ClinVar Miner

List of variants in gene SLC6A9 studied for Atypical glycine encephalopathy

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Gene type:
ClinVar version:
Total variants: 256
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HGVS dbSNP gnomAD frequency
NM_001024845.3(SLC6A9):c.807C>T (p.Asp269=) rs2248829 0.13947
NM_001024845.3(SLC6A9):c.1435+18C>T rs76038188 0.04923
NM_001024845.3(SLC6A9):c.960C>T (p.Tyr320=) rs61733181 0.01110
NM_001024845.3(SLC6A9):c.1146G>A (p.Pro382=) rs76354303 0.00909
NM_001024845.3(SLC6A9):c.31-697C>G rs187474842 0.00742
NM_001024845.3(SLC6A9):c.705G>C (p.Gly235=) rs72890664 0.00511
NM_001024845.3(SLC6A9):c.1537-6G>A rs113184612 0.00265
NM_001024845.3(SLC6A9):c.1810G>A (p.Gly604Ser) rs61733177 0.00241
NM_001024845.3(SLC6A9):c.654T>C (p.Leu218=) rs140091591 0.00180
NM_001024845.3(SLC6A9):c.1866T>C (p.Ser622=) rs150379192 0.00111
NM_001024845.3(SLC6A9):c.517G>A (p.Ala173Thr) rs142642003 0.00103
NM_001024845.3(SLC6A9):c.528C>T (p.Ser176=) rs139332952 0.00064
NM_001024845.3(SLC6A9):c.501T>C (p.Asn167=) rs148755700 0.00056
NM_001024845.3(SLC6A9):c.1290C>T (p.Gly430=) rs137855830 0.00051
NM_001024845.3(SLC6A9):c.1641C>T (p.Ser547=) rs144741950 0.00038
NM_001024845.3(SLC6A9):c.859-18A>G rs202227083 0.00038
NM_001024845.3(SLC6A9):c.930T>C (p.Ala310=) rs141699039 0.00026
NM_001024845.3(SLC6A9):c.1086C>T (p.His362=) rs778854185 0.00022
NM_001024845.3(SLC6A9):c.1653C>T (p.Ile551=) rs202054416 0.00021
NM_001024845.3(SLC6A9):c.1374G>A (p.Ala458=) rs199966777 0.00020
NM_001024845.3(SLC6A9):c.859-10T>C rs376444778 0.00020
NM_001024845.3(SLC6A9):c.1104C>T (p.Phe368=) rs149979593 0.00016
NM_001024845.3(SLC6A9):c.729G>A (p.Val243=) rs189624767 0.00016
NM_001024845.3(SLC6A9):c.1017C>T (p.Phe339=) rs200941888 0.00015
NM_001024845.3(SLC6A9):c.535T>C (p.Ser179Pro) rs201636712 0.00015
NM_001024845.3(SLC6A9):c.1435+10C>T rs201803106 0.00014
NM_001024845.3(SLC6A9):c.1721C>T (p.Ala574Val) rs146175246 0.00014
NM_001024845.3(SLC6A9):c.915C>T (p.Gly305=) rs201467484 0.00014
NM_001024845.3(SLC6A9):c.461A>G (p.His154Arg) rs201812410 0.00011
NM_001024845.3(SLC6A9):c.31-6217G>A rs200633191 0.00010
NM_001024845.3(SLC6A9):c.398A>T (p.Tyr133Phe) rs192630770 0.00010
NM_001024845.3(SLC6A9):c.1620C>G (p.Gly540=) rs201079660 0.00009
NM_001024845.3(SLC6A9):c.31-700G>A rs200011312 0.00009
NM_001024845.3(SLC6A9):c.918C>T (p.Leu306=) rs138394765 0.00009
NM_001024845.3(SLC6A9):c.1709G>A (p.Arg570His) rs141553063 0.00008
NM_001024845.3(SLC6A9):c.490A>C (p.Asn164His) rs199558856 0.00008
NM_001024845.3(SLC6A9):c.1424T>C (p.Met475Thr) rs141601886 0.00006
NM_001024845.3(SLC6A9):c.1835C>T (p.Pro612Leu) rs373799403 0.00006
NM_001024845.3(SLC6A9):c.31-6201G>A rs112726936 0.00006
NM_001024845.3(SLC6A9):c.116C>T (p.Thr39Met) rs200545935 0.00005
NM_001024845.3(SLC6A9):c.120C>T (p.Ser40=) rs571004944 0.00005
NM_001024845.3(SLC6A9):c.489C>G (p.Ser163=) rs763497489 0.00005
NM_001024845.3(SLC6A9):c.753C>T (p.Tyr251=) rs201597633 0.00005
NM_001024845.3(SLC6A9):c.859-16C>T rs371880142 0.00005
NM_001024845.3(SLC6A9):c.1336-12G>A rs201040295 0.00004
NM_001024845.3(SLC6A9):c.1537-17A>G rs201703200 0.00004
NM_001024845.3(SLC6A9):c.1537-9C>G rs201085053 0.00004
NM_001024845.3(SLC6A9):c.1780G>A (p.Ala594Thr) rs2286247 0.00004
NM_001024845.3(SLC6A9):c.1811G>T (p.Gly604Val) rs200955940 0.00004
NM_001024845.3(SLC6A9):c.319+14G>A rs201038599 0.00004
NM_001024845.3(SLC6A9):c.407C>T (p.Ser136Leu) rs201065535 0.00004
NM_001024845.3(SLC6A9):c.468C>T (p.Cys156=) rs777756958 0.00004
NM_001024845.3(SLC6A9):c.774T>A (p.Phe258Leu) rs199861598 0.00004
NM_001024845.3(SLC6A9):c.1096C>T (p.Leu366=) rs749350979 0.00003
NM_001024845.3(SLC6A9):c.1613C>T (p.Ala538Val) rs756505420 0.00003
NM_001024845.3(SLC6A9):c.219C>T (p.Leu73=) rs752331240 0.00003
NM_001024845.3(SLC6A9):c.31-6222C>T rs200465924 0.00003
NM_001024845.3(SLC6A9):c.1200+17G>A rs199559219 0.00002
NM_001024845.3(SLC6A9):c.1381T>G (p.Phe461Val) rs1156758875 0.00002
NM_001024845.3(SLC6A9):c.1442G>A (p.Arg481Gln) rs201783916 0.00002
NM_001024845.3(SLC6A9):c.1511G>A (p.Arg504His) rs150135550 0.00002
NM_001024845.3(SLC6A9):c.1662C>T (p.Tyr554=) rs145370858 0.00002
NM_001024845.3(SLC6A9):c.1845G>A (p.Ala615=) rs201082592 0.00002
NM_001024845.3(SLC6A9):c.273A>T (p.Ala91=) rs1291297446 0.00002
NM_001024845.3(SLC6A9):c.31-6226C>T rs202056254 0.00002
NM_001024845.3(SLC6A9):c.577G>A (p.Glu193Lys) rs193921002 0.00002
NM_001024845.3(SLC6A9):c.754G>A (p.Val252Met) rs200759556 0.00002
NM_001024845.3(SLC6A9):c.962G>A (p.Arg321Gln) rs201870833 0.00002
NM_001024845.3(SLC6A9):c.1035C>T (p.Leu345=) rs571108267 0.00001
NM_001024845.3(SLC6A9):c.1116C>T (p.Pro372=) rs752071690 0.00001
NM_001024845.3(SLC6A9):c.1144C>T (p.Pro382Ser) rs1336348098 0.00001
NM_001024845.3(SLC6A9):c.1218G>A (p.Thr406=) rs1366466556 0.00001
NM_001024845.3(SLC6A9):c.1335+11C>T rs375920422 0.00001
NM_001024845.3(SLC6A9):c.1441C>T (p.Arg481Trp) rs755142891 0.00001
NM_001024845.3(SLC6A9):c.1543C>T (p.Leu515=) rs767975291 0.00001
NM_001024845.3(SLC6A9):c.1572G>A (p.Pro524=) rs763994500 0.00001
NM_001024845.3(SLC6A9):c.1685C>T (p.Thr562Ile) rs756857614 0.00001
NM_001024845.3(SLC6A9):c.1697C>A (p.Thr566Asn) rs1331993313 0.00001
NM_001024845.3(SLC6A9):c.1815C>T (p.Phe605=) rs746391409 0.00001
NM_001024845.3(SLC6A9):c.1844C>T (p.Ala615Val) rs202156666 0.00001
NM_001024845.3(SLC6A9):c.189C>T (p.Gly63=) rs780398424 0.00001
NM_001024845.3(SLC6A9):c.31-6191C>T rs200396487 0.00001
NM_001024845.3(SLC6A9):c.31-6225G>A rs201727215 0.00001
NM_001024845.3(SLC6A9):c.31-684G>T rs1571886606 0.00001
NM_001024845.3(SLC6A9):c.31-693C>T rs1236884799 0.00001
NM_001024845.3(SLC6A9):c.357C>T (p.Ile119=) rs201434525 0.00001
NM_001024845.3(SLC6A9):c.664G>A (p.Gly222Ser) rs143087050 0.00001
NM_001024845.3(SLC6A9):c.762G>C (p.Leu254=) rs1270315807 0.00001
NM_001024845.3(SLC6A9):c.793G>A (p.Glu265Lys) rs199830284 0.00001
NM_001024845.3(SLC6A9):c.1000A>G (p.Ser334Gly) rs1057519313
NM_001024845.3(SLC6A9):c.1002C>T (p.Ser334=)
NM_001024845.3(SLC6A9):c.1003G>A (p.Val335Ile) rs149105213
NM_001024845.3(SLC6A9):c.1007A>G (p.Tyr336Cys)
NM_001024845.3(SLC6A9):c.1028C>T (p.Ser343Phe)
NM_001024845.3(SLC6A9):c.1053C>T (p.His351=)
NM_001024845.3(SLC6A9):c.1060G>A (p.Val354Met)
NM_001024845.3(SLC6A9):c.1119G>A (p.Glu373=) rs2154304521
NM_001024845.3(SLC6A9):c.1137C>T (p.Pro379=)
NM_001024845.3(SLC6A9):c.1176T>C (p.Leu392=)
NM_001024845.3(SLC6A9):c.1182G>A (p.Leu394=)
NM_001024845.3(SLC6A9):c.1200+16C>T
NM_001024845.3(SLC6A9):c.1200+17G>T
NM_001024845.3(SLC6A9):c.1200+5G>A
NM_001024845.3(SLC6A9):c.1227A>G (p.Thr409=)
NM_001024845.3(SLC6A9):c.1244T>C (p.Val415Ala)
NM_001024845.3(SLC6A9):c.1245G>A (p.Val415=) rs746403752
NM_001024845.3(SLC6A9):c.1274C>A (p.Thr425Asn)
NM_001024845.3(SLC6A9):c.1311G>C (p.Leu437=) rs1043389439
NM_001024845.3(SLC6A9):c.132C>T (p.Ala44=)
NM_001024845.3(SLC6A9):c.1335+12G>A
NM_001024845.3(SLC6A9):c.1335+16G>A
NM_001024845.3(SLC6A9):c.1336-9G>A rs2086080391
NM_001024845.3(SLC6A9):c.133G>A (p.Val45Met)
NM_001024845.3(SLC6A9):c.1380C>T (p.Ser460=)
NM_001024845.3(SLC6A9):c.1392G>T (p.Val464=)
NM_001024845.3(SLC6A9):c.1434C>T (p.Tyr478=)
NM_001024845.3(SLC6A9):c.1435+19G>A rs199700395
NM_001024845.3(SLC6A9):c.1435+19G>T
NM_001024845.3(SLC6A9):c.1435G>A (p.Gly479Arg) rs1557668170
NM_001024845.3(SLC6A9):c.1436-11dup
NM_001024845.3(SLC6A9):c.1437G>C (p.Gly479=)
NM_001024845.3(SLC6A9):c.144C>G (p.Gly48=)
NM_001024845.3(SLC6A9):c.1498C>T (p.Gln500Ter) rs1057519314
NM_001024845.3(SLC6A9):c.1506C>T (p.Cys502=)
NM_001024845.3(SLC6A9):c.1516G>A (p.Val506Ile)
NM_001024845.3(SLC6A9):c.1524C>T (p.Pro508=)
NM_001024845.3(SLC6A9):c.1525_1526del (p.Ala509fs) rs749973223
NM_001024845.3(SLC6A9):c.1536+11_1536+30del rs549038505
NM_001024845.3(SLC6A9):c.1536+1G>A
NM_001024845.3(SLC6A9):c.1536+9C>T rs780348462
NM_001024845.3(SLC6A9):c.1537-14C>T
NM_001024845.3(SLC6A9):c.1537-16C>T
NM_001024845.3(SLC6A9):c.1537-1_1538dup
NM_001024845.3(SLC6A9):c.1537-6G>T
NM_001024845.3(SLC6A9):c.1537-8C>T rs757540868
NM_001024845.3(SLC6A9):c.154C>T (p.Arg52Cys)
NM_001024845.3(SLC6A9):c.1602C>T (p.Gly534=) rs2085936509
NM_001024845.3(SLC6A9):c.1639T>C (p.Ser547Pro)
NM_001024845.3(SLC6A9):c.1656C>T (p.Pro552=)
NM_001024845.3(SLC6A9):c.1682G>A (p.Arg561His)
NM_001024845.3(SLC6A9):c.1702C>T (p.Leu568Phe) rs2154304007
NM_001024845.3(SLC6A9):c.1708-5T>C
NM_001024845.3(SLC6A9):c.1756C>T (p.Leu586=)
NM_001024845.3(SLC6A9):c.1785C>T (p.Pro595=)
NM_001024845.3(SLC6A9):c.1787C>T (p.Thr596Ile)
NM_001024845.3(SLC6A9):c.1809C>T (p.Asp603=)
NM_001024845.3(SLC6A9):c.1820T>A (p.Val607Asp)
NM_001024845.3(SLC6A9):c.1820T>G (p.Val607Gly)
NM_001024845.3(SLC6A9):c.1836G>A (p.Pro612=)
NM_001024845.3(SLC6A9):c.1860G>T (p.Val620=)
NM_001024845.3(SLC6A9):c.1862G>A (p.Gly621Asp)
NM_001024845.3(SLC6A9):c.1865G>T (p.Ser622Ile)
NM_001024845.3(SLC6A9):c.1869T>C (p.Asn623=)
NM_001024845.3(SLC6A9):c.187+15_187+16insGCACGGGGGAGGTACCCAGTGA rs775860231
NM_001024845.3(SLC6A9):c.187+17G>A
NM_001024845.3(SLC6A9):c.187+9T>G
NM_001024845.3(SLC6A9):c.1871_1877del (p.Gly624fs)
NM_001024845.3(SLC6A9):c.1875C>T (p.Ser625=)
NM_001024845.3(SLC6A9):c.188-7C>G
NM_001024845.3(SLC6A9):c.1880G>A (p.Arg627His)
NM_001024845.3(SLC6A9):c.1887G>A (p.Gln629=)
NM_001024845.3(SLC6A9):c.1891T>G (p.Ser631Ala)
NM_001024845.3(SLC6A9):c.1894C>T (p.Arg632Trp)
NM_001024845.3(SLC6A9):c.207C>T (p.Tyr69=)
NM_001024845.3(SLC6A9):c.220A>G (p.Ile74Val)
NM_001024845.3(SLC6A9):c.229G>A (p.Gly77Arg) rs200456440
NM_001024845.3(SLC6A9):c.235C>T (p.Pro79Ser) rs2154305890
NM_001024845.3(SLC6A9):c.250G>A (p.Glu84Lys)
NM_001024845.3(SLC6A9):c.261C>T (p.Phe87=)
NM_001024845.3(SLC6A9):c.31-6157A>G
NM_001024845.3(SLC6A9):c.31-6164G>C rs2154306852
NM_001024845.3(SLC6A9):c.31-6195T>C rs1392773049
NM_001024845.3(SLC6A9):c.31-6206G>A
NM_001024845.3(SLC6A9):c.31-6212A>G
NM_001024845.3(SLC6A9):c.31-6218C>T
NM_001024845.3(SLC6A9):c.31-6221G>A
NM_001024845.3(SLC6A9):c.31-6225G>T rs201727215
NM_001024845.3(SLC6A9):c.31-6234G>A
NM_001024845.3(SLC6A9):c.31-6241del rs1460786911
NM_001024845.3(SLC6A9):c.31-6243C>T
NM_001024845.3(SLC6A9):c.31-6245G>A
NM_001024845.3(SLC6A9):c.31-6251A>G rs1450790373
NM_001024845.3(SLC6A9):c.31-660C>A
NM_001024845.3(SLC6A9):c.31-674G>A
NM_001024845.3(SLC6A9):c.31-676C>G
NM_001024845.3(SLC6A9):c.31-682C>G
NM_001024845.3(SLC6A9):c.31-683C>G
NM_001024845.3(SLC6A9):c.31-717C>G rs1321050627
NM_001024845.3(SLC6A9):c.31-731A>C rs746124622
NM_001024845.3(SLC6A9):c.31-736C>T
NM_001024845.3(SLC6A9):c.31-757C>G
NM_001024845.3(SLC6A9):c.31-764_31-763del
NM_001024845.3(SLC6A9):c.31-765G>C
NM_001024845.3(SLC6A9):c.31-821A>G
NM_001024845.3(SLC6A9):c.31-825G>A
NM_001024845.3(SLC6A9):c.31-835G>A
NM_001024845.3(SLC6A9):c.31-856G>C
NM_001024845.3(SLC6A9):c.31-8C>T
NM_001024845.3(SLC6A9):c.319+13C>T
NM_001024845.3(SLC6A9):c.320-19C>A
NM_001024845.3(SLC6A9):c.329A>G (p.Tyr110Cys)
NM_001024845.3(SLC6A9):c.361A>G (p.Ile121Val)
NM_001024845.3(SLC6A9):c.387C>T (p.Ile129=)
NM_001024845.3(SLC6A9):c.408G>A (p.Ser136=)
NM_001024845.3(SLC6A9):c.417G>T (p.Thr139=)
NM_001024845.3(SLC6A9):c.449C>T (p.Pro150Leu)
NM_001024845.3(SLC6A9):c.450C>G (p.Pro150=)
NM_001024845.3(SLC6A9):c.458C>T (p.Thr153Met)
NM_001024845.3(SLC6A9):c.472G>A (p.Gly158Ser) rs61741712
NM_001024845.3(SLC6A9):c.484G>T (p.Ala162Ser) rs200984575
NM_001024845.3(SLC6A9):c.492C>A (p.Asn164Lys)
NM_001024845.3(SLC6A9):c.49G>A (p.Glu17Lys)
NM_001024845.3(SLC6A9):c.508C>G (p.Arg170Gly) rs774340135
NM_001024845.3(SLC6A9):c.516C>T (p.Ala172=)
NM_001024845.3(SLC6A9):c.54C>G (p.Ala18=)
NM_001024845.3(SLC6A9):c.573C>T (p.Pro191=)
NM_001024845.3(SLC6A9):c.579G>C (p.Glu193Asp)
NM_001024845.3(SLC6A9):c.590+7C>G rs1279993228
NM_001024845.3(SLC6A9):c.590+7C>T
NM_001024845.3(SLC6A9):c.590+9C>T rs752205928
NM_001024845.3(SLC6A9):c.591-16A>G rs2154304738
NM_001024845.3(SLC6A9):c.598G>T (p.Val200Leu)
NM_001024845.3(SLC6A9):c.622G>A (p.Gly208Arg)
NM_001024845.3(SLC6A9):c.629T>C (p.Phe210Ser)
NM_001024845.3(SLC6A9):c.641G>T (p.Arg214Leu) rs201950352
NM_001024845.3(SLC6A9):c.645G>A (p.Leu215=) rs200958790
NM_001024845.3(SLC6A9):c.64G>A (p.Asp22Asn) rs2086539962
NM_001024845.3(SLC6A9):c.658T>G (p.Cys220Gly)
NM_001024845.3(SLC6A9):c.690C>T (p.Leu230=)
NM_001024845.3(SLC6A9):c.700C>A (p.Arg234=)
NM_001024845.3(SLC6A9):c.705G>A (p.Gly235=)
NM_001024845.3(SLC6A9):c.709_713del (p.Lys237fs) rs1057519315
NM_001024845.3(SLC6A9):c.723+10C>T
NM_001024845.3(SLC6A9):c.723+12T>A
NM_001024845.3(SLC6A9):c.724-16A>G
NM_001024845.3(SLC6A9):c.724-7G>A
NM_001024845.3(SLC6A9):c.737C>T (p.Thr246Met)
NM_001024845.3(SLC6A9):c.743C>T (p.Thr248Met)
NM_001024845.3(SLC6A9):c.744G>A (p.Thr248=)
NM_001024845.3(SLC6A9):c.779G>A (p.Arg260His)
NM_001024845.3(SLC6A9):c.780C>T (p.Arg260=)
NM_001024845.3(SLC6A9):c.828C>T (p.Thr276=) rs2154304674
NM_001024845.3(SLC6A9):c.832C>T (p.Gln278Ter) rs201437896
NM_001024845.3(SLC6A9):c.84C>A (p.Gly28=)
NM_001024845.3(SLC6A9):c.859-15G>A
NM_001024845.3(SLC6A9):c.859-6C>T
NM_001024845.3(SLC6A9):c.903C>T (p.Cys301=)
NM_001024845.3(SLC6A9):c.939C>A (p.Asn313Lys)
NM_001024845.3(SLC6A9):c.941dup (p.Phe315fs)
NM_001024845.3(SLC6A9):c.962+13T>C
NM_001024845.3(SLC6A9):c.962+13T>G
NM_001024845.3(SLC6A9):c.962+14G>T
NM_001024845.3(SLC6A9):c.962+19G>T
NM_001024845.3(SLC6A9):c.963-17G>A
NM_001024845.3(SLC6A9):c.963-5A>C
NM_001024845.3(SLC6A9):c.990C>T (p.Asn330=)

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