List of variants in gene SLC6A1 reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

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)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_003042.3(SLC6A1):c.1328del	rs1199489242
NM_003042.4(SLC6A1):c.1024G>A (p.Val342Met)	rs760836450
NM_003042.4(SLC6A1):c.1070C>T (p.Ala357Val)	rs1553689859
NM_003042.4(SLC6A1):c.1189C>T (p.Gln397Ter)	rs1553690452
NM_003042.4(SLC6A1):c.131G>A (p.Arg44Gln)	rs794726859
NM_003042.4(SLC6A1):c.738C>A (p.Tyr246Ter)	rs1559629701

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