as likely pathogenic for developmental disorder of mental health

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 25

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HGVS	dbSNP	gnomAD frequency
NM_024665.7(TBL1XR1):c.1182_1183dup (p.Tyr395fs)	rs2108414363
NM_024665.7(TBL1XR1):c.1184A>G (p.Tyr395Cys)	rs1576982808
NM_024665.7(TBL1XR1):c.1291C>T (p.Arg431Ter)	rs755371824
NM_024665.7(TBL1XR1):c.1336T>C (p.Tyr446His)	rs1553808301
NM_024665.7(TBL1XR1):c.1378G>A (p.Gly460Ser)	rs2108407721
NM_024665.7(TBL1XR1):c.1387G>A (p.Asp463Asn)	rs1560098548
NM_024665.7(TBL1XR1):c.1453G>A (p.Gly485Arg)	rs2108378323
NM_024665.7(TBL1XR1):c.1496G>A (p.Gly499Glu)	rs1713131684
NM_024665.7(TBL1XR1):c.172_173del (p.Gln58fs)	rs2108503904
NM_024665.7(TBL1XR1):c.187G>A (p.Glu63Lys)	rs2108503870
NM_024665.7(TBL1XR1):c.204+2del	rs2108503840
NM_024665.7(TBL1XR1):c.205-7A>G	rs1717116134
NM_024665.7(TBL1XR1):c.226C>T (p.Arg76Ter)	rs1577029680
NM_024665.7(TBL1XR1):c.514G>C (p.Val172Leu)	rs1716920045
NM_024665.7(TBL1XR1):c.524G>A (p.Cys175Tyr)
NM_024665.7(TBL1XR1):c.59-1G>A	rs2108504144
NM_024665.7(TBL1XR1):c.679G>A (p.Asp227Asn)	rs2108490656
NM_024665.7(TBL1XR1):c.689C>T (p.Ser230Phe)	rs1553815393
NM_024665.7(TBL1XR1):c.703-2A>G	rs1577018466
NM_024665.7(TBL1XR1):c.710G>A (p.Gly237Asp)	rs1716484744
NM_024665.7(TBL1XR1):c.728G>A (p.Gly243Asp)	rs2108480284
NM_024665.7(TBL1XR1):c.734A>G (p.Tyr245Cys)	rs878854401
NM_024665.7(TBL1XR1):c.809T>G (p.Phe270Cys)
NM_024665.7(TBL1XR1):c.864+1G>A
NM_024665.7(TBL1XR1):c.920A>G (p.His307Arg)	rs1716297832

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