ClinVar Miner

List of variants in gene combination LOC126806878, TBL1XR1 reported as likely pathogenic for Pierpont syndrome

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 5
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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.937G>A (p.Asp313Asn)
NM_024665.7(TBL1XR1):c.977G>A (p.Ser326Asn)

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