ClinVar Miner

List of variants reported as likely pathogenic for Pierpont syndrome

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Total variants: 9
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NM_024665.6(TBL1XR1):c.1048-1G>A rs1576993734
NM_024665.6(TBL1XR1):c.1387G>A (p.Asp463Asn) rs1560098548
NM_024665.7(TBL1XR1):c.1018_1021del (p.Arg340fs)
NM_024665.7(TBL1XR1):c.1100G>T (p.Cys367Phe) rs1576993654
NM_024665.7(TBL1XR1):c.1184A>G (p.Tyr395Cys) rs1576982808
NM_024665.7(TBL1XR1):c.226C>T (p.Arg76Ter) rs1577029680
NM_024665.7(TBL1XR1):c.514G>C (p.Val172Leu)
NM_024665.7(TBL1XR1):c.703-2A>G rs1577018466
NM_024665.7(TBL1XR1):c.710G>A (p.Gly237Asp)

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