ClinVar Miner

List of variants reported as likely pathogenic for Pierpont syndrome

Included ClinVar conditions (2):
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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_024665.7(TBL1XR1):c.1018_1021del (p.Arg340fs) rs1715100386
NM_024665.7(TBL1XR1):c.1048-1G>A rs1576993734
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.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
NM_024665.7(TBL1XR1):c.937G>A (p.Asp313Asn)
NM_024665.7(TBL1XR1):c.977G>A (p.Ser326Asn)

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