ClinVar Miner

List of variants in gene SACS reported by PreventionGenetics, part of Exact Sciences

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Gene type:
ClinVar version:
Total variants: 83
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HGVS dbSNP gnomAD frequency
NM_014363.6(SACS):c.10338G>A (p.Gln3446=) rs2737701 0.98600
NM_014363.6(SACS):c.9981T>C (p.Ala3327=) rs2737700 0.36123
NM_014363.6(SACS):c.-13A>G rs17078720 0.27905
NM_014363.6(SACS):c.6195T>C (p.Ile2065=) rs4143768 0.21785
NM_014363.6(SACS):c.8853T>C (p.Val2951=) rs9552929 0.21755
NM_014363.6(SACS):c.10106T>C (p.Val3369Ala) rs17078605 0.21747
NM_014363.6(SACS):c.12304T>C (p.Leu4102=) rs2737699 0.21736
NM_014363.6(SACS):c.696T>A (p.Asn232Lys) rs2031640 0.08558
NM_014363.6(SACS):c.1656A>G (p.Leu552=) rs1536365 0.08543
NM_014363.6(SACS):c.909A>G (p.Ala303=) rs41315020 0.03313
NM_014363.6(SACS):c.1839G>A (p.Gln613=) rs35840595 0.02863
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.10305T>C (p.Ser3435=) rs35670472 0.00986
NM_014363.6(SACS):c.12762C>T (p.Ser4254=) rs11554397 0.00978
NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp) rs35799469 0.00804
NM_014363.6(SACS):c.8345C>T (p.Ala2782Val) rs61742500 0.00776
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.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.5307T>C (p.His1769=) rs145747008 0.00264
NM_014363.6(SACS):c.2721G>A (p.Leu907=) rs140118958 0.00255
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile) rs61729954 0.00227
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr) rs146451611 0.00197
NM_014363.6(SACS):c.10274A>G (p.Lys3425Arg) rs147317123 0.00168
NM_014363.6(SACS):c.810T>G (p.Phe270Leu) rs116907814 0.00149
NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr) rs111920492 0.00131
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.7165G>A (p.Val2389Met) rs142869943 0.00056
NM_014363.6(SACS):c.4985C>T (p.Thr1662Met) rs139387396 0.00054
NM_014363.6(SACS):c.3828A>G (p.Pro1276=) rs369988818 0.00035
NM_014363.6(SACS):c.1562G>C (p.Ser521Thr) rs190617851 0.00032
NM_014363.6(SACS):c.7725A>T (p.Ile2575=) rs200735789 0.00032
NM_014363.6(SACS):c.2929C>T (p.Leu977=) rs146296924 0.00029
NM_014363.6(SACS):c.1884C>T (p.Pro628=) rs144468379 0.00023
NM_014363.6(SACS):c.3752T>C (p.Ile1251Thr) rs76872266 0.00016
NM_014363.6(SACS):c.4302A>G (p.Leu1434=) rs34559250 0.00016
NM_014363.6(SACS):c.1026A>T (p.Lys342Asn) rs190623423 0.00008
NM_014363.6(SACS):c.10909A>G (p.Met3637Val) rs150309559 0.00007
NM_014363.6(SACS):c.175T>A (p.Ser59Thr) rs539836931 0.00007
NM_014363.6(SACS):c.5419G>A (p.Glu1807Lys) rs375805688 0.00007
NM_014363.6(SACS):c.11049T>C (p.Asn3683=) rs773770705 0.00004
NM_014363.6(SACS):c.1791A>T (p.Ser597=) rs371175405 0.00004
NM_014363.6(SACS):c.5461T>C (p.Cys1821Arg) rs376680832 0.00004
NM_014363.6(SACS):c.6030G>T (p.Lys2010Asn) rs769751841 0.00004
NM_014363.6(SACS):c.4878C>T (p.Gly1626=) rs778664565 0.00002
NM_014363.6(SACS):c.7354T>C (p.Leu2452=) rs761258047 0.00002
NM_014363.6(SACS):c.10470T>C (p.Tyr3490=) rs755590920 0.00001
NM_014363.6(SACS):c.11802C>T (p.Ile3934=) rs762451306 0.00001
NM_014363.6(SACS):c.1579T>C (p.Ser527Pro) rs771914413 0.00001
NM_014363.6(SACS):c.2509C>T (p.Pro837Ser) rs769153924 0.00001
NM_014363.6(SACS):c.434C>G (p.Ser145Ter) rs994374354 0.00001
NM_014363.6(SACS):c.5045G>A (p.Arg1682Lys) rs1269546947 0.00001
NM_014363.6(SACS):c.510C>T (p.His170=) rs575556786 0.00001
NM_014363.6(SACS):c.7182A>G (p.Ser2394=) rs768013904 0.00001
NM_014363.6(SACS):c.10233G>A (p.Pro3411=) rs750961199
NM_014363.6(SACS):c.1023G>C (p.Leu341=)
NM_014363.6(SACS):c.10291G>C (p.Val3431Leu) rs144179865
NM_014363.6(SACS):c.1066A>C (p.Ile356Leu) rs148286091
NM_014363.6(SACS):c.11316C>T (p.Val3772=) rs768744922
NM_014363.6(SACS):c.13660T>A (p.Ser4554Thr)
NM_014363.6(SACS):c.1989G>T (p.Leu663=) rs942220473
NM_014363.6(SACS):c.2094-14C>T rs886038601
NM_014363.6(SACS):c.2106A>G (p.Pro702=)
NM_014363.6(SACS):c.2470del (p.Ser824fs)
NM_014363.6(SACS):c.2926C>A (p.Arg976Ser) rs139993038
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys) rs144267558
NM_014363.6(SACS):c.345+35T>C rs886038602
NM_014363.6(SACS):c.3769G>A (p.Gly1257Arg)
NM_014363.6(SACS):c.5035T>A (p.Cys1679Ser)
NM_014363.6(SACS):c.5836T>C (p.Trp1946Arg) rs137853017
NM_014363.6(SACS):c.6387G>A (p.Gly2129=) rs141341126
NM_014363.6(SACS):c.8873A>G (p.Lys2958Arg) rs11839380
NM_014363.6(SACS):c.9015C>T (p.Asp3005=) rs769712713
NM_014363.6(SACS):c.9403T>C (p.Leu3135=) rs867103476
NM_014363.6(SACS):c.9405A>G (p.Leu3135=) rs866488144
NM_014363.6(SACS):c.972C>A (p.Asp324Glu) rs546652936
NM_014363.6(SACS):c.9972A>T (p.Leu3324=) rs772412510

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