List of variants reported as likely pathogenic for Pierpont syndrome

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Total variants: 12

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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.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

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