ClinVar Miner

List of variants in gene TBL1XR1 reported as benign for Pierpont syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_024665.7(TBL1XR1):c.766+5A>G rs3749234 0.21092
NM_024665.7(TBL1XR1):c.1416+25C>G rs16827730 0.10956
NM_024665.7(TBL1XR1):c.59-13C>G rs78281312 0.03907
NM_024665.7(TBL1XR1):c.1416+14A>G rs144060569 0.01159
NM_024665.7(TBL1XR1):c.669A>G (p.Pro223=) rs61750378 0.00631
NM_024665.7(TBL1XR1):c.291A>G (p.Gln97=) rs61750379 0.00455
NM_024665.7(TBL1XR1):c.1123-14T>G rs117037344 0.00152
NM_024665.7(TBL1XR1):c.1251-8T>A rs148654942 0.00065
NM_024665.7(TBL1XR1):c.1251-13C>G rs764679582 0.00038
NM_024665.7(TBL1XR1):c.865-19C>T rs375720678 0.00034
NM_024665.7(TBL1XR1):c.606C>T (p.Ser202=) rs561869177 0.00013
NM_024665.7(TBL1XR1):c.90A>C (p.Ile30=) rs201359736 0.00009
NM_024665.7(TBL1XR1):c.1417-12dup rs753561692
NM_024665.7(TBL1XR1):c.1417-16_1417-15dup rs753561692
NM_024665.7(TBL1XR1):c.1428A>G (p.Leu476=) rs544818049
NM_024665.7(TBL1XR1):c.1519-21_1519-18del rs777937343
NM_024665.7(TBL1XR1):c.865-20del rs1376809747

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