ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
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

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