ClinVar Miner

List of variants in gene SACS reported as uncertain significance by Athena Diagnostics Inc

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Gene type:
ClinVar version:
Total variants: 137
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HGVS dbSNP
NM_014363.6(SACS):c.10118C>T (p.Thr3373Ile) rs200591364
NM_014363.6(SACS):c.10158A>G (p.Ala3386=)
NM_014363.6(SACS):c.10181A>G (p.Asn3394Ser) rs375898103
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.10675C>G (p.Pro3559Ala) rs767704103
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.10862T>C (p.Leu3621Ser) rs1397997962
NM_014363.6(SACS):c.10954C>A (p.Pro3652Thr) rs201505036
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.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.12260A>G (p.Tyr4087Cys) rs373478772
NM_014363.6(SACS):c.12618T>C (p.Ile4206=)
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.134C>T (p.Pro45Leu) rs1033188876
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.1799A>G (p.Gln600Arg) rs1348513054
NM_014363.6(SACS):c.1846G>C (p.Ala616Pro) rs200437752
NM_014363.6(SACS):c.1913G>A (p.Cys638Tyr) rs778572943
NM_014363.6(SACS):c.2024A>G (p.Asn675Ser) rs146395198
NM_014363.6(SACS):c.2037CTC[1] (p.Ser682del)
NM_014363.6(SACS):c.2096C>T (p.Ser699Phe) rs374680967
NM_014363.6(SACS):c.2182C>G (p.Arg728Gly) rs752059006
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.2580A>G (p.Gln860=) rs41283958
NM_014363.6(SACS):c.2585C>T (p.Pro862Leu)
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.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.2926C>A (p.Arg976Ser) rs139993038
NM_014363.6(SACS):c.2997T>A (p.Ile999=)
NM_014363.6(SACS):c.3017A>G (p.His1006Arg) rs368149368
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.3506G>C (p.Gly1169Ala) rs1443000762
NM_014363.6(SACS):c.3915T>C (p.His1305=) rs767598017
NM_014363.6(SACS):c.4255A>G (p.Ile1419Val)
NM_014363.6(SACS):c.4318A>G (p.Ser1440Gly) rs1172044277
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.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.5391G>C (p.Lys1797Asn) rs144715822
NM_014363.6(SACS):c.5419G>A (p.Glu1807Lys) rs375805688
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.593A>G (p.Tyr198Cys) rs1461096954
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.6084A>T (p.Glu2028Asp) rs149018756
NM_014363.6(SACS):c.6178G>C (p.Val2060Leu) rs373226693
NM_014363.6(SACS):c.6266C>T (p.Ser2089Leu) rs370095300
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.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.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.7140T>A (p.Asn2380Lys) rs61754478
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.7406A>G (p.Asn2469Ser)
NM_014363.6(SACS):c.751G>A (p.Val251Ile)
NM_014363.6(SACS):c.7644G>C (p.Glu2548Asp)
NM_014363.6(SACS):c.7763T>A (p.Leu2588His) rs1555251328
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.8192G>A (p.Arg2731His)
NM_014363.6(SACS):c.8233G>A (p.Glu2745Lys)
NM_014363.6(SACS):c.8315G>C (p.Gly2772Ala) rs763504656
NM_014363.6(SACS):c.8330G>A (p.Arg2777Lys)
NM_014363.6(SACS):c.8356G>C (p.Asp2786His) rs753607639
NM_014363.6(SACS):c.8414C>T (p.Thr2805Ile) rs772742353
NM_014363.6(SACS):c.8539C>G (p.Leu2847Val) rs760976439
NM_014363.6(SACS):c.8836A>G (p.Asn2946Asp) rs184407783
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.9359G>T (p.Arg3120Leu) rs569955570
NM_014363.6(SACS):c.9404T>C (p.Leu3135Ser) rs371019314
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

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