ClinVar Miner

List of variants in gene SACS reported by Athena Diagnostics Inc

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Gene type:
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Total variants: 121
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HGVS dbSNP
NM_014363.4(SACS):c.9508C>T (p.Arg3170Ter) rs202199411
NM_014363.5(SACS):c.10118C>T (p.Thr3373Ile) rs200591364
NM_014363.5(SACS):c.10181A>G (p.Asn3394Ser)
NM_014363.5(SACS):c.10226C>G (p.Ser3409Ter)
NM_014363.5(SACS):c.10274A>G (p.Lys3425Arg) rs147317123
NM_014363.5(SACS):c.10611A>G (p.Ala3537=) rs137856939
NM_014363.5(SACS):c.10622A>G (p.Tyr3541Cys) rs747013127
NM_014363.5(SACS):c.10675C>G (p.Pro3559Ala) rs767704103
NM_014363.5(SACS):c.10821C>A (p.Ile3607=) rs113595574
NM_014363.5(SACS):c.10862T>C (p.Leu3621Ser) rs1397997962
NM_014363.5(SACS):c.10896A>G (p.Ile3632Met) rs35256065
NM_014363.5(SACS):c.10982C>T (p.Ala3661Val) rs36061856
NM_014363.5(SACS):c.11161G>A (p.Gly3721Ser)
NM_014363.5(SACS):c.11348A>G (p.Glu3783Gly) rs1048404551
NM_014363.5(SACS):c.11380G>T (p.Val3794Phe)
NM_014363.5(SACS):c.11688G>A (p.Arg3896=) rs116791509
NM_014363.5(SACS):c.11781G>A (p.Ala3927=)
NM_014363.5(SACS):c.11901A>G (p.Gln3967=) rs572068106
NM_014363.5(SACS):c.12148T>C (p.Phe4050Leu)
NM_014363.5(SACS):c.12216T>A (p.Thr4072=) rs574182225
NM_014363.5(SACS):c.12260A>G (p.Tyr4087Cys)
NM_014363.5(SACS):c.12585A>G (p.Gly4195=) rs200305087
NM_014363.5(SACS):c.12597A>G (p.Pro4199=) rs112630127
NM_014363.5(SACS):c.12649A>G (p.Asn4217Asp) rs35799469
NM_014363.5(SACS):c.12813T>G (p.Pro4271=) rs146376949
NM_014363.5(SACS):c.13039A>G (p.Ile4347Val) rs200939906
NM_014363.5(SACS):c.13269A>T (p.Ser4423=) rs1180908312
NM_014363.5(SACS):c.134C>T (p.Pro45Leu) rs1033188876
NM_014363.5(SACS):c.13717A>C (p.Asn4573His) rs34382952
NM_014363.5(SACS):c.1373C>T (p.Thr458Ile) rs61729954
NM_014363.5(SACS):c.1463C>T (p.Pro488Leu) rs375875022
NM_014363.5(SACS):c.1519A>G (p.Thr507Ala) rs372022664
NM_014363.5(SACS):c.1662C>T (p.Ser554=)
NM_014363.5(SACS):c.1799A>G (p.Gln600Arg) rs1348513054
NM_014363.5(SACS):c.1815A>G (p.Pro605=) rs377649927
NM_014363.5(SACS):c.1846G>C (p.Ala616Pro)
NM_014363.5(SACS):c.1885G>A (p.Ala629Thr) rs149638449
NM_014363.5(SACS):c.1917A>G (p.Ala639=) rs138457742
NM_014363.5(SACS):c.2024A>G (p.Asn675Ser)
NM_014363.5(SACS):c.2146C>T (p.His716Tyr) rs146852400
NM_014363.5(SACS):c.2471C>T (p.Ser824Leu)
NM_014363.5(SACS):c.247T>C (p.Leu83=)
NM_014363.5(SACS):c.2497G>A (p.Glu833Lys) rs143433500
NM_014363.5(SACS):c.2580A>G (p.Gln860=)
NM_014363.5(SACS):c.260-9G>A rs376676263
NM_014363.5(SACS):c.2602A>G (p.Ile868Val) rs142284018
NM_014363.5(SACS):c.2681C>T (p.Ser894Leu) rs201857647
NM_014363.5(SACS):c.2776A>G (p.Ile926Val)
NM_014363.5(SACS):c.2926C>A (p.Arg976Ser) rs139993038
NM_014363.5(SACS):c.2983G>T (p.Val995Phe) rs142967124
NM_014363.5(SACS):c.3017A>G (p.His1006Arg)
NM_014363.5(SACS):c.3129A>G (p.Ser1043=) rs148878361
NM_014363.5(SACS):c.3144A>G (p.Val1048=) rs3751369
NM_014363.5(SACS):c.3242C>T (p.Pro1081Leu) rs377493083
NM_014363.5(SACS):c.3346G>T (p.Gly1116Cys) rs774044532
NM_014363.5(SACS):c.3408T>G (p.Asn1136Lys) rs756303420
NM_014363.5(SACS):c.3413A>G (p.Asn1138Ser) rs1202128043
NM_014363.5(SACS):c.4076T>C (p.Met1359Thr) rs146451611
NM_014363.5(SACS):c.4117_4118delGCinsCT (p.Ala1373Leu) rs797045938
NM_014363.5(SACS):c.4302A>G (p.Leu1434=) rs34559250
NM_014363.5(SACS):c.4612A>G (p.Ile1538Val) rs544249449
NM_014363.5(SACS):c.47G>T (p.Gly16Val) rs886050090
NM_014363.5(SACS):c.4916A>G (p.Tyr1639Cys)
NM_014363.5(SACS):c.4936C>A (p.Leu1646Met) rs200810800
NM_014363.5(SACS):c.494C>T (p.Thr165Ile)
NM_014363.5(SACS):c.4985C>T (p.Thr1662Met)
NM_014363.5(SACS):c.5151dup (p.Ser1718Ilefs) rs754439135
NM_014363.5(SACS):c.5391G>C (p.Lys1797Asn) rs144715822
NM_014363.5(SACS):c.5419G>A (p.Glu1807Lys) rs375805688
NM_014363.5(SACS):c.5583G>C (p.Trp1861Cys) rs140678034
NM_014363.5(SACS):c.5732C>T (p.Thr1911Met) rs368494148
NM_014363.5(SACS):c.5744A>G (p.His1915Arg)
NM_014363.5(SACS):c.593A>G (p.Tyr198Cys) rs1461096954
NM_014363.5(SACS):c.5946A>G (p.Gly1982=) rs746358078
NM_014363.5(SACS):c.6030G>T (p.Lys2010Asn) rs769751841
NM_014363.5(SACS):c.6051G>C (p.Lys2017Asn) rs35865691
NM_014363.5(SACS):c.6059G>A (p.Gly2020Glu) rs747566710
NM_014363.5(SACS):c.6084A>T (p.Glu2028Asp) rs149018756
NM_014363.5(SACS):c.6178G>C (p.Val2060Leu)
NM_014363.5(SACS):c.6266C>T (p.Ser2089Leu) rs370095300
NM_014363.5(SACS):c.6336A>C (p.Arg2112Ser) rs80132141
NM_014363.5(SACS):c.6406A>T (p.Thr2136Ser)
NM_014363.5(SACS):c.6456T>C (p.Gly2152=)
NM_014363.5(SACS):c.6515A>C (p.Glu2172Ala)
NM_014363.5(SACS):c.6565T>G (p.Leu2189Val) rs771923767
NM_014363.5(SACS):c.6781C>A (p.Leu2261Ile) rs146722795
NM_014363.5(SACS):c.6859A>C (p.Lys2287Gln)
NM_014363.5(SACS):c.6932A>G (p.Tyr2311Cys)
NM_014363.5(SACS):c.6952G>A (p.Ala2318Thr) rs147949881
NM_014363.5(SACS):c.6993A>T (p.Glu2331Asp)
NM_014363.5(SACS):c.7140T>A (p.Asn2380Lys) rs61754478
NM_014363.5(SACS):c.7162_7163delAC (p.Thr2388Argfs) rs1555251539
NM_014363.5(SACS):c.7171G>A (p.Val2391Met)
NM_014363.5(SACS):c.7282A>G (p.Ile2428Val)
NM_014363.5(SACS):c.7384C>T (p.Pro2462Ser) rs78239814
NM_014363.5(SACS):c.7527T>C (p.Tyr2509=) rs140034972
NM_014363.5(SACS):c.7528G>A (p.Ala2510Thr) rs111920492
NM_014363.5(SACS):c.7737G>A (p.Lys2579=) rs139279302
NM_014363.5(SACS):c.7763T>A (p.Leu2588His) rs1555251328
NM_014363.5(SACS):c.789C>T (p.Asn263=) rs771920263
NM_014363.5(SACS):c.8022T>G (p.Phe2674Leu) rs34928783
NM_014363.5(SACS):c.8080A>T (p.Asn2694Tyr)
NM_014363.5(SACS):c.810T>G (p.Phe270Leu) rs116907814
NM_014363.5(SACS):c.8127A>C (p.Lys2709Asn) rs78827970
NM_014363.5(SACS):c.8315G>C (p.Gly2772Ala) rs763504656
NM_014363.5(SACS):c.8339T>G (p.Phe2780Cys) rs111540787
NM_014363.5(SACS):c.8344_8345delGCinsAT (p.Ala2782Ile) rs386768924
NM_014363.5(SACS):c.8356G>C (p.Asp2786His) rs753607639
NM_014363.5(SACS):c.8393C>A (p.Pro2798Gln) rs140551762
NM_014363.5(SACS):c.8414C>T (p.Thr2805Ile) rs772742353
NM_014363.5(SACS):c.8539C>G (p.Leu2847Val)
NM_014363.5(SACS):c.8836A>G (p.Asn2946Asp) rs184407783
NM_014363.5(SACS):c.8971C>T (p.Arg2991Cys) rs759112797
NM_014363.5(SACS):c.8972G>A (p.Arg2991His) rs192610957
NM_014363.5(SACS):c.9173T>G (p.Leu3058Arg) rs758654165
NM_014363.5(SACS):c.9404T>C (p.Leu3135Ser) rs371019314
NM_014363.5(SACS):c.9550C>T (p.Arg3184Cys) rs143557803
NM_014363.5(SACS):c.9562T>C (p.Phe3188Leu)
NM_014363.5(SACS):c.9680A>C (p.Lys3227Thr)
NM_014363.5(SACS):c.973G>A (p.Gly325Arg) rs144303334
NM_014363.5(SACS):c.9846A>G (p.Pro3282=) rs61753111

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