ClinVar Miner

List of variants in gene SLC6A1 reported as not provided

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Gene type:
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Total variants: 19
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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.871C>T (p.Gln291Ter) rs1064795098
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.919G>A (p.Gly307Arg) rs1553689696
NM_003042.4(SLC6A1):c.982del (p.Ser328fs)

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