ClinVar Miner

List of variants in gene combination LOC126806878, TBL1XR1 reported as pathogenic for Pierpont syndrome

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
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

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