ClinVar Miner

List of variants in gene SACS reported as likely benign for not provided

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Gene type:
ClinVar version:
Total variants: 121
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HGVS dbSNP gnomAD frequency
NM_014363.6(SACS):c.-501-343G>A rs61946972 0.02791
NM_014363.6(SACS):c.2080G>A (p.Ala694Thr) rs17325713 0.02528
NM_014363.6(SACS):c.11032C>G (p.Pro3678Ala) rs17078601 0.02418
NM_014363.6(SACS):c.346-47G>A rs9510706 0.01795
NM_014363.6(SACS):c.7149C>T (p.Arg2383=) rs17078608 0.01409
NM_014363.6(SACS):c.605-121G>C rs74614483 0.01248
NM_014363.6(SACS):c.20+190T>G rs114384992 0.01195
NM_014363.6(SACS):c.-501-219G>A rs115681764 0.01082
NM_014363.6(SACS):c.-219A>G rs74495070 0.01003
NM_014363.6(SACS):c.10305T>C (p.Ser3435=) rs35670472 0.00986
NM_014363.6(SACS):c.12762C>T (p.Ser4254=) rs11554397 0.00978
NM_014363.6(SACS):c.-303C>T rs116758349 0.00909
NM_014363.6(SACS):c.-278G>A rs78682319 0.00908
NM_014363.6(SACS):c.-39T>G rs17078721 0.00873
NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp) rs35799469 0.00804
NM_014363.6(SACS):c.605-319A>C rs116419735 0.00801
NM_014363.6(SACS):c.8345C>T (p.Ala2782Val) rs61742500 0.00776
NM_014363.6(SACS):c.8344G>A (p.Ala2782Thr) rs61742502 0.00775
NM_014363.6(SACS):c.458-213A>G rs116246188 0.00751
NM_014363.6(SACS):c.4118C>T (p.Ala1373Val) rs61548169 0.00705
NM_014363.6(SACS):c.8127A>C (p.Lys2709Asn) rs78827970 0.00691
NM_014363.6(SACS):c.6051G>C (p.Lys2017Asn) rs35865691 0.00562
NM_014363.6(SACS):c.10896A>G (p.Ile3632Met) rs35256065 0.00558
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.1593C>T (p.Ile531=) rs113756713 0.00513
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile) rs146722795 0.00506
NM_014363.6(SACS):c.12597A>G (p.Pro4199=) rs112630127 0.00451
NM_014363.6(SACS):c.11688G>A (p.Arg3896=) rs116791509 0.00448
NM_014363.6(SACS):c.605-64T>C rs541474163 0.00438
NM_014363.6(SACS):c.*821A>G rs145184122 0.00401
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.3129A>G (p.Ser1043=) rs148878361 0.00292
NM_014363.6(SACS):c.9846A>G (p.Pro3282=) rs61753111 0.00281
NM_014363.6(SACS):c.2721G>A (p.Leu907=) rs140118958 0.00255
NM_014363.6(SACS):c.10611A>G (p.Ala3537=) rs137856939 0.00236
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val) rs36061856 0.00198
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr) rs146451611 0.00197
NM_014363.6(SACS):c.7737G>A (p.Lys2579=) rs139279302 0.00192
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) rs140551762 0.00178
NM_014363.6(SACS):c.2988A>G (p.Leu996=) rs111846884 0.00170
NM_014363.6(SACS):c.2983G>T (p.Val995Phe) rs142967124 0.00134
NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr) rs111920492 0.00131
NM_014363.6(SACS):c.7527T>C (p.Tyr2509=) rs140034972 0.00109
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.12813T>G (p.Pro4271=) rs146376949 0.00087
NM_014363.6(SACS):c.10972C>T (p.Arg3658Trp) rs115155117 0.00078
NM_014363.6(SACS):c.2146C>T (p.His716Tyr) rs146852400 0.00075
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.260-9G>A rs376676263 0.00048
NM_014363.6(SACS):c.10443C>G (p.Leu3481=) rs144087359 0.00047
NM_014363.6(SACS):c.2497G>A (p.Glu833Lys) rs143433500 0.00043
NM_014363.6(SACS):c.3637T>C (p.Leu1213=) rs577638741 0.00043
NM_014363.6(SACS):c.7725A>T (p.Ile2575=) rs200735789 0.00032
NM_014363.6(SACS):c.10008A>G (p.Lys3336=) rs148971954 0.00031
NM_014363.6(SACS):c.2580A>G (p.Gln860=) rs41283958 0.00031
NM_014363.6(SACS):c.2929C>T (p.Leu977=) rs146296924 0.00029
NM_014363.6(SACS):c.8577C>T (p.His2859=) rs140016265 0.00024
NM_014363.6(SACS):c.6952G>A (p.Ala2318Thr) rs147949881 0.00022
NM_014363.6(SACS):c.11928T>C (p.Ser3976=) rs145680118 0.00017
NM_014363.6(SACS):c.4302A>G (p.Leu1434=) rs34559250 0.00016
NM_014363.6(SACS):c.6576C>T (p.Ile2192=) rs145327845 0.00016
NM_014363.6(SACS):c.9399A>G (p.Lys3133=) rs762665640 0.00013
NM_014363.6(SACS):c.1081A>G (p.Lys361Glu) rs377027736 0.00012
NM_014363.6(SACS):c.5841C>T (p.Pro1947=) rs145371235 0.00011
NM_014363.6(SACS):c.2040C>T (p.Ser680=) rs142115704 0.00009
NM_014363.6(SACS):c.1912T>G (p.Cys638Gly) rs200333323 0.00008
NM_014363.6(SACS):c.10047A>G (p.Ser3349=) rs138909482 0.00006
NM_014363.6(SACS):c.10709T>C (p.Ile3570Thr) rs763440838 0.00006
NM_014363.6(SACS):c.11781G>A (p.Ala3927=) rs369998705 0.00006
NM_014363.6(SACS):c.10983G>A (p.Ala3661=) rs200900703 0.00004
NM_014363.6(SACS):c.5461T>C (p.Cys1821Arg) rs376680832 0.00004
NM_014363.6(SACS):c.5832A>G (p.Ala1944=) rs374169472 0.00004
NM_014363.6(SACS):c.9090A>G (p.Leu3030=) rs754628665 0.00004
NM_014363.6(SACS):c.12282A>G (p.Lys4094=) rs1405259528 0.00002
NM_014363.6(SACS):c.6240T>C (p.Val2080=) rs550680855 0.00002
NM_014363.6(SACS):c.8958C>T (p.His2986=) rs758029668 0.00002
NM_014363.6(SACS):c.9525A>G (p.Thr3175=) rs369043814 0.00002
NM_014363.6(SACS):c.10731A>G (p.Thr3577=) rs759287298 0.00001
NM_014363.6(SACS):c.11532T>C (p.Thr3844=) rs756128473 0.00001
NM_014363.6(SACS):c.11802C>T (p.Ile3934=) rs762451306 0.00001
NM_014363.6(SACS):c.12133T>C (p.Leu4045=) rs545028704 0.00001
NM_014363.6(SACS):c.13590T>C (p.Gly4530=) rs1388411074 0.00001
NM_014363.6(SACS):c.1566T>A (p.Ser522=) rs1203606581 0.00001
NM_014363.6(SACS):c.2278T>C (p.Leu760=) rs770454726 0.00001
NM_014363.6(SACS):c.2289A>G (p.Gln763=) rs765734527 0.00001
NM_014363.6(SACS):c.2682G>A (p.Ser894=) rs369958174 0.00001
NM_014363.6(SACS):c.4899A>T (p.Val1633=) rs146419598 0.00001
NM_014363.6(SACS):c.510C>T (p.His170=) rs575556786 0.00001
NM_014363.6(SACS):c.5337G>A (p.Ser1779=) rs767529590 0.00001
NM_014363.6(SACS):c.5557C>T (p.Leu1853=) rs1353300258 0.00001
NM_014363.6(SACS):c.8133G>A (p.Ser2711=) rs143386746 0.00001
NM_014363.6(SACS):c.861C>T (p.Tyr287=) rs200877272 0.00001
NM_014363.6(SACS):c.*20del rs143617437
NM_014363.6(SACS):c.-501-78G>A rs116525558
NM_014363.6(SACS):c.1066A>C (p.Ile356Leu) rs148286091
NM_014363.6(SACS):c.11277G>T (p.Thr3759=) rs777278208
NM_014363.6(SACS):c.11967T>A (p.Val3989=) rs764921350
NM_014363.6(SACS):c.12138A>G (p.Lys4046=)
NM_014363.6(SACS):c.1443G>A (p.Glu481=) rs1020930335
NM_014363.6(SACS):c.1662C>T (p.Ser554=) rs185812845
NM_014363.6(SACS):c.2180C>G (p.Thr727Ser)
NM_014363.6(SACS):c.2186-116_2186-110dup rs4068499
NM_014363.6(SACS):c.2186-92_2186-91del rs4068499
NM_014363.6(SACS):c.2538A>G (p.Lys846=) rs1869196715
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys) rs144267558
NM_014363.6(SACS):c.346-19del rs200011804
NM_014363.6(SACS):c.3642G>T (p.Gly1214=)
NM_014363.6(SACS):c.4113T>A (p.Ile1371=) rs1395418477
NM_014363.6(SACS):c.4117_4118delinsCT (p.Ala1373Leu) rs797045938
NM_014363.6(SACS):c.458-107_458-104del rs568043080
NM_014363.6(SACS):c.579G>A (p.Gly193=)
NM_014363.6(SACS):c.6456T>C (p.Gly2152=) rs747925179
NM_014363.6(SACS):c.8022T>C (p.Phe2674=) rs34928783
NM_014363.6(SACS):c.8451G>A (p.Thr2817=) rs749291377
NM_014363.6(SACS):c.921G>A (p.Leu307=) rs1870332993
NM_014363.6(SACS):c.9939A>G (p.Pro3313=) rs1593124327

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