ClinVar Miner

List of variants studied for metabolic disease involving other neurotransmitter deficiency by Génétique des Maladies du Développement, Hospices Civils de Lyon

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001353921.2(ARHGEF9):c.1078-3T>G rs1409374479
NM_001353921.2(ARHGEF9):c.1351C>T (p.Gln451Ter) rs2519503706
NM_001353921.2(ARHGEF9):c.331C>T (p.Arg111Trp) rs1556401730

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