ClinVar Miner

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

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_003042.4(SLC6A1):c.1527G>A (p.Ala509=) rs34969656 0.00027
NM_003042.4(SLC6A1):c.28G>A (p.Asp10Asn) rs751108300 0.00001
NM_003042.4(SLC6A1):c.1039C>T (p.His347Tyr)
NM_003042.4(SLC6A1):c.1219_1235del (p.Ala407fs) rs1559634108
NM_003042.4(SLC6A1):c.1243C>T (p.Leu415Phe)
NM_003042.4(SLC6A1):c.1291T>C (p.Ser431Pro) rs1553690597
NM_003042.4(SLC6A1):c.1377C>A (p.Ser459Arg) rs1064795099
NM_003042.4(SLC6A1):c.1496G>A (p.Cys499Tyr) rs1574922621
NM_003042.4(SLC6A1):c.1697G>A (p.Arg566His) rs767142926
NM_003042.4(SLC6A1):c.1727A>C (p.Asp576Ala) rs1698164249
NM_003042.4(SLC6A1):c.1778C>T (p.Thr593Ile) rs2124949429
NM_003042.4(SLC6A1):c.187G>A (p.Gly63Ser) rs1057523845
NM_003042.4(SLC6A1):c.266C>T (p.Thr89Ile)
NM_003042.4(SLC6A1):c.314G>T (p.Gly105Val) rs1697222986
NM_003042.4(SLC6A1):c.322A>G (p.Thr108Ala) rs1574892400
NM_003042.4(SLC6A1):c.438G>T (p.Trp146Cys) rs2124908813
NM_003042.4(SLC6A1):c.464T>A (p.Phe155Tyr) rs2124908847
NM_003042.4(SLC6A1):c.498C>G (p.Asn166Lys)
NM_003042.4(SLC6A1):c.596A>G (p.Gln199Arg) rs1559626654
NM_003042.4(SLC6A1):c.668T>A (p.Ile223Asn)
NM_003042.4(SLC6A1):c.724T>G (p.Phe242Val)
NM_003042.4(SLC6A1):c.791C>T (p.Ala264Val)
NM_003042.4(SLC6A1):c.850-3T>G
NM_003042.4(SLC6A1):c.885A>G (p.Ser295=) rs563719346
NM_003042.4(SLC6A1):c.940A>G (p.Asn314Asp) rs2124925235
NM_003042.4(SLC6A1):c.952A>G (p.Arg318Gly) rs1697602793
NM_003042.4(SLC6A1):c.99G>C (p.Lys33Asn) rs767066259

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