ClinVar Miner

List of variants in gene SACS reported as uncertain significance for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 431
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014363.6(SACS):c.-531G>A rs73154650 0.02896
NM_014363.6(SACS):c.*916T>A rs75389729 0.00926
NM_014363.6(SACS):c.7384C>T (p.Pro2462Ser) rs78239814 0.00525
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630 0.00521
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys) rs111540787 0.00332
NM_014363.6(SACS):c.13717A>C (p.Asn4573His) rs34382952 0.00326
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile) rs61729954 0.00227
NM_014363.6(SACS):c.*777T>C rs77645021 0.00211
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr) rs146451611 0.00197
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) rs140551762 0.00178
NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr) rs111920492 0.00131
NM_014363.6(SACS):c.9852A>G (p.Thr3284=) rs147506904 0.00099
NM_014363.6(SACS):c.3074A>T (p.Asn1025Ile) rs150981983 0.00097
NM_014363.6(SACS):c.1378C>T (p.Leu460Phe) rs145213666 0.00091
NM_014363.6(SACS):c.1917A>G (p.Ala639=) rs138457742 0.00084
NM_014363.6(SACS):c.8972G>A (p.Arg2991His) rs192610957 0.00084
NM_014363.6(SACS):c.1885G>A (p.Ala629Thr) rs149638449 0.00071
NM_014363.6(SACS):c.10668G>A (p.Leu3556=) rs139517699 0.00070
NM_014363.6(SACS):c.2234G>A (p.Arg745His) rs143677534 0.00067
NM_014363.6(SACS):c.12148T>C (p.Phe4050Leu) rs147013767 0.00060
NM_014363.6(SACS):c.4985C>T (p.Thr1662Met) rs139387396 0.00054
NM_014363.6(SACS):c.2602A>G (p.Ile868Val) rs142284018 0.00040
NM_014363.6(SACS):c.1278A>T (p.Leu426Phe) rs138413501 0.00036
NM_014363.6(SACS):c.1562G>C (p.Ser521Thr) rs190617851 0.00032
NM_014363.6(SACS):c.5583G>C (p.Trp1861Cys) rs140678034 0.00032
NM_014363.6(SACS):c.2580A>G (p.Gln860=) rs41283958 0.00031
NM_014363.6(SACS):c.439G>C (p.Asp147His) rs202226274 0.00031
NM_014363.6(SACS):c.*222T>C rs577703833 0.00029
NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu) rs137905181 0.00029
NM_014363.6(SACS):c.1273C>A (p.Pro425Thr) rs142024534 0.00026
NM_014363.6(SACS):c.2806C>A (p.Gln936Lys) rs61978562 0.00024
NM_014363.6(SACS):c.6952G>A (p.Ala2318Thr) rs147949881 0.00022
NM_014363.6(SACS):c.973G>A (p.Gly325Arg) rs144303334 0.00021
NM_014363.6(SACS):c.9275A>T (p.Tyr3092Phe) rs139579036 0.00020
NM_014363.6(SACS):c.4757A>G (p.Asn1586Ser) rs201558584 0.00019
NM_014363.6(SACS):c.7140T>A (p.Asn2380Lys) rs61754478 0.00019
NM_014363.6(SACS):c.2492A>G (p.Glu831Gly) rs375968367 0.00017
NM_014363.6(SACS):c.6640C>T (p.Arg2214Cys) rs138379074 0.00017
NM_014363.6(SACS):c.11703T>C (p.Asn3901=) rs146154135 0.00016
NM_014363.6(SACS):c.11048A>G (p.Asn3683Ser) rs138609508 0.00014
NM_014363.6(SACS):c.2329T>C (p.Ser777Pro) rs147837803 0.00014
NM_014363.6(SACS):c.1219C>A (p.Leu407Ile) rs201569239 0.00013
NM_014363.6(SACS):c.8245A>G (p.Ile2749Val) rs186436335 0.00013
NM_014363.6(SACS):c.2294A>G (p.Tyr765Cys) rs141553858 0.00012
NM_014363.6(SACS):c.5391G>C (p.Lys1797Asn) rs144715822 0.00012
NM_014363.6(SACS):c.7641A>G (p.Lys2547=) rs780021681 0.00012
NM_014363.6(SACS):c.1033C>T (p.Arg345Trp) rs776156836 0.00011
NM_014363.6(SACS):c.13036G>A (p.Asp4346Asn) rs372359781 0.00011
NM_014363.6(SACS):c.2681C>T (p.Ser894Leu) rs201857647 0.00011
NM_014363.6(SACS):c.4936C>A (p.Leu1646Met) rs200810800 0.00011
NM_014363.6(SACS):c.5903C>T (p.Ala1968Val) rs201866523 0.00011
NM_014363.6(SACS):c.7288G>A (p.Glu2430Lys) rs201798841 0.00011
NM_014363.6(SACS):c.2643G>C (p.Glu881Asp) rs200517685 0.00010
NM_014363.6(SACS):c.12260A>G (p.Tyr4087Cys) rs373478772 0.00009
NM_014363.6(SACS):c.1255A>G (p.Ile419Val) rs767818359 0.00009
NM_014363.6(SACS):c.1463C>T (p.Pro488Leu) rs375875022 0.00009
NM_014363.6(SACS):c.2996T>C (p.Ile999Thr) rs371869943 0.00009
NM_014363.6(SACS):c.5744A>G (p.His1915Arg) rs144822691 0.00009
NM_014363.6(SACS):c.13027G>A (p.Glu4343Lys) rs749383532 0.00008
NM_014363.6(SACS):c.7394C>T (p.Ser2465Leu) rs747676277 0.00008
NM_014363.6(SACS):c.11066C>A (p.Pro3689Gln) rs148925505 0.00007
NM_014363.6(SACS):c.175T>A (p.Ser59Thr) rs539836931 0.00007
NM_014363.6(SACS):c.6178G>C (p.Val2060Leu) rs373226693 0.00007
NM_014363.6(SACS):c.6266C>T (p.Ser2089Leu) rs370095300 0.00007
NM_014363.6(SACS):c.9791C>G (p.Thr3264Arg) rs758563983 0.00007
NM_014363.6(SACS):c.10954C>A (p.Pro3652Thr) rs201505036 0.00006
NM_014363.6(SACS):c.11717C>T (p.Ala3906Val) rs375961779 0.00006
NM_014363.6(SACS):c.12190C>A (p.Pro4064Thr) rs200707453 0.00006
NM_014363.6(SACS):c.13106A>G (p.Asp4369Gly) rs770895110 0.00006
NM_014363.6(SACS):c.2024A>G (p.Asn675Ser) rs146395198 0.00006
NM_014363.6(SACS):c.2423T>C (p.Leu808Pro) rs923118368 0.00006
NM_014363.6(SACS):c.2551G>T (p.Val851Phe) rs756890722 0.00006
NM_014363.6(SACS):c.432G>T (p.Trp144Cys) rs368570790 0.00006
NM_014363.6(SACS):c.6364A>G (p.Lys2122Glu) rs755723511 0.00006
NM_014363.6(SACS):c.1202G>A (p.Arg401Gln) rs749599838 0.00005
NM_014363.6(SACS):c.1613C>T (p.Ala538Val) rs368043113 0.00005
NM_014363.6(SACS):c.6349G>A (p.Glu2117Lys) rs754033201 0.00005
NM_014363.6(SACS):c.10118C>T (p.Thr3373Ile) rs200591364 0.00004
NM_014363.6(SACS):c.10256G>A (p.Arg3419His) rs536675517 0.00004
NM_014363.6(SACS):c.10576A>G (p.Ile3526Val) rs199881455 0.00004
NM_014363.6(SACS):c.10737G>A (p.Met3579Ile) rs199970621 0.00004
NM_014363.6(SACS):c.11161G>A (p.Gly3721Ser) rs780789569 0.00004
NM_014363.6(SACS):c.11276C>T (p.Thr3759Met) rs751176093 0.00004
NM_014363.6(SACS):c.11301A>T (p.Lys3767Asn) rs762041995 0.00004
NM_014363.6(SACS):c.12367A>G (p.Met4123Val) rs772068772 0.00004
NM_014363.6(SACS):c.12968C>T (p.Ser4323Leu) rs150225486 0.00004
NM_014363.6(SACS):c.1387C>A (p.His463Asn) rs149951538 0.00004
NM_014363.6(SACS):c.1913G>A (p.Cys638Tyr) rs778572943 0.00004
NM_014363.6(SACS):c.4255A>G (p.Ile1419Val) rs138245586 0.00004
NM_014363.6(SACS):c.4724G>A (p.Arg1575Gln) rs764992284 0.00004
NM_014363.6(SACS):c.5971G>A (p.Val1991Ile) rs191995849 0.00004
NM_014363.6(SACS):c.7147C>T (p.Arg2383Cys) rs772611372 0.00004
NM_014363.6(SACS):c.7150G>A (p.Glu2384Lys) rs762896797 0.00004
NM_014363.6(SACS):c.7916T>C (p.Ile2639Thr) rs202144442 0.00004
NM_014363.6(SACS):c.8192G>A (p.Arg2731His) rs201127191 0.00004
NM_014363.6(SACS):c.8315G>C (p.Gly2772Ala) rs763504656 0.00004
NM_014363.6(SACS):c.8336A>T (p.Gln2779Leu) rs749327297 0.00004
NM_014363.6(SACS):c.9031A>G (p.Ile3011Val) rs377657177 0.00004
NM_014363.6(SACS):c.9251T>C (p.Ile3084Thr) rs149290718 0.00004
NM_014363.6(SACS):c.10181A>G (p.Asn3394Ser) rs375898103 0.00003
NM_014363.6(SACS):c.10255C>T (p.Arg3419Cys) rs765758197 0.00003
NM_014363.6(SACS):c.10675C>G (p.Pro3559Ala) rs767704103 0.00003
NM_014363.6(SACS):c.10787C>T (p.Ser3596Phe) rs755172172 0.00003
NM_014363.6(SACS):c.11309C>G (p.Ala3770Gly) rs1170997950 0.00003
NM_014363.6(SACS):c.11886A>G (p.Ile3962Met) rs1252737332 0.00003
NM_014363.6(SACS):c.12665G>A (p.Gly4222Glu) rs774349752 0.00003
NM_014363.6(SACS):c.1906C>T (p.Arg636Trp) rs201752905 0.00003
NM_014363.6(SACS):c.2853C>A (p.His951Gln) rs200644511 0.00003
NM_014363.6(SACS):c.3052G>A (p.Glu1018Lys) rs770999085 0.00003
NM_014363.6(SACS):c.4318A>G (p.Ser1440Gly) rs1172044277 0.00003
NM_014363.6(SACS):c.5842G>A (p.Asp1948Asn) rs772515267 0.00003
NM_014363.6(SACS):c.8142G>A (p.Ser2714=) rs530250252 0.00003
NM_014363.6(SACS):c.8539C>G (p.Leu2847Val) rs760976439 0.00003
NM_014363.6(SACS):c.10622A>G (p.Tyr3541Cys) rs747013127 0.00002
NM_014363.6(SACS):c.11249A>G (p.Asn3750Ser) rs376188585 0.00002
NM_014363.6(SACS):c.11302A>G (p.Thr3768Ala) rs774463808 0.00002
NM_014363.6(SACS):c.11380G>T (p.Val3794Phe) rs753844954 0.00002
NM_014363.6(SACS):c.11776G>A (p.Asp3926Asn) rs756252903 0.00002
NM_014363.6(SACS):c.11942A>G (p.Gln3981Arg) rs747314113 0.00002
NM_014363.6(SACS):c.12130G>C (p.Gly4044Arg) rs753511073 0.00002
NM_014363.6(SACS):c.1310C>T (p.Thr437Met) rs199657817 0.00002
NM_014363.6(SACS):c.2686C>T (p.Leu896Phe) rs760556327 0.00002
NM_014363.6(SACS):c.494C>T (p.Thr165Ile) rs1419027987 0.00002
NM_014363.6(SACS):c.4955A>G (p.Gln1652Arg) rs148824690 0.00002
NM_014363.6(SACS):c.5323G>A (p.Ala1775Thr) rs1002701621 0.00002
NM_014363.6(SACS):c.5630G>A (p.Arg1877Gln) rs772866081 0.00002
NM_014363.6(SACS):c.6240T>C (p.Val2080=) rs550680855 0.00002
NM_014363.6(SACS):c.6518T>C (p.Ile2173Thr) rs368624188 0.00002
NM_014363.6(SACS):c.7171G>A (p.Val2391Met) rs760087813 0.00002
NM_014363.6(SACS):c.7466C>A (p.Pro2489His) rs766553685 0.00002
NM_014363.6(SACS):c.9805G>A (p.Asp3269Asn) rs754144089 0.00002
NM_014363.6(SACS):c.10276T>C (p.Phe3426Leu) rs1883631517 0.00001
NM_014363.6(SACS):c.10415A>G (p.Asp3472Gly) rs759801095 0.00001
NM_014363.6(SACS):c.10907G>A (p.Arg3636Gln) rs281865119 0.00001
NM_014363.6(SACS):c.11207T>C (p.Met3736Thr) rs759433888 0.00001
NM_014363.6(SACS):c.11624G>A (p.Arg3875His) rs863224916 0.00001
NM_014363.6(SACS):c.11737G>C (p.Asp3913His) rs746782589 0.00001
NM_014363.6(SACS):c.11887A>G (p.Met3963Val) rs375613914 0.00001
NM_014363.6(SACS):c.11899C>G (p.Gln3967Glu) rs1261408099 0.00001
NM_014363.6(SACS):c.13273G>A (p.Gly4425Arg) rs754693143 0.00001
NM_014363.6(SACS):c.13282T>G (p.Tyr4428Asp) rs886050071 0.00001
NM_014363.6(SACS):c.1846G>C (p.Ala616Pro) rs200437752 0.00001
NM_014363.6(SACS):c.1907G>A (p.Arg636Gln) rs368944813 0.00001
NM_014363.6(SACS):c.2092A>T (p.Arg698Trp) rs965068037 0.00001
NM_014363.6(SACS):c.2233C>T (p.Arg745Cys) rs536614181 0.00001
NM_014363.6(SACS):c.2471C>T (p.Ser824Leu) rs762821420 0.00001
NM_014363.6(SACS):c.2585C>T (p.Pro862Leu) rs776290829 0.00001
NM_014363.6(SACS):c.2611C>T (p.Pro871Ser) rs370103461 0.00001
NM_014363.6(SACS):c.3017A>G (p.His1006Arg) rs368149368 0.00001
NM_014363.6(SACS):c.3346G>A (p.Gly1116Ser) rs774044532 0.00001
NM_014363.6(SACS):c.3506G>C (p.Gly1169Ala) rs1443000762 0.00001
NM_014363.6(SACS):c.3868G>T (p.Ala1290Ser) rs757939935 0.00001
NM_014363.6(SACS):c.4597T>G (p.Ser1533Ala) rs1230237404 0.00001
NM_014363.6(SACS):c.4628A>G (p.Glu1543Gly) rs370324250 0.00001
NM_014363.6(SACS):c.4639A>T (p.Arg1547Trp) rs772907934 0.00001
NM_014363.6(SACS):c.4665A>C (p.Lys1555Asn) rs769852897 0.00001
NM_014363.6(SACS):c.482A>G (p.Asn161Ser) rs746069731 0.00001
NM_014363.6(SACS):c.4840T>C (p.Phe1614Leu) rs771080306 0.00001
NM_014363.6(SACS):c.4846A>C (p.Asn1616His) rs979327782 0.00001
NM_014363.6(SACS):c.4913G>A (p.Ser1638Asn) rs774163551 0.00001
NM_014363.6(SACS):c.5045G>A (p.Arg1682Lys) rs1269546947 0.00001
NM_014363.6(SACS):c.5732C>T (p.Thr1911Met) rs368494148 0.00001
NM_014363.6(SACS):c.5848G>A (p.Asp1950Asn) rs370902090 0.00001
NM_014363.6(SACS):c.5932G>A (p.Val1978Ile) rs373812430 0.00001
NM_014363.6(SACS):c.593A>G (p.Tyr198Cys) rs1461096954 0.00001
NM_014363.6(SACS):c.623G>T (p.Ser208Ile) rs911764681 0.00001
NM_014363.6(SACS):c.6485A>G (p.Asp2162Gly) rs369388933 0.00001
NM_014363.6(SACS):c.6776C>T (p.Pro2259Leu) rs150098233 0.00001
NM_014363.6(SACS):c.6778A>G (p.Ile2260Val) rs202110208 0.00001
NM_014363.6(SACS):c.6993A>T (p.Glu2331Asp) rs759201960 0.00001
NM_014363.6(SACS):c.7262T>A (p.Phe2421Tyr) rs1213144547 0.00001
NM_014363.6(SACS):c.7282A>G (p.Ile2428Val) rs1007936574 0.00001
NM_014363.6(SACS):c.7406A>G (p.Asn2469Ser) rs1288769278 0.00001
NM_014363.6(SACS):c.7742C>T (p.Ala2581Val) rs866333277 0.00001
NM_014363.6(SACS):c.7819C>A (p.Leu2607Ile) rs753584300 0.00001
NM_014363.6(SACS):c.8108G>A (p.Arg2703His) rs750181262 0.00001
NM_014363.6(SACS):c.8133G>A (p.Ser2711=) rs143386746 0.00001
NM_014363.6(SACS):c.8166G>T (p.Met2722Ile) rs1327898921 0.00001
NM_014363.6(SACS):c.8233G>A (p.Glu2745Lys) rs745462710 0.00001
NM_014363.6(SACS):c.8414C>T (p.Thr2805Ile) rs772742353 0.00001
NM_014363.6(SACS):c.8836A>G (p.Asn2946Asp) rs184407783 0.00001
NM_014363.6(SACS):c.8889C>A (p.Phe2963Leu) rs776647599 0.00001
NM_014363.6(SACS):c.9292A>G (p.Ile3098Val) rs745664974 0.00001
NM_014363.6(SACS):c.9677A>G (p.Tyr3226Cys) rs776143384 0.00001
NM_014363.6(SACS):c.9680A>C (p.Lys3227Thr) rs765635417 0.00001
NM_014363.6(SACS):c.9731T>A (p.Leu3244His) rs886042769 0.00001
NM_014363.6(SACS):c.10124G>C (p.Arg3375Thr) rs776727312
NM_014363.6(SACS):c.10158A>G (p.Ala3386=) rs775633710
NM_014363.6(SACS):c.10238A>G (p.Tyr3413Cys)
NM_014363.6(SACS):c.1028A>G (p.His343Arg)
NM_014363.6(SACS):c.10291G>A (p.Val3431Ile)
NM_014363.6(SACS):c.10372C>T (p.His3458Tyr) rs756117709
NM_014363.6(SACS):c.10454T>C (p.Ile3485Thr)
NM_014363.6(SACS):c.10461_10462delinsAA (p.Asn3487_Leu3488delinsLysIle) rs886043821
NM_014363.6(SACS):c.1061C>G (p.Thr354Ser) rs1425519295
NM_014363.6(SACS):c.1066A>C (p.Ile356Leu) rs148286091
NM_014363.6(SACS):c.1066A>G (p.Ile356Val) rs148286091
NM_014363.6(SACS):c.1067T>C (p.Ile356Thr)
NM_014363.6(SACS):c.10705C>T (p.Leu3569Phe) rs1883603870
NM_014363.6(SACS):c.10730C>A (p.Thr3577Lys)
NM_014363.6(SACS):c.10765A>G (p.Ile3589Val)
NM_014363.6(SACS):c.10766T>C (p.Ile3589Thr)
NM_014363.6(SACS):c.11109C>T (p.Ser3703=) rs1883570677
NM_014363.6(SACS):c.11137C>A (p.Pro3713Thr)
NM_014363.6(SACS):c.11139C>G (p.Pro3713=)
NM_014363.6(SACS):c.11152G>A (p.Glu3718Lys) rs750040557
NM_014363.6(SACS):c.11205T>G (p.Asn3735Lys)
NM_014363.6(SACS):c.11215G>A (p.Val3739Ile) rs1027336196
NM_014363.6(SACS):c.1123G>A (p.Val375Ile)
NM_014363.6(SACS):c.11274_11276del (p.Ile3758_Thr3759delinsMet)
NM_014363.6(SACS):c.11296G>A (p.Val3766Ile)
NM_014363.6(SACS):c.11428G>A (p.Glu3810Lys) rs2137566624
NM_014363.6(SACS):c.11528G>T (p.Gly3843Val)
NM_014363.6(SACS):c.11708G>A (p.Arg3903Gln)
NM_014363.6(SACS):c.11853A>G (p.Leu3951=) rs1883510768
NM_014363.6(SACS):c.11889G>A (p.Met3963Ile)
NM_014363.6(SACS):c.1196G>C (p.Gly399Ala)
NM_014363.6(SACS):c.12173G>A (p.Arg4058Lys)
NM_014363.6(SACS):c.12182G>A (p.Gly4061Asp) rs1883488232
NM_014363.6(SACS):c.12244G>A (p.Ala4082Thr)
NM_014363.6(SACS):c.12271T>C (p.Ser4091Pro)
NM_014363.6(SACS):c.12326C>A (p.Ala4109Glu) rs2137559516
NM_014363.6(SACS):c.12404A>G (p.Lys4135Arg)
NM_014363.6(SACS):c.1240C>G (p.Leu414Val)
NM_014363.6(SACS):c.12493C>G (p.His4165Asp)
NM_014363.6(SACS):c.12533C>T (p.Pro4178Leu)
NM_014363.6(SACS):c.1258A>G (p.Ile420Val)
NM_014363.6(SACS):c.12613A>G (p.Ile4205Val)
NM_014363.6(SACS):c.12618T>C (p.Ile4206=) rs1883457103
NM_014363.6(SACS):c.12811C>T (p.Pro4271Ser)
NM_014363.6(SACS):c.12818T>G (p.Leu4273Arg)
NM_014363.6(SACS):c.12828T>G (p.Ile4276Met)
NM_014363.6(SACS):c.12844G>C (p.Gly4282Arg)
NM_014363.6(SACS):c.12902A>G (p.Asn4301Ser)
NM_014363.6(SACS):c.12905C>G (p.Ser4302Cys)
NM_014363.6(SACS):c.12932C>A (p.Thr4311Lys)
NM_014363.6(SACS):c.12950C>T (p.Ala4317Val)
NM_014363.6(SACS):c.12952T>C (p.Trp4318Arg) rs762499265
NM_014363.6(SACS):c.13038C>A (p.Asp4346Glu) rs2137552312
NM_014363.6(SACS):c.13220G>A (p.Ser4407Asn)
NM_014363.6(SACS):c.13231G>A (p.Glu4411Lys) rs1883408216
NM_014363.6(SACS):c.13244A>G (p.Gln4415Arg)
NM_014363.6(SACS):c.13300G>A (p.Val4434Ile)
NM_014363.6(SACS):c.13316A>G (p.Lys4439Arg)
NM_014363.6(SACS):c.13376C>T (p.Ser4459Leu)
NM_014363.6(SACS):c.13503A>C (p.Lys4501Asn)
NM_014363.6(SACS):c.13520A>G (p.Gln4507Arg)
NM_014363.6(SACS):c.1354C>T (p.Pro452Ser)
NM_014363.6(SACS):c.13610G>A (p.Arg4537Lys)
NM_014363.6(SACS):c.13738_13739del (p.Ter4580LysextTer?) rs776682685
NM_014363.6(SACS):c.1391T>G (p.Ile464Ser) rs1593144937
NM_014363.6(SACS):c.1406G>A (p.Gly469Asp)
NM_014363.6(SACS):c.1485T>G (p.Phe495Leu)
NM_014363.6(SACS):c.1498G>A (p.Val500Ile) rs1244967438
NM_014363.6(SACS):c.1537A>G (p.Ile513Val)
NM_014363.6(SACS):c.1543C>T (p.Arg515Cys)
NM_014363.6(SACS):c.1654C>G (p.Leu552Val)
NM_014363.6(SACS):c.1748A>G (p.Asn583Ser)
NM_014363.6(SACS):c.1969G>T (p.Asp657Tyr) rs2137716974
NM_014363.6(SACS):c.2021G>T (p.Gly674Val) rs770199696
NM_014363.6(SACS):c.2037CTC[1] (p.Ser682del) rs764516069
NM_014363.6(SACS):c.2096C>T (p.Ser699Phe) rs374680967
NM_014363.6(SACS):c.2180C>G (p.Thr727Ser)
NM_014363.6(SACS):c.2182C>G (p.Arg728Gly) rs752059006
NM_014363.6(SACS):c.2186G>A (p.Gly729Glu)
NM_014363.6(SACS):c.2223A>T (p.Glu741Asp)
NM_014363.6(SACS):c.2374G>C (p.Glu792Gln)
NM_014363.6(SACS):c.2428G>C (p.Glu810Gln)
NM_014363.6(SACS):c.2465T>G (p.Ile822Ser)
NM_014363.6(SACS):c.247T>C (p.Leu83=) rs1470292816
NM_014363.6(SACS):c.2562A>T (p.Lys854Asn)
NM_014363.6(SACS):c.2572T>G (p.Ser858Ala)
NM_014363.6(SACS):c.2594A>C (p.Lys865Thr)
NM_014363.6(SACS):c.2599T>C (p.Tyr867His) rs774682589
NM_014363.6(SACS):c.2614_2619del (p.Leu872_Pro873del) rs771746381
NM_014363.6(SACS):c.263G>A (p.Arg88Gln)
NM_014363.6(SACS):c.2704G>A (p.Ala902Thr)
NM_014363.6(SACS):c.2726G>T (p.Ser909Ile) rs2137641417
NM_014363.6(SACS):c.2845G>C (p.Val949Leu) rs1869160064
NM_014363.6(SACS):c.2853C>G (p.His951Gln)
NM_014363.6(SACS):c.2894C>T (p.Ser965Leu)
NM_014363.6(SACS):c.2917G>A (p.Ala973Thr)
NM_014363.6(SACS):c.2926C>A (p.Arg976Ser) rs139993038
NM_014363.6(SACS):c.2997T>A (p.Ile999=) rs1869142388
NM_014363.6(SACS):c.3283G>A (p.Glu1095Lys)
NM_014363.6(SACS):c.328_330delinsAGT (p.Gly110Ser)
NM_014363.6(SACS):c.3292C>T (p.Leu1098Phe) rs1593132851
NM_014363.6(SACS):c.3358G>C (p.Asp1120His)
NM_014363.6(SACS):c.3370C>G (p.Leu1124Val) rs2137636093
NM_014363.6(SACS):c.3385A>C (p.Lys1129Gln)
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys) rs144267558
NM_014363.6(SACS):c.3427C>G (p.Gln1143Glu)
NM_014363.6(SACS):c.3533G>C (p.Cys1178Ser)
NM_014363.6(SACS):c.3613A>G (p.Ile1205Val)
NM_014363.6(SACS):c.3700T>A (p.Trp1234Arg) rs1192682879
NM_014363.6(SACS):c.370G>T (p.Ala124Ser)
NM_014363.6(SACS):c.3853T>G (p.Cys1285Gly) rs2137632086
NM_014363.6(SACS):c.3881C>T (p.Pro1294Leu) rs1593132075
NM_014363.6(SACS):c.3912G>T (p.Leu1304Phe)
NM_014363.6(SACS):c.3915T>C (p.His1305=) rs767598017
NM_014363.6(SACS):c.394T>G (p.Leu132Val)
NM_014363.6(SACS):c.3976G>C (p.Glu1326Gln)
NM_014363.6(SACS):c.4064A>G (p.Asn1355Ser)
NM_014363.6(SACS):c.4114C>G (p.Pro1372Ala) rs771277349
NM_014363.6(SACS):c.4132C>T (p.Pro1378Ser)
NM_014363.6(SACS):c.4139C>G (p.Pro1380Arg)
NM_014363.6(SACS):c.416G>A (p.Gly139Glu)
NM_014363.6(SACS):c.4279C>A (p.Pro1427Thr) rs527513599
NM_014363.6(SACS):c.4349G>T (p.Gly1450Val)
NM_014363.6(SACS):c.4405G>C (p.Glu1469Gln)
NM_014363.6(SACS):c.4469C>G (p.Ala1490Gly) rs886043557
NM_014363.6(SACS):c.4496T>C (p.Met1499Thr)
NM_014363.6(SACS):c.44C>T (p.Pro15Leu)
NM_014363.6(SACS):c.4522A>C (p.Asn1508His) rs144653411
NM_014363.6(SACS):c.4538G>C (p.Gly1513Ala)
NM_014363.6(SACS):c.4546G>A (p.Ala1516Thr)
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.4654A>C (p.Lys1552Gln)
NM_014363.6(SACS):c.4697T>C (p.Ile1566Thr)
NM_014363.6(SACS):c.470A>T (p.Tyr157Phe)
NM_014363.6(SACS):c.4723C>T (p.Arg1575Trp)
NM_014363.6(SACS):c.4747C>A (p.Pro1583Thr) rs1566068552
NM_014363.6(SACS):c.477C>T (p.Tyr159=) rs1870531490
NM_014363.6(SACS):c.4835G>C (p.Arg1612Thr)
NM_014363.6(SACS):c.4880G>A (p.Cys1627Tyr)
NM_014363.6(SACS):c.4916A>G (p.Tyr1639Cys) rs1566068293
NM_014363.6(SACS):c.5079G>A (p.Met1693Ile) rs775069857
NM_014363.6(SACS):c.508C>T (p.His170Tyr)
NM_014363.6(SACS):c.5102A>T (p.Glu1701Val) rs1868909053
NM_014363.6(SACS):c.511G>A (p.Gly171Ser)
NM_014363.6(SACS):c.5149_5151del (p.Lys1717del) rs754439135
NM_014363.6(SACS):c.5162C>T (p.Ser1721Phe)
NM_014363.6(SACS):c.5188A>C (p.Ser1730Arg)
NM_014363.6(SACS):c.5304_5306del (p.His1769del) rs1555252136
NM_014363.6(SACS):c.5316_5318del (p.Arg1773del)
NM_014363.6(SACS):c.5341C>T (p.Leu1781Phe)
NM_014363.6(SACS):c.5462G>A (p.Cys1821Tyr)
NM_014363.6(SACS):c.5470A>G (p.Met1824Val)
NM_014363.6(SACS):c.5615G>C (p.Cys1872Ser)
NM_014363.6(SACS):c.5668T>C (p.Phe1890Leu)
NM_014363.6(SACS):c.5671G>C (p.Ala1891Pro) rs1868843160
NM_014363.6(SACS):c.570T>A (p.Phe190Leu)
NM_014363.6(SACS):c.5711C>G (p.Thr1904Arg) rs758570844
NM_014363.6(SACS):c.5711C>T (p.Thr1904Ile) rs758570844
NM_014363.6(SACS):c.5777G>A (p.Ser1926Asn)
NM_014363.6(SACS):c.5786G>A (p.Arg1929Gln)
NM_014363.6(SACS):c.5828A>G (p.Tyr1943Cys)
NM_014363.6(SACS):c.5849A>C (p.Asp1950Ala) rs375962720
NM_014363.6(SACS):c.5884G>C (p.Gly1962Arg)
NM_014363.6(SACS):c.5935T>G (p.Phe1979Val)
NM_014363.6(SACS):c.6008A>C (p.Asp2003Ala)
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.6149C>G (p.Thr2050Arg)
NM_014363.6(SACS):c.6179T>C (p.Val2060Ala)
NM_014363.6(SACS):c.6278G>A (p.Arg2093His)
NM_014363.6(SACS):c.6343C>T (p.His2115Tyr) rs757161092
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.6502G>T (p.Val2168Leu)
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.653A>G (p.His218Arg)
NM_014363.6(SACS):c.6632A>G (p.Gln2211Arg) rs1044714793
NM_014363.6(SACS):c.6634A>G (p.Thr2212Ala) rs556248979
NM_014363.6(SACS):c.6702T>A (p.Phe2234Leu) rs774487714
NM_014363.6(SACS):c.6730G>A (p.Asp2244Asn) rs1868692401
NM_014363.6(SACS):c.6751C>A (p.Gln2251Lys) rs747293426
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.7210T>G (p.Leu2404Val) rs1593127760
NM_014363.6(SACS):c.727C>G (p.Leu243Val)
NM_014363.6(SACS):c.7282A>C (p.Ile2428Leu)
NM_014363.6(SACS):c.7306A>G (p.Ile2436Val) rs567650774
NM_014363.6(SACS):c.7367C>T (p.Thr2456Ile)
NM_014363.6(SACS):c.744A>G (p.Ala248=) rs1448438600
NM_014363.6(SACS):c.751G>A (p.Val251Ile) rs776176699
NM_014363.6(SACS):c.7644G>C (p.Glu2548Asp) rs1868579030
NM_014363.6(SACS):c.7763T>C (p.Leu2588Pro) rs1555251328
NM_014363.6(SACS):c.7816A>C (p.Asn2606His)
NM_014363.6(SACS):c.7831A>G (p.Thr2611Ala)
NM_014363.6(SACS):c.7880A>G (p.Asn2627Ser)
NM_014363.6(SACS):c.7940T>A (p.Ile2647Asn) rs934642310
NM_014363.6(SACS):c.7959A>T (p.Arg2653Ser)
NM_014363.6(SACS):c.7975A>G (p.Thr2659Ala)
NM_014363.6(SACS):c.7990G>A (p.Gly2664Arg) rs2137595708
NM_014363.6(SACS):c.7993C>T (p.Arg2665Cys)
NM_014363.6(SACS):c.8022T>C (p.Phe2674=) rs34928783
NM_014363.6(SACS):c.8063C>A (p.Thr2688Asn)
NM_014363.6(SACS):c.8080A>T (p.Asn2694Tyr) rs1390533003
NM_014363.6(SACS):c.8269G>A (p.Gly2757Arg) rs1085307756
NM_014363.6(SACS):c.8330G>A (p.Arg2777Lys) rs1868501054
NM_014363.6(SACS):c.8362G>A (p.Val2788Ile)
NM_014363.6(SACS):c.8374A>T (p.Arg2792Trp)
NM_014363.6(SACS):c.8393C>G (p.Pro2798Arg)
NM_014363.6(SACS):c.8426A>C (p.Glu2809Ala)
NM_014363.6(SACS):c.8454G>T (p.Trp2818Cys)
NM_014363.6(SACS):c.8468G>T (p.Arg2823Ile)
NM_014363.6(SACS):c.847A>G (p.Ser283Gly)
NM_014363.6(SACS):c.8495T>C (p.Val2832Ala) rs1593126225
NM_014363.6(SACS):c.8543T>A (p.Phe2848Tyr)
NM_014363.6(SACS):c.8729A>G (p.Asn2910Ser) rs2137589975
NM_014363.6(SACS):c.8795G>A (p.Arg2932Gln)
NM_014363.6(SACS):c.8819C>T (p.Thr2940Ile)
NM_014363.6(SACS):c.8848C>G (p.His2950Asp)
NM_014363.6(SACS):c.8867T>C (p.Leu2956Ser)
NM_014363.6(SACS):c.8899C>A (p.Arg2967Ser) rs746834684
NM_014363.6(SACS):c.8902C>T (p.Leu2968Phe) rs768978881
NM_014363.6(SACS):c.8936A>G (p.Lys2979Arg)
NM_014363.6(SACS):c.8942T>C (p.Leu2981Pro)
NM_014363.6(SACS):c.9043A>G (p.Ile3015Val) rs768103747
NM_014363.6(SACS):c.9232A>C (p.Asn3078His)
NM_014363.6(SACS):c.9245G>A (p.Cys3082Tyr)
NM_014363.6(SACS):c.9286G>A (p.Ala3096Thr) rs1085307569
NM_014363.6(SACS):c.9359G>T (p.Arg3120Leu) rs569955570
NM_014363.6(SACS):c.9412T>G (p.Tyr3138Asp) rs1208382588
NM_014363.6(SACS):c.9438T>A (p.Asn3146Lys)
NM_014363.6(SACS):c.9463C>T (p.Leu3155Phe)
NM_014363.6(SACS):c.9499G>T (p.Asp3167Tyr)
NM_014363.6(SACS):c.9519T>G (p.Phe3173Leu) rs780746393
NM_014363.6(SACS):c.9603G>C (p.Leu3201Phe)
NM_014363.6(SACS):c.9635C>T (p.Ser3212Phe)
NM_014363.6(SACS):c.9656C>T (p.Ser3219Phe)
NM_014363.6(SACS):c.9663G>T (p.Val3221=)
NM_014363.6(SACS):c.972C>A (p.Asp324Glu) rs546652936
NM_014363.6(SACS):c.9754A>G (p.Ser3252Gly) rs1593124621
NM_014363.6(SACS):c.9821C>G (p.Thr3274Ser)
NM_014363.6(SACS):c.9844C>A (p.Pro3282Thr) rs2137580315
NM_014363.6(SACS):c.9905T>C (p.Leu3302Pro) rs2137579752
NM_014363.6(SACS):c.9970C>G (p.Leu3324Val)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.