List of variants reported as pathogenic for Pierpont syndrome by Invitae

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_024665.7(TBL1XR1):c.1071G>A (p.Trp357Ter)	rs2108436501
NM_024665.7(TBL1XR1):c.1182T>G (p.Ile394Met)	rs973409423
NM_024665.7(TBL1XR1):c.1195T>A (p.Trp399Arg)	rs2108414262
NM_024665.7(TBL1XR1):c.1337A>G (p.Tyr446Cys)	rs878854402
NM_024665.7(TBL1XR1):c.205-7A>G	rs1717116134
NM_024665.7(TBL1XR1):c.208G>T (p.Gly70Cys)
NM_024665.7(TBL1XR1):c.327_357dup (p.Gln120fs)	rs1577029136
NM_024665.7(TBL1XR1):c.41del (p.Arg14fs)	rs2108539881
NM_024665.7(TBL1XR1):c.626_629del (p.Leu209fs)	rs1716848997
NM_024665.7(TBL1XR1):c.776_780dup (p.Thr261fs)
NM_024665.7(TBL1XR1):c.830_831del (p.Lys277fs)

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