List of variants in gene TBL1XR1 reported as 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: 15

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HGVS	dbSNP	gnomAD frequency
NM_024665.7(TBL1XR1):c.1182T>G (p.Ile394Met)	rs973409423
NM_024665.7(TBL1XR1):c.1195T>A (p.Trp399Arg)	rs2108414262
NM_024665.7(TBL1XR1):c.1336T>C (p.Tyr446His)	rs1553808301
NM_024665.7(TBL1XR1):c.1337A>G (p.Tyr446Cys)	rs878854402
NM_024665.7(TBL1XR1):c.1340G>A (p.Ser447Asn)	rs2108407962
NM_024665.7(TBL1XR1):c.205-7A>G	rs1717116134
NM_024665.7(TBL1XR1):c.208G>T (p.Gly70Cys)
NM_024665.7(TBL1XR1):c.226C>T (p.Arg76Ter)	rs1577029680
NM_024665.7(TBL1XR1):c.327_357dup (p.Gln120fs)	rs1577029136
NM_024665.7(TBL1XR1):c.41del (p.Arg14fs)	rs2108539881
NM_024665.7(TBL1XR1):c.420dup (p.Ile141fs)
NM_024665.7(TBL1XR1):c.626_629del (p.Leu209fs)	rs1716848997
NM_024665.7(TBL1XR1):c.64dup (p.Ser22fs)
NM_024665.7(TBL1XR1):c.776_780dup (p.Thr261fs)
NM_024665.7(TBL1XR1):c.830_831del (p.Lys277fs)

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