List of variants in gene TBL1XR1 reported as likely pathogenic for Pierpont syndrome

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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: 11

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HGVS	dbSNP	gnomAD frequency
NM_024665.7(TBL1XR1):c.1184A>G (p.Tyr395Cys)	rs1576982808
NM_024665.7(TBL1XR1):c.1387G>A (p.Asp463Asn)	rs1560098548
NM_024665.7(TBL1XR1):c.172_173del (p.Gln58fs)	rs2108503904
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.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.734A>G (p.Tyr245Cys)	rs878854401
NM_024665.7(TBL1XR1):c.864+1G>A

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