List of variants reported as likely pathogenic for Pierpont syndrome by Invitae

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_024665.7(TBL1XR1):c.1048-1G>A	rs1576993734
NM_024665.7(TBL1XR1):c.1387G>A (p.Asp463Asn)	rs1560098548
NM_024665.7(TBL1XR1):c.514G>C (p.Val172Leu)	rs1716920045
NM_024665.7(TBL1XR1):c.734A>G (p.Tyr245Cys)	rs878854401
NM_024665.7(TBL1XR1):c.864+1G>A

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