ClinVar Miner

List of variants in gene SLC6A1 reported as pathogenic by Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_003042.3(SLC6A1):c.1328del	rs1199489242
NM_003042.4(SLC6A1):c.919G>A (p.Gly307Arg)	rs1553689696

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