ClinVar Miner

List of variants in gene TLL1 reported as pathogenic for atrial septal defect

Included ClinVar conditions (61):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_012464.5(TLL1):c.713T>C (p.Val238Ala) rs137852952 0.00025
NM_012464.5(TLL1):c.1885A>G (p.Ile629Val) rs137852953
NM_012464.5(TLL1):c.544A>C (p.Met182Leu) rs137852951

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