ClinVar Miner

List of variants in gene SACS studied for not provided

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Gene type:
ClinVar version:
Total variants: 171
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HGVS dbSNP
NM_014363.4(SACS):c.7276C>T rs786204750
NM_014363.6(SACS):c.10106T>C (p.Val3369Ala) rs17078605
NM_014363.6(SACS):c.10118C>T (p.Thr3373Ile) rs200591364
NM_014363.6(SACS):c.10181A>G (p.Asn3394Ser)
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.10338G>A (p.Gln3446=) rs2737701
NM_014363.6(SACS):c.1033C>T (p.Arg345Trp) rs776156836
NM_014363.6(SACS):c.10461_10462delinsAA (p.Asn3487_Leu3488delinsLysIle) rs886043821
NM_014363.6(SACS):c.10611A>G (p.Ala3537=) rs137856939
NM_014363.6(SACS):c.10668G>A (p.Leu3556=) rs139517699
NM_014363.6(SACS):c.1066A>C (p.Ile356Leu) rs148286091
NM_014363.6(SACS):c.10822_10823del (p.Ser3608fs) rs1555250082
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.110G>A (p.Arg37His) rs866539724
NM_014363.6(SACS):c.11152G>A (p.Glu3718Lys) rs750040557
NM_014363.6(SACS):c.11161G>A (p.Gly3721Ser)
NM_014363.6(SACS):c.11380G>T (p.Val3794Phe)
NM_014363.6(SACS):c.11703T>C (p.Asn3901=) rs146154135
NM_014363.6(SACS):c.11737G>C (p.Asp3913His) rs746782589
NM_014363.6(SACS):c.11781G>A (p.Ala3927=)
NM_014363.6(SACS):c.11899C>G (p.Gln3967Glu) rs1261408099
NM_014363.6(SACS):c.11942A>G (p.Gln3981Arg) rs747314113
NM_014363.6(SACS):c.12028C>T (p.Gln4010Ter) rs148297332
NM_014363.6(SACS):c.1202G>A (p.Arg401Gln) rs749599838
NM_014363.6(SACS):c.12148T>C (p.Phe4050Leu)
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter) rs281865120
NM_014363.6(SACS):c.12260A>G (p.Tyr4087Cys)
NM_014363.6(SACS):c.12304T>C (p.Leu4102=) rs2737699
NM_014363.6(SACS):c.1255A>G (p.Ile419Val) rs767818359
NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp) rs35799469
NM_014363.6(SACS):c.12813T>G (p.Pro4271=) rs146376949
NM_014363.6(SACS):c.13027G>A (p.Glu4343Lys) rs749383532
NM_014363.6(SACS):c.13036G>A (p.Asp4346Asn) rs372359781
NM_014363.6(SACS):c.13615C>T (p.Pro4539Ser) rs1555249106
NM_014363.6(SACS):c.13717A>C (p.Asn4573His) rs34382952
NM_014363.6(SACS):c.13736_13737TG[1] (p.Ter4580LysextTer?) rs776682685
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile) rs61729954
NM_014363.6(SACS):c.1463C>T (p.Pro488Leu) rs375875022
NM_014363.6(SACS):c.1607C>T (p.Pro536Leu) rs1440541889
NM_014363.6(SACS):c.1656A>G (p.Leu552=) rs1536365
NM_014363.6(SACS):c.1662C>T (p.Ser554=)
NM_014363.6(SACS):c.1672C>T (p.Gln558Ter) rs923921184
NM_014363.6(SACS):c.171+6C>T rs3751368
NM_014363.6(SACS):c.1839G>A (p.Gln613=) rs35840595
NM_014363.6(SACS):c.1846G>C (p.Ala616Pro)
NM_014363.6(SACS):c.1885G>A (p.Ala629Thr) rs149638449
NM_014363.6(SACS):c.1906C>T (p.Arg636Trp) rs201752905
NM_014363.6(SACS):c.1917A>G (p.Ala639=) rs138457742
NM_014363.6(SACS):c.2024A>G (p.Asn675Ser)
NM_014363.6(SACS):c.2080G>A (p.Ala694Thr) rs17325713
NM_014363.6(SACS):c.2146C>T (p.His716Tyr) rs146852400
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter) rs752059006
NM_014363.6(SACS):c.2233C>T (p.Arg745Cys)
NM_014363.6(SACS):c.2471C>T (p.Ser824Leu)
NM_014363.6(SACS):c.2475dup (p.Val826fs) rs1555252909
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=)
NM_014363.6(SACS):c.260-9G>A rs376676263
NM_014363.6(SACS):c.2602A>G (p.Ile868Val) rs142284018
NM_014363.6(SACS):c.2643G>C (p.Glu881Asp) rs200517685
NM_014363.6(SACS):c.2681C>T (p.Ser894Leu) rs201857647
NM_014363.6(SACS):c.2776A>G (p.Ile926Val)
NM_014363.6(SACS):c.2926C>A (p.Arg976Ser) rs139993038
NM_014363.6(SACS):c.2929C>T (p.Leu977=)
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.2996T>C (p.Ile999Thr) rs371869943
NM_014363.6(SACS):c.3017A>G (p.His1006Arg)
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.3506G>C (p.Gly1169Ala) rs1443000762
NM_014363.6(SACS):c.3700T>A (p.Trp1234Arg) rs1192682879
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr) rs146451611
NM_014363.6(SACS):c.4118C>T (p.Ala1373Val) rs61548169
NM_014363.6(SACS):c.414C>G (p.Tyr138Ter) rs199474695
NM_014363.6(SACS):c.4188C>T (p.His1396=) rs61754477
NM_014363.6(SACS):c.4232T>G (p.Leu1411Ter) rs867249938
NM_014363.6(SACS):c.4265_4274dup (p.Ile1426_Pro1427insAlaTer) rs1555252433
NM_014363.6(SACS):c.4279C>A (p.Pro1427Thr) rs527513599
NM_014363.6(SACS):c.4469C>G (p.Ala1490Gly) rs886043557
NM_014363.6(SACS):c.4598C>G (p.Ser1533Ter) rs886041813
NM_014363.6(SACS):c.4604T>G (p.Phe1535Cys) rs1566068804
NM_014363.6(SACS):c.4606G>T (p.Val1536Leu) rs764832688
NM_014363.6(SACS):c.4747C>A (p.Pro1583Thr) rs1566068552
NM_014363.6(SACS):c.47G>T (p.Gly16Val) rs886050090
NM_014363.6(SACS):c.4877_4880del (p.Gly1626fs) rs757872635
NM_014363.6(SACS):c.4916A>G (p.Tyr1639Cys) rs1566068293
NM_014363.6(SACS):c.494C>T (p.Thr165Ile) rs1419027987
NM_014363.6(SACS):c.4985C>T (p.Thr1662Met)
NM_014363.6(SACS):c.5063_5064AG[1] (p.Ser1689fs) rs1372213267
NM_014363.6(SACS):c.5151dup (p.Ser1718fs) rs754439135
NM_014363.6(SACS):c.5263_5264del (p.Lys1755fs) rs199474696
NM_014363.6(SACS):c.5431A>T (p.Lys1811Ter) rs1085307587
NM_014363.6(SACS):c.5732C>T (p.Thr1911Met) rs368494148
NM_014363.6(SACS):c.5744A>G (p.His1915Arg)
NM_014363.6(SACS):c.5842G>A (p.Asp1948Asn) rs772515267
NM_014363.6(SACS):c.5848G>A (p.Asp1950Asn) rs370902090
NM_014363.6(SACS):c.6008A>T (p.Asp2003Val) rs537408260
NM_014363.6(SACS):c.6044A>C (p.Tyr2015Ser) rs1131691664
NM_014363.6(SACS):c.6051G>C (p.Lys2017Asn) rs35865691
NM_014363.6(SACS):c.6178G>C (p.Val2060Leu)
NM_014363.6(SACS):c.6195T>C (p.Ile2065=) rs4143768
NM_014363.6(SACS):c.623G>T (p.Ser208Ile) rs911764681
NM_014363.6(SACS):c.6240T>C (p.Val2080=) rs550680855
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.6406A>T (p.Thr2136Ser) rs1566066009
NM_014363.6(SACS):c.6456T>C (p.Gly2152=)
NM_014363.6(SACS):c.6485A>G (p.Asp2162Gly) rs369388933
NM_014363.6(SACS):c.6512C>G (p.Ala2171Gly) rs765626875
NM_014363.6(SACS):c.6515A>C (p.Glu2172Ala) rs1566065814
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.696T>A (p.Asn232Lys) rs2031640
NM_014363.6(SACS):c.6993A>T (p.Glu2331Asp)
NM_014363.6(SACS):c.712A>T (p.Lys238Ter) rs764585158
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.7171G>A (p.Val2391Met)
NM_014363.6(SACS):c.7273C>T (p.Arg2425Ter) rs145766983
NM_014363.6(SACS):c.7282A>G (p.Ile2428Val)
NM_014363.6(SACS):c.7288G>A (p.Glu2430Lys) rs201798841
NM_014363.6(SACS):c.7384C>T (p.Pro2462Ser) rs78239814
NM_014363.6(SACS):c.7466C>A (p.Pro2489His) rs766553685
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.7737G>A (p.Lys2579=) rs139279302
NM_014363.6(SACS):c.8022T>C (p.Phe2674=) 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.8133G>A (p.Ser2711=) rs143386746
NM_014363.6(SACS):c.8142G>A (p.Ser2714=) rs530250252
NM_014363.6(SACS):c.8245A>G (p.Ile2749Val) rs186436335
NM_014363.6(SACS):c.8269G>A (p.Gly2757Arg) rs1085307756
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys) rs111540787
NM_014363.6(SACS):c.8344G>A (p.Ala2782Thr) rs61742502
NM_014363.6(SACS):c.8344_8345delinsAT (p.Ala2782Ile) rs386768924
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.8539C>G (p.Leu2847Val)
NM_014363.6(SACS):c.8577C>T (p.His2859=) rs140016265
NM_014363.6(SACS):c.8793del (p.Lys2931fs) rs767871841
NM_014363.6(SACS):c.8836A>G (p.Asn2946Asp) rs184407783
NM_014363.6(SACS):c.8844del (p.Ile2949fs) rs281865117
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.8899C>A (p.Arg2967Ser) rs746834684
NM_014363.6(SACS):c.8972G>A (p.Arg2991His) rs192610957
NM_014363.6(SACS):c.909A>G (p.Ala303=) rs41315020
NM_014363.6(SACS):c.9286G>A (p.Ala3096Thr) rs1085307569
NM_014363.6(SACS):c.9305T>A (p.Leu3102Ter) rs886041949
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.9537_9541del (p.Glu3179fs) rs1064796097
NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu)
NM_014363.6(SACS):c.9680A>C (p.Lys3227Thr)
NM_014363.6(SACS):c.972C>A (p.Asp324Glu) rs546652936
NM_014363.6(SACS):c.9731T>A (p.Leu3244His) rs886042769
NM_014363.6(SACS):c.973G>A (p.Gly325Arg) rs144303334
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

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