ClinVar Miner

List of variants in gene SLC6A1 reported as uncertain significance by Ambry Genetics

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_003042.4(SLC6A1):c.1436G>A (p.Arg479Gln) rs771439149 0.00006
NM_003042.4(SLC6A1):c.1302C>G (p.Ile434Met) rs200670508 0.00003
NM_003042.4(SLC6A1):c.31G>A (p.Gly11Arg) rs1264567694 0.00003
NM_003042.4(SLC6A1):c.144G>T (p.Lys48Asn) rs751216831 0.00001
NM_003042.4(SLC6A1):c.1528-5T>C rs748037660 0.00001
NM_003042.4(SLC6A1):c.1664T>C (p.Met555Thr) rs755011081 0.00001
NM_003042.4(SLC6A1):c.28G>A (p.Asp10Asn) rs751108300 0.00001
NM_003042.4(SLC6A1):c.371-5C>T rs1297168513 0.00001
NM_003042.4(SLC6A1):c.1094T>C (p.Phe365Ser)
NM_003042.4(SLC6A1):c.1259G>A (p.Arg420Lys)
NM_003042.4(SLC6A1):c.1303G>A (p.Gly435Ser)
NM_003042.4(SLC6A1):c.1328G>T (p.Gly443Val) rs1697891755
NM_003042.4(SLC6A1):c.1353C>G (p.Asp451Glu) rs1553691122
NM_003042.4(SLC6A1):c.1376G>C (p.Ser459Thr)
NM_003042.4(SLC6A1):c.1438T>C (p.Phe480Leu) rs758351251
NM_003042.4(SLC6A1):c.1558A>G (p.Thr520Ala)
NM_003042.4(SLC6A1):c.1573_1574del (p.Gly525fs)
NM_003042.4(SLC6A1):c.160C>T (p.Leu54Phe)
NM_003042.4(SLC6A1):c.163A>G (p.Met55Val)
NM_003042.4(SLC6A1):c.1701C>G (p.Ile567Met)
NM_003042.4(SLC6A1):c.1721G>A (p.Ser574Asn)
NM_003042.4(SLC6A1):c.1721G>C (p.Ser574Thr)
NM_003042.4(SLC6A1):c.1721G>T (p.Ser574Ile)
NM_003042.4(SLC6A1):c.1736G>A (p.Arg579His)
NM_003042.4(SLC6A1):c.233G>C (p.Gly78Ala) rs1697199338
NM_003042.4(SLC6A1):c.287C>T (p.Pro96Leu)
NM_003042.4(SLC6A1):c.452T>G (p.Leu151Arg) rs1697264679
NM_003042.4(SLC6A1):c.467C>A (p.Thr156Asn)
NM_003042.4(SLC6A1):c.543C>A (p.Asn181Lys)
NM_003042.4(SLC6A1):c.544A>G (p.Thr182Ala)
NM_003042.4(SLC6A1):c.703T>C (p.Trp235Arg)
NM_003042.4(SLC6A1):c.770G>A (p.Arg257His)
NM_003042.4(SLC6A1):c.850G>T (p.Val284Leu) rs1559630133

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