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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 20

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HGVS	dbSNP	gnomAD frequency
NM_024665.7(TBL1XR1):c.926-16C>G	rs111696369	0.00011
NM_024665.7(TBL1XR1):c.926-18A>G	rs556726946	0.00004
NM_024665.7(TBL1XR1):c.933A>G (p.Ala311=)	rs778688857	0.00002
NM_024665.7(TBL1XR1):c.1089C>G (p.Leu363=)	rs749108767	0.00001
NM_024665.7(TBL1XR1):c.945T>C (p.Asp315=)	rs757159620	0.00001
NM_024665.7(TBL1XR1):c.1026T>A (p.Ile342=)
NM_024665.7(TBL1XR1):c.1048-7T>C
NM_024665.7(TBL1XR1):c.1090T>C (p.Leu364=)	rs2108436409
NM_024665.7(TBL1XR1):c.1095C>G (p.Ala365=)	rs2108436387
NM_024665.7(TBL1XR1):c.1104T>G (p.Ser368=)
NM_024665.7(TBL1XR1):c.1107C>T (p.Asp369=)
NM_024665.7(TBL1XR1):c.1122+12A>G
NM_024665.7(TBL1XR1):c.1122+13G>C	rs973017561
NM_024665.7(TBL1XR1):c.1122+15A>T	rs781151039
NM_024665.7(TBL1XR1):c.1122+16G>A
NM_024665.7(TBL1XR1):c.926-12G>T	rs1715114156
NM_024665.7(TBL1XR1):c.926-20T>C	rs2108437610
NM_024665.7(TBL1XR1):c.926-4G>T
NM_024665.7(TBL1XR1):c.926-6T>C	rs1553810291
NM_024665.7(TBL1XR1):c.999C>T (p.Val333=)

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