ClinVar Miner

List of variants in gene SLC6A8 reported by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NC_000023.11:g.153694345del rs1603217468
NM_005629.4(SLC6A8):c.1330G>T (p.Glu444Ter) rs2091474617
NM_005629.4(SLC6A8):c.1703C>A (p.Ser568Tyr) rs1603217815

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