ClinVar Miner

List of variants studied for electroclinical syndrome by Division of Medical Genetics; Sainte-Justine Hospital

Included ClinVar conditions (113):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001199107.2(TBC1D24):c.1544C>T (p.Ala515Val) rs267607105 0.00002
NM_001199107.2(TBC1D24):c.439G>C (p.Asp147His) rs267607103
NM_001199107.2(TBC1D24):c.751T>C (p.Phe251Leu) rs267607104

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