ClinVar Miner

List of variants in gene ALDH18A1 reported as likely benign for ALDH18A1-related de Barsy syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_002860.4(ALDH18A1):c.2207-3C>T rs149309642 0.00472
NM_002860.4(ALDH18A1):c.*292C>T rs78053774 0.00329
NM_002860.4(ALDH18A1):c.1329C>T (p.Ile443=) rs117709404 0.00134
NM_002860.4(ALDH18A1):c.*734C>A rs184009046 0.00035
NM_002860.4(ALDH18A1):c.-120A>G rs181772739
NM_002860.4(ALDH18A1):c.1473A>T (p.Ala491=) rs1374293487

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