ClinVar Miner

List of variants studied for Clark-Baraitser syndrome by Génétique des Maladies du Développement, Hospices Civils de Lyon

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001348323.3(TRIP12):c.2776G>T (p.Gly926Ter) rs2154270715
NM_001348323.3(TRIP12):c.4318C>T (p.Gln1440Ter)
NM_001348323.3(TRIP12):c.5801C>T (p.Pro1934Leu)

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