List of variants in gene combination LOC126806878, 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)
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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_024665.7(TBL1XR1):c.1047+1G>C
NM_024665.7(TBL1XR1):c.1071G>A (p.Trp357Ter)	rs2108436501
NM_024665.7(TBL1XR1):c.1097C>T (p.Ser366Phe)	rs2108436373
NM_024665.7(TBL1XR1):c.1108G>A (p.Asp370Asn)	rs1057517933
NM_024665.7(TBL1XR1):c.974G>A (p.Cys325Tyr)	rs1553810255
NM_024665.7(TBL1XR1):c.987G>A (p.Met329Ile)	rs1057524343

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