ClinVar Miner

List of variants in gene SLC6A1 reported as pathogenic for not provided

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Gene type:
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Total variants: 29
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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.1072del (p.Ala358fs) rs1064796533
NM_003042.4(SLC6A1):c.1084G>A (p.Gly362Arg) rs1131691302
NM_003042.4(SLC6A1):c.1189C>T (p.Gln397Ter) rs1553690452
NM_003042.4(SLC6A1):c.1222del (p.Leu408fs) rs1574913614
NM_003042.4(SLC6A1):c.1308_1311del (p.Ser437fs) rs1553690601
NM_003042.4(SLC6A1):c.130C>T (p.Arg44Trp) rs1553687863
NM_003042.4(SLC6A1):c.131G>A (p.Arg44Gln) rs794726859
NM_003042.4(SLC6A1):c.1324-2del rs2124936720
NM_003042.4(SLC6A1):c.1377C>A (p.Ser459Arg) rs1064795099
NM_003042.4(SLC6A1):c.1435C>T (p.Arg479Ter) rs745529755
NM_003042.4(SLC6A1):c.148_151del (p.Arg50fs) rs1697194864
NM_003042.4(SLC6A1):c.1531G>A (p.Val511Met) rs1064794981
NM_003042.4(SLC6A1):c.155A>T (p.Asp52Val) rs1697195476
NM_003042.4(SLC6A1):c.156C>G (p.Asp52Glu) rs1697195588
NM_003042.4(SLC6A1):c.158T>C (p.Phe53Ser) rs1697195703
NM_003042.4(SLC6A1):c.1648G>A (p.Gly550Arg) rs886042046
NM_003042.4(SLC6A1):c.222C>A (p.Cys74Ter) rs139045747
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.332G>A (p.Gly111Glu) rs1574892457
NM_003042.4(SLC6A1):c.640_658del (p.Leu214fs) rs1553688970
NM_003042.4(SLC6A1):c.738C>A (p.Tyr246Ter) rs1559629701
NM_003042.4(SLC6A1):c.863C>T (p.Ala288Val) rs794726860
NM_003042.4(SLC6A1):c.875TCT[2] (p.Phe294del) rs1574907198
NM_003042.4(SLC6A1):c.889G>A (p.Gly297Arg) rs876657400
NM_003042.4(SLC6A1):c.919G>A (p.Gly307Arg) rs1553689696

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