List of variants in gene SLC6A1 reported by GenomeConnect - Brain Gene Registry

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_003042.4(SLC6A1):c.583C>T (p.Arg195Cys)	rs769934894	0.00001
NM_003042.4(SLC6A1):c.104dup (p.Lys36fs)	rs2124905143
NM_003042.4(SLC6A1):c.1070C>T (p.Ala357Val)	rs1553689859
NM_003042.4(SLC6A1):c.1084G>A (p.Gly362Arg)	rs1131691302
NM_003042.4(SLC6A1):c.1084G>C (p.Gly362Arg)
NM_003042.4(SLC6A1):c.1222del (p.Leu408fs)	rs1574913614
NM_003042.4(SLC6A1):c.1255del (p.Arg419fs)	rs1553690583
NM_003042.4(SLC6A1):c.130C>T (p.Arg44Trp)	rs1553687863
NM_003042.4(SLC6A1):c.1527+2T>C
NM_003042.4(SLC6A1):c.1597G>C (p.Gly533Arg)	rs1698067665
NM_003042.4(SLC6A1):c.223G>A (p.Gly75Arg)	rs1064795852
NM_003042.4(SLC6A1):c.331G>A (p.Gly111Arg)	rs1559622516
NM_003042.4(SLC6A1):c.640_658del (p.Leu214fs)	rs1553688970
NM_003042.4(SLC6A1):c.863C>T (p.Ala288Val)	rs794726860
NM_003042.4(SLC6A1):c.884C>T (p.Ser295Leu)	rs1574907241
NM_003042.4(SLC6A1):c.889G>A (p.Gly297Arg)	rs876657400
NM_003042.4(SLC6A1):c.982del (p.Ser328fs)

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