ClinVar Miner

List of variants in gene SACS reported by Athena Diagnostics Inc

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 250
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HGVS dbSNP
NM_014363.6(SACS):c.10118C>T (p.Thr3373Ile) rs200591364
NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter) rs1057517250
NM_014363.6(SACS):c.10158A>G (p.Ala3386=)
NM_014363.6(SACS):c.10181A>G (p.Asn3394Ser) rs375898103
NM_014363.6(SACS):c.10221A>G (p.Leu3407=) rs143243372
NM_014363.6(SACS):c.10226C>G (p.Ser3409Ter) rs1566059895
NM_014363.6(SACS):c.10274A>G (p.Lys3425Arg) rs147317123
NM_014363.6(SACS):c.10305T>C (p.Ser3435=) rs35670472
NM_014363.6(SACS):c.10338G>A (p.Gln3446=) rs2737701
NM_014363.6(SACS):c.10443C>G (p.Leu3481=) rs144087359
NM_014363.6(SACS):c.10611A>G (p.Ala3537=) rs137856939
NM_014363.6(SACS):c.1061C>G (p.Thr354Ser) rs1425519295
NM_014363.6(SACS):c.10622A>G (p.Tyr3541Cys) rs747013127
NM_014363.6(SACS):c.10668G>A (p.Leu3556=) rs139517699
NM_014363.6(SACS):c.10675C>G (p.Pro3559Ala) rs767704103
NM_014363.6(SACS):c.10731A>G (p.Thr3577=)
NM_014363.6(SACS):c.10737G>A (p.Met3579Ile) rs199970621
NM_014363.6(SACS):c.10787C>T (p.Ser3596Phe)
NM_014363.6(SACS):c.1081A>G (p.Lys361Glu) rs377027736
NM_014363.6(SACS):c.10821C>A (p.Ile3607=) rs113595574
NM_014363.6(SACS):c.10862T>C (p.Leu3621Ser) rs1397997962
NM_014363.6(SACS):c.10896A>G (p.Ile3632Met) rs35256065
NM_014363.6(SACS):c.10954C>A (p.Pro3652Thr) rs201505036
NM_014363.6(SACS):c.10972C>T (p.Arg3658Trp) rs115155117
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val) rs36061856
NM_014363.6(SACS):c.10983G>A (p.Ala3661=)
NM_014363.6(SACS):c.11032C>G (p.Pro3678Ala) rs17078601
NM_014363.6(SACS):c.11066C>A (p.Pro3689Gln) rs148925505
NM_014363.6(SACS):c.11109C>T (p.Ser3703=)
NM_014363.6(SACS):c.11161G>A (p.Gly3721Ser) rs780789569
NM_014363.6(SACS):c.11215G>A (p.Val3739Ile) rs1027336196
NM_014363.6(SACS):c.11301A>T (p.Lys3767Asn) rs762041995
NM_014363.6(SACS):c.11302A>G (p.Thr3768Ala) rs774463808
NM_014363.6(SACS):c.11309C>G (p.Ala3770Gly) rs1170997950
NM_014363.6(SACS):c.11348A>G (p.Glu3783Gly) rs1048404551
NM_014363.6(SACS):c.11380G>T (p.Val3794Phe) rs753844954
NM_014363.6(SACS):c.11688G>A (p.Arg3896=) rs116791509
NM_014363.6(SACS):c.11781G>A (p.Ala3927=) rs369998705
NM_014363.6(SACS):c.11853A>G (p.Leu3951=)
NM_014363.6(SACS):c.11887A>G (p.Met3963Val)
NM_014363.6(SACS):c.11901A>G (p.Gln3967=) rs572068106
NM_014363.6(SACS):c.12130G>C (p.Gly4044Arg)
NM_014363.6(SACS):c.12148T>C (p.Phe4050Leu) rs147013767
NM_014363.6(SACS):c.12190C>A (p.Pro4064Thr)
NM_014363.6(SACS):c.12216T>A (p.Thr4072=) rs574182225
NM_014363.6(SACS):c.1224C>T (p.Asp408=) rs2274386
NM_014363.6(SACS):c.12260A>G (p.Tyr4087Cys) rs373478772
NM_014363.6(SACS):c.12585A>G (p.Gly4195=) rs200305087
NM_014363.6(SACS):c.12597A>G (p.Pro4199=) rs112630127
NM_014363.6(SACS):c.12618T>C (p.Ile4206=)
NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp) rs35799469
NM_014363.6(SACS):c.12762C>T (p.Ser4254=) rs11554397
NM_014363.6(SACS):c.12813T>G (p.Pro4271=) rs146376949
NM_014363.6(SACS):c.12829C>T (p.Pro4277Ser) rs370655945
NM_014363.6(SACS):c.13039A>G (p.Ile4347Val) rs200939906
NM_014363.6(SACS):c.1310C>T (p.Thr437Met) rs199657817
NM_014363.6(SACS):c.13269A>T (p.Ser4423=) rs1180908312
NM_014363.6(SACS):c.13273G>A (p.Gly4425Arg) rs754693143
NM_014363.6(SACS):c.13374C>T (p.Phe4458=) rs148914536
NM_014363.6(SACS):c.134C>T (p.Pro45Leu) rs1033188876
NM_014363.6(SACS):c.13590T>C (p.Gly4530=)
NM_014363.6(SACS):c.13717A>C (p.Asn4573His) rs34382952
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile) rs61729954
NM_014363.6(SACS):c.1374A>G (p.Thr458=) rs149129638
NM_014363.6(SACS):c.1378C>T (p.Leu460Phe) rs145213666
NM_014363.6(SACS):c.1387C>A (p.His463Asn)
NM_014363.6(SACS):c.1391T>G (p.Ile464Ser) rs1593144937
NM_014363.6(SACS):c.1463C>T (p.Pro488Leu) rs375875022
NM_014363.6(SACS):c.1498G>A (p.Val500Ile) rs1244967438
NM_014363.6(SACS):c.1519A>G (p.Thr507Ala) rs372022664
NM_014363.6(SACS):c.1662C>T (p.Ser554=) rs185812845
NM_014363.6(SACS):c.1799A>G (p.Gln600Arg) rs1348513054
NM_014363.6(SACS):c.1815A>G (p.Pro605=) rs377649927
NM_014363.6(SACS):c.1839G>A (p.Gln613=) rs35840595
NM_014363.6(SACS):c.1846G>C (p.Ala616Pro) rs200437752
NM_014363.6(SACS):c.1884C>T (p.Pro628=) rs144468379
NM_014363.6(SACS):c.1885G>A (p.Ala629Thr) rs149638449
NM_014363.6(SACS):c.1912T>G (p.Cys638Gly) rs200333323
NM_014363.6(SACS):c.1913G>A (p.Cys638Tyr) rs778572943
NM_014363.6(SACS):c.1917A>G (p.Ala639=) rs138457742
NM_014363.6(SACS):c.2024A>G (p.Asn675Ser) rs146395198
NM_014363.6(SACS):c.2037CTC[1] (p.Ser682del)
NM_014363.6(SACS):c.2040C>T (p.Ser680=) rs142115704
NM_014363.6(SACS):c.2080G>A (p.Ala694Thr) rs17325713
NM_014363.6(SACS):c.2096C>T (p.Ser699Phe) rs374680967
NM_014363.6(SACS):c.2146C>T (p.His716Tyr) rs146852400
NM_014363.6(SACS):c.2182C>G (p.Arg728Gly) rs752059006
NM_014363.6(SACS):c.2234G>A (p.Arg745His) rs143677534
NM_014363.6(SACS):c.2289A>G (p.Gln763=) rs765734527
NM_014363.6(SACS):c.2439_2440del (p.Val815fs) rs775059063
NM_014363.6(SACS):c.2471C>T (p.Ser824Leu) rs762821420
NM_014363.6(SACS):c.247T>C (p.Leu83=) rs1470292816
NM_014363.6(SACS):c.2497G>A (p.Glu833Lys) rs143433500
NM_014363.6(SACS):c.2580A>G (p.Gln860=) rs41283958
NM_014363.6(SACS):c.2585C>T (p.Pro862Leu)
NM_014363.6(SACS):c.260-9G>A rs376676263
NM_014363.6(SACS):c.2602A>G (p.Ile868Val) rs142284018
NM_014363.6(SACS):c.2611C>T (p.Pro871Ser) rs370103461
NM_014363.6(SACS):c.2681C>T (p.Ser894Leu) rs201857647
NM_014363.6(SACS):c.2686C>T (p.Leu896Phe) rs760556327
NM_014363.6(SACS):c.2776A>G (p.Ile926Val) rs144362131
NM_014363.6(SACS):c.2806C>A (p.Gln936Lys)
NM_014363.6(SACS):c.2886_2887del (p.Ser963fs) rs1326359185
NM_014363.6(SACS):c.2926C>A (p.Arg976Ser) rs139993038
NM_014363.6(SACS):c.2929C>T (p.Leu977=) rs146296924
NM_014363.6(SACS):c.2983G>T (p.Val995Phe) rs142967124
NM_014363.6(SACS):c.2988A>G (p.Leu996=) rs111846884
NM_014363.6(SACS):c.2997T>A (p.Ile999=)
NM_014363.6(SACS):c.3017A>G (p.His1006Arg) rs368149368
NM_014363.6(SACS):c.3042A>G (p.Leu1014=) rs141982796
NM_014363.6(SACS):c.3074A>T (p.Asn1025Ile) rs150981983
NM_014363.6(SACS):c.3129A>G (p.Ser1043=) rs148878361
NM_014363.6(SACS):c.3144A>G (p.Val1048=) rs3751369
NM_014363.6(SACS):c.3242C>T (p.Pro1081Leu) rs377493083
NM_014363.6(SACS):c.3346G>T (p.Gly1116Cys) rs774044532
NM_014363.6(SACS):c.3408T>G (p.Asn1136Lys) rs756303420
NM_014363.6(SACS):c.3413A>G (p.Asn1138Ser) rs1202128043
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys) rs144267558
NM_014363.6(SACS):c.3506G>C (p.Gly1169Ala) rs1443000762
NM_014363.6(SACS):c.3752T>C (p.Ile1251Thr) rs76872266
NM_014363.6(SACS):c.382_383del (p.Glu128fs)
NM_014363.6(SACS):c.3915T>C (p.His1305=) rs767598017
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr) rs146451611
NM_014363.6(SACS):c.4117_4118delinsCT (p.Ala1373Leu) rs797045938
NM_014363.6(SACS):c.4188C>T (p.His1396=) rs61754477
NM_014363.6(SACS):c.4255A>G (p.Ile1419Val)
NM_014363.6(SACS):c.4299G>A (p.Trp1433Ter)
NM_014363.6(SACS):c.4302A>G (p.Leu1434=) rs34559250
NM_014363.6(SACS):c.4318A>G (p.Ser1440Gly) rs1172044277
NM_014363.6(SACS):c.434C>G (p.Ser145Ter) rs994374354
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630
NM_014363.6(SACS):c.4522A>C (p.Asn1508His) rs144653411
NM_014363.6(SACS):c.4612A>G (p.Ile1538Val) rs544249449
NM_014363.6(SACS):c.4628A>G (p.Glu1543Gly) rs370324250
NM_014363.6(SACS):c.4639A>T (p.Arg1547Trp) rs772907934
NM_014363.6(SACS):c.477C>T (p.Tyr159=)
NM_014363.6(SACS):c.47G>T (p.Gly16Val) rs886050090
NM_014363.6(SACS):c.482A>G (p.Asn161Ser)
NM_014363.6(SACS):c.4840T>C (p.Phe1614Leu)
NM_014363.6(SACS):c.4899A>T (p.Val1633=)
NM_014363.6(SACS):c.4913G>A (p.Ser1638Asn)
NM_014363.6(SACS):c.4916A>G (p.Tyr1639Cys) rs1566068293
NM_014363.6(SACS):c.4936C>A (p.Leu1646Met) rs200810800
NM_014363.6(SACS):c.494C>T (p.Thr165Ile) rs1419027987
NM_014363.6(SACS):c.4985C>T (p.Thr1662Met) rs139387396
NM_014363.6(SACS):c.5151dup (p.Ser1718fs) rs754439135
NM_014363.6(SACS):c.5307T>C (p.His1769=) rs145747008
NM_014363.6(SACS):c.5337G>A (p.Ser1779=)
NM_014363.6(SACS):c.5391G>C (p.Lys1797Asn) rs144715822
NM_014363.6(SACS):c.5419G>A (p.Glu1807Lys) rs375805688
NM_014363.6(SACS):c.5428C>T (p.Gln1810Ter)
NM_014363.6(SACS):c.5461T>C (p.Cys1821Arg) rs376680832
NM_014363.6(SACS):c.5583G>C (p.Trp1861Cys) rs140678034
NM_014363.6(SACS):c.5671G>C (p.Ala1891Pro)
NM_014363.6(SACS):c.5732C>T (p.Thr1911Met) rs368494148
NM_014363.6(SACS):c.5744A>G (p.His1915Arg) rs144822691
NM_014363.6(SACS):c.5832A>G (p.Ala1944=) rs374169472
NM_014363.6(SACS):c.5841C>T (p.Pro1947=) rs145371235
NM_014363.6(SACS):c.593A>G (p.Tyr198Cys) rs1461096954
NM_014363.6(SACS):c.5946A>G (p.Gly1982=) rs746358078
NM_014363.6(SACS):c.6030G>T (p.Lys2010Asn) rs769751841
NM_014363.6(SACS):c.6051G>C (p.Lys2017Asn) rs35865691
NM_014363.6(SACS):c.6059G>A (p.Gly2020Glu) rs747566710
NM_014363.6(SACS):c.6084A>T (p.Glu2028Asp) rs149018756
NM_014363.6(SACS):c.6178G>C (p.Val2060Leu) rs373226693
NM_014363.6(SACS):c.6195T>C (p.Ile2065=) rs4143768
NM_014363.6(SACS):c.6266C>T (p.Ser2089Leu) rs370095300
NM_014363.6(SACS):c.6267G>A (p.Ser2089=) rs9550956
NM_014363.6(SACS):c.6336A>C (p.Arg2112Ser) rs80132141
NM_014363.6(SACS):c.6349G>A (p.Glu2117Lys) rs754033201
NM_014363.6(SACS):c.6364A>G (p.Lys2122Glu) rs755723511
NM_014363.6(SACS):c.6406A>T (p.Thr2136Ser) rs1566066009
NM_014363.6(SACS):c.6435G>C (p.Leu2145Phe) rs1593128652
NM_014363.6(SACS):c.6456T>C (p.Gly2152=) rs747925179
NM_014363.6(SACS):c.6515A>C (p.Glu2172Ala) rs1566065814
NM_014363.6(SACS):c.6518T>C (p.Ile2173Thr) rs368624188
NM_014363.6(SACS):c.6565T>G (p.Leu2189Val) rs771923767
NM_014363.6(SACS):c.6632A>G (p.Gln2211Arg)
NM_014363.6(SACS):c.6702T>A (p.Phe2234Leu)
NM_014363.6(SACS):c.6730G>A (p.Asp2244Asn)
NM_014363.6(SACS):c.6776C>T (p.Pro2259Leu) rs150098233
NM_014363.6(SACS):c.6778A>G (p.Ile2260Val)
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile) rs146722795
NM_014363.6(SACS):c.6859A>C (p.Lys2287Gln) rs1397588851
NM_014363.6(SACS):c.6932A>G (p.Tyr2311Cys) rs1566065185
NM_014363.6(SACS):c.6952G>A (p.Ala2318Thr) rs147949881
NM_014363.6(SACS):c.6993A>T (p.Glu2331Asp) rs759201960
NM_014363.6(SACS):c.699del (p.Asp235fs)
NM_014363.6(SACS):c.7140T>A (p.Asn2380Lys) rs61754478
NM_014363.6(SACS):c.7149C>T (p.Arg2383=) rs17078608
NM_014363.6(SACS):c.7162_7163del (p.Thr2388fs) rs1555251539
NM_014363.6(SACS):c.7165G>A (p.Val2389Met) rs142869943
NM_014363.6(SACS):c.7171G>A (p.Val2391Met) rs760087813
NM_014363.6(SACS):c.7210T>G (p.Leu2404Val) rs1593127760
NM_014363.6(SACS):c.7262T>A (p.Phe2421Tyr) rs1213144547
NM_014363.6(SACS):c.7282A>G (p.Ile2428Val) rs1007936574
NM_014363.6(SACS):c.7374del (p.Met2459fs)
NM_014363.6(SACS):c.7384C>T (p.Pro2462Ser) rs78239814
NM_014363.6(SACS):c.7406A>G (p.Asn2469Ser)
NM_014363.6(SACS):c.751G>A (p.Val251Ile)
NM_014363.6(SACS):c.7527T>C (p.Tyr2509=) rs140034972
NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr) rs111920492
NM_014363.6(SACS):c.7644G>C (p.Glu2548Asp)
NM_014363.6(SACS):c.7725A>T (p.Ile2575=) rs200735789
NM_014363.6(SACS):c.7737G>A (p.Lys2579=) rs139279302
NM_014363.6(SACS):c.7763T>A (p.Leu2588His) rs1555251328
NM_014363.6(SACS):c.789C>T (p.Asn263=) rs771920263
NM_014363.6(SACS):c.8022T>C (p.Phe2674=) rs34928783
NM_014363.6(SACS):c.8022T>G (p.Phe2674Leu) rs34928783
NM_014363.6(SACS):c.8080A>T (p.Asn2694Tyr) rs1390533003
NM_014363.6(SACS):c.810T>G (p.Phe270Leu) rs116907814
NM_014363.6(SACS):c.8127A>C (p.Lys2709Asn) rs78827970
NM_014363.6(SACS):c.8192G>A (p.Arg2731His)
NM_014363.6(SACS):c.8233G>A (p.Glu2745Lys)
NM_014363.6(SACS):c.8238_8239dup (p.Ile2747fs)
NM_014363.6(SACS):c.8315G>C (p.Gly2772Ala) rs763504656
NM_014363.6(SACS):c.8330G>A (p.Arg2777Lys)
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys) rs111540787
NM_014363.6(SACS):c.8344_8345delinsAT (p.Ala2782Ile) rs386768924
NM_014363.6(SACS):c.8356G>C (p.Asp2786His) rs753607639
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) rs140551762
NM_014363.6(SACS):c.8414C>T (p.Thr2805Ile) rs772742353
NM_014363.6(SACS):c.8451G>A (p.Thr2817=) rs749291377
NM_014363.6(SACS):c.8539C>G (p.Leu2847Val) rs760976439
NM_014363.6(SACS):c.861C>T (p.Tyr287=) rs200877272
NM_014363.6(SACS):c.8793del (p.Lys2931fs) rs767871841
NM_014363.6(SACS):c.8793dup (p.Arg2932fs)
NM_014363.6(SACS):c.8836A>G (p.Asn2946Asp) rs184407783
NM_014363.6(SACS):c.8853T>C (p.Val2951=) rs9552929
NM_014363.6(SACS):c.8873A>G (p.Lys2958Arg) rs11839380
NM_014363.6(SACS):c.8889C>A (p.Phe2963Leu) rs776647599
NM_014363.6(SACS):c.8971C>T (p.Arg2991Cys) rs759112797
NM_014363.6(SACS):c.8972G>A (p.Arg2991His) rs192610957
NM_014363.6(SACS):c.9173T>G (p.Leu3058Arg) rs758654165
NM_014363.6(SACS):c.9332del (p.Asn3111fs)
NM_014363.6(SACS):c.9333T>C (p.Asn3111=) rs150532740
NM_014363.6(SACS):c.9359G>T (p.Arg3120Leu) rs569955570
NM_014363.6(SACS):c.9404T>C (p.Leu3135Ser) rs371019314
NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter) rs202199411
NM_014363.6(SACS):c.9519T>G (p.Phe3173Leu)
NM_014363.6(SACS):c.9550C>T (p.Arg3184Cys) rs143557803
NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu) rs137905181
NM_014363.6(SACS):c.9677A>G (p.Tyr3226Cys) rs776143384
NM_014363.6(SACS):c.9680A>C (p.Lys3227Thr) rs765635417
NM_014363.6(SACS):c.973G>A (p.Gly325Arg) rs144303334
NM_014363.6(SACS):c.9754A>G (p.Ser3252Gly) rs1593124621
NM_014363.6(SACS):c.9846A>G (p.Pro3282=) rs61753111
NM_014363.6(SACS):c.9852A>G (p.Thr3284=) rs147506904
NM_014363.6(SACS):c.9981T>C (p.Ala3327=) rs2737700
NM_014363.6(SACS):c.99T>C (p.Asp33=) rs775206528

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