ClinVar Miner

List of variants in gene SACS reported by Invitae

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Gene type:
ClinVar version:
Total variants: 183
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HGVS dbSNP
NM_014363.6(SACS):c.1004C>A (p.Ser335Ter)
NM_014363.6(SACS):c.10205A>G (p.Asp3402Gly)
NM_014363.6(SACS):c.10298C>G (p.Thr3433Arg) rs200991790
NM_014363.6(SACS):c.10305T>C (p.Ser3435=) rs35670472
NM_014363.6(SACS):c.10327A>C (p.Lys3443Gln)
NM_014363.6(SACS):c.1033C>T (p.Arg345Trp) rs776156836
NM_014363.6(SACS):c.10572A>G (p.Leu3524=) rs878854976
NM_014363.6(SACS):c.10611A>G (p.Ala3537=) rs137856939
NM_014363.6(SACS):c.1061C>G (p.Thr354Ser)
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.10708A>T (p.Ile3570Leu) rs878854977
NM_014363.6(SACS):c.10821C>A (p.Ile3607=) rs113595574
NM_014363.6(SACS):c.10847G>A (p.Trp3616Ter)
NM_014363.6(SACS):c.10896A>G (p.Ile3632Met) rs35256065
NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter) rs780247476
NM_014363.6(SACS):c.10933del (p.Phe3644_Leu3645insTer) rs1566058677
NM_014363.6(SACS):c.10939G>T (p.Glu3647Ter) rs1156566314
NM_014363.6(SACS):c.10954C>A (p.Pro3652Thr) rs201505036
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val) rs36061856
NM_014363.6(SACS):c.11032C>G (p.Pro3678Ala) rs17078601
NM_014363.6(SACS):c.11291A>C (p.Glu3764Ala)
NM_014363.6(SACS):c.11327T>C (p.Ile3776Thr)
NM_014363.6(SACS):c.11688G>A (p.Arg3896=) rs116791509
NM_014363.6(SACS):c.11703T>C (p.Asn3901=) rs146154135
NM_014363.6(SACS):c.11707C>T (p.Arg3903Ter) rs774906736
NM_014363.6(SACS):c.11717C>T (p.Ala3906Val) rs375961779
NM_014363.6(SACS):c.11738A>T (p.Asp3913Val)
NM_014363.6(SACS):c.11907_11930delinsA (p.Arg3970fs)
NM_014363.6(SACS):c.12059A>G (p.Lys4020Arg)
NM_014363.6(SACS):c.12242A>G (p.Asn4081Ser) rs1060503432
NM_014363.6(SACS):c.12597A>G (p.Pro4199=) rs112630127
NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp) rs35799469
NM_014363.6(SACS):c.12682G>C (p.Asp4228His) rs1447327391
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.12820A>G (p.Arg4274Gly) rs1566055596
NM_014363.6(SACS):c.12884C>T (p.Pro4295Leu)
NM_014363.6(SACS):c.12905C>A (p.Ser4302Tyr)
NM_014363.6(SACS):c.12908T>A (p.Leu4303Ter) rs1566055368
NM_014363.6(SACS):c.13009C>G (p.His4337Asp) rs1555249362
NM_014363.6(SACS):c.13106A>G (p.Asp4369Gly)
NM_014363.6(SACS):c.13378_13379delinsTA (p.Ala4460Tyr) rs1566054479
NM_014363.6(SACS):c.13443C>G (p.Thr4481=) rs201439638
NM_014363.6(SACS):c.13474G>A (p.Val4492Met) rs774647600
NM_014363.6(SACS):c.13574C>G (p.Thr4525Arg) rs750412600
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.137T>G (p.Val46Gly)
NM_014363.6(SACS):c.141G>A (p.Ser47=)
NM_014363.6(SACS):c.1441G>T (p.Glu481Ter)
NM_014363.6(SACS):c.1463C>T (p.Pro488Leu) rs375875022
NM_014363.6(SACS):c.1483T>A (p.Phe495Ile) rs748972179
NM_014363.6(SACS):c.1525A>G (p.Ile509Val) rs1566080067
NM_014363.6(SACS):c.1562G>C (p.Ser521Thr)
NM_014363.6(SACS):c.1707G>A (p.Trp569Ter)
NM_014363.6(SACS):c.1791A>T (p.Ser597=) rs371175405
NM_014363.6(SACS):c.1839G>A (p.Gln613=) rs35840595
NM_014363.6(SACS):c.1846G>C (p.Ala616Pro)
NM_014363.6(SACS):c.1869del (p.Arg624fs) rs1006060877
NM_014363.6(SACS):c.187A>T (p.Lys63Ter)
NM_014363.6(SACS):c.1886C>T (p.Ala629Val) rs760505057
NM_014363.6(SACS):c.1907G>A (p.Arg636Gln)
NM_014363.6(SACS):c.1940del (p.Lys647fs)
NM_014363.6(SACS):c.2023A>T (p.Asn675Tyr) rs374667929
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.2146C>T (p.His716Tyr) rs146852400
NM_014363.6(SACS):c.2234G>A (p.Arg745His) rs143677534
NM_014363.6(SACS):c.2294A>G (p.Tyr765Cys)
NM_014363.6(SACS):c.2427G>A (p.Glu809=) rs878854978
NM_014363.6(SACS):c.2492A>G (p.Glu831Gly)
NM_014363.6(SACS):c.2497G>A (p.Glu833Lys) rs143433500
NM_014363.6(SACS):c.2509C>T (p.Pro837Ser)
NM_014363.6(SACS):c.2551G>T (p.Val851Phe) rs756890722
NM_014363.6(SACS):c.2581C>T (p.His861Tyr)
NM_014363.6(SACS):c.2599T>C (p.Tyr867His) rs774682589
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.2669A>G (p.Asn890Ser) rs376902764
NM_014363.6(SACS):c.2682G>A (p.Ser894=) rs369958174
NM_014363.6(SACS):c.2702A>T (p.Asp901Val)
NM_014363.6(SACS):c.2713A>T (p.Lys905Ter)
NM_014363.6(SACS):c.2788A>G (p.Ile930Val) rs886050088
NM_014363.6(SACS):c.279G>A (p.Thr93=) rs373415912
NM_014363.6(SACS):c.2853C>A (p.His951Gln) rs200644511
NM_014363.6(SACS):c.2881C>T (p.Arg961Ter)
NM_014363.6(SACS):c.2903_2906del (p.Asp968fs) rs1259615333
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.3129A>G (p.Ser1043=) rs148878361
NM_014363.6(SACS):c.3282C>T (p.Asn1094=) rs145499245
NM_014363.6(SACS):c.3391C>T (p.Leu1131Phe) rs139805032
NM_014363.6(SACS):c.3414T>C (p.Asn1138=) rs146431793
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys) rs144267558
NM_014363.6(SACS):c.346-3T>A rs186506382
NM_014363.6(SACS):c.3840T>A (p.Thr1280=)
NM_014363.6(SACS):c.4117_4118delinsCT (p.Ala1373Leu) rs797045938
NM_014363.6(SACS):c.4149T>C (p.His1383=) rs749219225
NM_014363.6(SACS):c.4188C>T (p.His1396=) rs61754477
NM_014363.6(SACS):c.432G>T (p.Trp144Cys)
NM_014363.6(SACS):c.434C>G (p.Ser145Ter)
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630
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.4665A>C (p.Lys1555Asn)
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn) rs1160357920
NM_014363.6(SACS):c.4757A>G (p.Asn1586Ser) rs201558584
NM_014363.6(SACS):c.4900G>C (p.Glu1634Gln) rs143961484
NM_014363.6(SACS):c.517C>T (p.Gln173Ter)
NM_014363.6(SACS):c.5307T>C (p.His1769=) rs145747008
NM_014363.6(SACS):c.5356G>A (p.Asp1786Asn)
NM_014363.6(SACS):c.5368G>A (p.Ala1790Thr)
NM_014363.6(SACS):c.559G>T (p.Val187Phe)
NM_014363.6(SACS):c.5707_5708del (p.Asp1903fs)
NM_014363.6(SACS):c.5826C>T (p.Tyr1942=) rs759326217
NM_014363.6(SACS):c.5832A>G (p.Ala1944=)
NM_014363.6(SACS):c.5848G>A (p.Asp1950Asn) rs370902090
NM_014363.6(SACS):c.5858A>T (p.His1953Leu) rs1428265468
NM_014363.6(SACS):c.5906A>G (p.His1969Arg)
NM_014363.6(SACS):c.591C>T (p.Val197=) rs750923640
NM_014363.6(SACS):c.5930A>G (p.Lys1977Arg) rs774492331
NM_014363.6(SACS):c.5975G>A (p.Arg1992Lys)
NM_014363.6(SACS):c.6008A>T (p.Asp2003Val) rs537408260
NM_014363.6(SACS):c.6030G>T (p.Lys2010Asn) rs769751841
NM_014363.6(SACS):c.6059G>A (p.Gly2020Glu) rs747566710
NM_014363.6(SACS):c.605A>G (p.Asp202Gly)
NM_014363.6(SACS):c.6267G>A (p.Ser2089=) rs9550956
NM_014363.6(SACS):c.6343C>T (p.His2115Tyr) rs757161092
NM_014363.6(SACS):c.6349G>A (p.Glu2117Lys)
NM_014363.6(SACS):c.6409C>G (p.Gln2137Glu)
NM_014363.6(SACS):c.6436A>G (p.Ile2146Val) rs1415663565
NM_014363.6(SACS):c.6576C>T (p.Ile2192=) rs145327845
NM_014363.6(SACS):c.6593T>C (p.Ile2198Thr) rs754906806
NM_014363.6(SACS):c.6623del (p.Ala2208fs)
NM_014363.6(SACS):c.6634A>G (p.Thr2212Ala) rs556248979
NM_014363.6(SACS):c.6640C>T (p.Arg2214Cys) rs138379074
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile) rs146722795
NM_014363.6(SACS):c.6857A>G (p.Lys2286Arg)
NM_014363.6(SACS):c.6871G>C (p.Asp2291His)
NM_014363.6(SACS):c.7100C>T (p.Ala2367Val)
NM_014363.6(SACS):c.7149C>T (p.Arg2383=) rs17078608
NM_014363.6(SACS):c.7205_7206del (p.Leu2402fs) rs773182375
NM_014363.6(SACS):c.7273C>T (p.Arg2425Ter) rs145766983
NM_014363.6(SACS):c.7384C>T (p.Pro2462Ser) rs78239814
NM_014363.6(SACS):c.7464A>G (p.Ile2488Met)
NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr) rs111920492
NM_014363.6(SACS):c.7569G>A (p.Gly2523=) rs749462494
NM_014363.6(SACS):c.7586C>A (p.Thr2529Asn)
NM_014363.6(SACS):c.7981A>G (p.Ile2661Val) rs1269342975
NM_014363.6(SACS):c.8127A>C (p.Lys2709Asn) rs78827970
NM_014363.6(SACS):c.8141C>T (p.Ser2714Leu) rs762610527
NM_014363.6(SACS):c.818T>A (p.Phe273Tyr) rs182864646
NM_014363.6(SACS):c.8245A>G (p.Ile2749Val) rs186436335
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.8357A>G (p.Asp2786Gly) rs1566063039
NM_014363.6(SACS):c.8388_8402del (p.Asp2796_Gln2801delinsGlu)
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) rs140551762
NM_014363.6(SACS):c.83C>T (p.Ser28Phe) rs1365453773
NM_014363.6(SACS):c.8504G>A (p.Ser2835Asn)
NM_014363.6(SACS):c.8539C>G (p.Leu2847Val)
NM_014363.6(SACS):c.862_863delinsTC (p.Asn288Ser) rs1555254433
NM_014363.6(SACS):c.8693G>A (p.Arg2898His) rs201977288
NM_014363.6(SACS):c.8793del (p.Lys2931fs) rs767871841
NM_014363.6(SACS):c.8844del (p.Ile2949fs) rs281865117
NM_014363.6(SACS):c.8873A>G (p.Lys2958Arg) rs11839380
NM_014363.6(SACS):c.8948A>G (p.Asn2983Ser)
NM_014363.6(SACS):c.9008G>C (p.Gly3003Ala) rs1170753806
NM_014363.6(SACS):c.9031A>G (p.Ile3011Val) rs377657177
NM_014363.6(SACS):c.909A>G (p.Ala303=) rs41315020
NM_014363.6(SACS):c.9233del (p.Asn3078fs)
NM_014363.6(SACS):c.9292A>G (p.Ile3098Val) rs745664974
NM_014363.6(SACS):c.9399A>G (p.Lys3133=) rs762665640
NM_014363.6(SACS):c.9404T>C (p.Leu3135Ser) rs371019314
NM_014363.6(SACS):c.9550C>T (p.Arg3184Cys) rs143557803
NM_014363.6(SACS):c.9551G>A (p.Arg3184His)
NM_014363.6(SACS):c.9561_9564del (p.Leu3187_Phe3188insTer) rs1060503431
NM_014363.6(SACS):c.972C>A (p.Asp324Glu) rs546652936
NM_014363.6(SACS):c.9846A>G (p.Pro3282=) rs61753111
NM_014363.6(SACS):c.9955A>G (p.Lys3319Glu) rs1566060408

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