ClinVar Miner

List of variants studied for Charlevoix-Saguenay spastic ataxia by Counsyl

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 275
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HGVS dbSNP gnomAD frequency
NM_014363.6(SACS):c.171+6C>T rs3751368 0.13441
NM_014363.6(SACS):c.13717A>C (p.Asn4573His) rs34382952 0.00326
NM_014363.6(SACS):c.2186-4A>G rs371866995 0.00054
NM_014363.6(SACS):c.13027G>A (p.Glu4343Lys) rs749383532 0.00008
NM_014363.6(SACS):c.2439_2440del (p.Val815fs) rs775059063 0.00004
NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter) rs202199411 0.00003
NM_014363.6(SACS):c.1A>G (p.Met1Val) rs771943685 0.00002
NM_014363.6(SACS):c.2957T>A (p.Leu986Ter) rs766457071 0.00002
NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter) rs281865118 0.00002
NM_014363.6(SACS):c.10034T>C (p.Val3345Ala) rs767926148 0.00001
NM_014363.6(SACS):c.1004C>T (p.Ser335Leu) rs767435985 0.00001
NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter) rs1057517250 0.00001
NM_014363.6(SACS):c.10508_10510del (p.Arg3503_Leu3504delinsIle) rs1555250190 0.00001
NM_014363.6(SACS):c.10699G>A (p.Glu3567Lys) rs886050078 0.00001
NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter) rs780247476 0.00001
NM_014363.6(SACS):c.10907G>A (p.Arg3636Gln) rs281865119 0.00001
NM_014363.6(SACS):c.1189_1190del (p.Ser397fs) rs1057516625 0.00001
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter) rs281865120 0.00001
NM_014363.6(SACS):c.12661C>G (p.Leu4221Val) rs767622491 0.00001
NM_014363.6(SACS):c.12688G>A (p.Gly4230Ser) rs746194271 0.00001
NM_014363.6(SACS):c.3066del (p.Asn1025fs) rs1057516767 0.00001
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn) rs1160357920 0.00001
NM_014363.6(SACS):c.5122del (p.Ala1708fs) rs1485885260 0.00001
NM_014363.6(SACS):c.5629C>T (p.Arg1877Ter) rs761089024 0.00001
NM_014363.6(SACS):c.623G>T (p.Ser208Ile) rs911764681 0.00001
NM_014363.6(SACS):c.7273C>T (p.Arg2425Ter) rs145766983 0.00001
NM_014363.6(SACS):c.8108G>A (p.Arg2703His) rs750181262 0.00001
NM_014363.6(SACS):c.814C>T (p.Arg272Cys) rs374128662 0.00001
NM_014363.6(SACS):c.8956C>G (p.His2986Asp) rs751888795 0.00001
NM_014363.6(SACS):c.9305T>A (p.Leu3102Ter) rs886041949 0.00001
NM_014363.6(SACS):c.*20del rs143617437
NM_014363.6(SACS):c.10024_10025del (p.Ser3342fs) rs1555250395
NM_014363.6(SACS):c.10050del (p.His3351fs) rs1555250383
NM_014363.6(SACS):c.10087A>T (p.Lys3363Ter) rs1555250359
NM_014363.6(SACS):c.10090del (p.Ala3364fs) rs1057517383
NM_014363.6(SACS):c.10379_10383del (p.Lys3460fs) rs1555250255
NM_014363.6(SACS):c.10424_10426del (p.Glu3475del) rs1555250217
NM_014363.6(SACS):c.10466_10467del (p.Ser3489fs) rs786204416
NM_014363.6(SACS):c.10497C>A (p.Tyr3499Ter) rs755186798
NM_014363.6(SACS):c.10501_10505del (p.Leu3500_Lys3501insTer) rs1555250191
NM_014363.6(SACS):c.10536del (p.Ile3513fs) rs1555250183
NM_014363.6(SACS):c.10651_10656del (p.Met3551_Leu3552del) rs1555250156
NM_014363.6(SACS):c.10686_10689del (p.Phe3562fs) rs779338945
NM_014363.6(SACS):c.10755_10757del (p.Phe3585del) rs771277098
NM_014363.6(SACS):c.10804C>T (p.Gln3602Ter) rs1057517002
NM_014363.6(SACS):c.10822_10823del (p.Ser3608fs) rs1555250082
NM_014363.6(SACS):c.10854del (p.Glu3619fs) rs1057516773
NM_014363.6(SACS):c.1085del (p.Lys362fs) rs1057517242
NM_014363.6(SACS):c.10864C>T (p.Gln3622Ter) rs1057516578
NM_014363.6(SACS):c.10993_11002dup (p.Pro3668fs) rs1555250022
NM_014363.6(SACS):c.11039_11040insTA (p.Phe3682fs) rs1555250016
NM_014363.6(SACS):c.11042dup (p.Phe3682fs) rs756597098
NM_014363.6(SACS):c.11081dup (p.Cys3694fs) rs1057516856
NM_014363.6(SACS):c.11149_11150insT (p.Lys3717fs) rs1555249977
NM_014363.6(SACS):c.11179C>T (p.Gln3727Ter) rs1555249966
NM_014363.6(SACS):c.11185C>T (p.Gln3729Ter) rs1057516398
NM_014363.6(SACS):c.11247_11250del (p.Asn3750fs) rs753205260
NM_014363.6(SACS):c.11265_11266del (p.Ile3755fs) rs1400601705
NM_014363.6(SACS):c.11373dup (p.Arg3792fs) rs1555249904
NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter) rs565203731
NM_014363.6(SACS):c.1137dup (p.Glu380fs) rs1057516987
NM_014363.6(SACS):c.11428dup (p.Glu3810fs) rs1555249894
NM_014363.6(SACS):c.11506_11521del (p.His3836fs) rs1555249878
NM_014363.6(SACS):c.11509C>T (p.Gln3837Ter) rs1555249881
NM_014363.6(SACS):c.11627_11628del (p.Thr3876fs) rs1555249826
NM_014363.6(SACS):c.11713del (p.Ala3906fs) rs1555249797
NM_014363.6(SACS):c.11731del (p.Ser3911fs) rs1057517232
NM_014363.6(SACS):c.1173T>A (p.Ser391=) rs150683286
NM_014363.6(SACS):c.11772dup (p.Asp3925Ter) rs1555249789
NM_014363.6(SACS):c.11857_11859del (p.Lys3953del) rs1555249772
NM_014363.6(SACS):c.11877dup (p.Lys3960Ter) rs1555249766
NM_014363.6(SACS):c.11935G>T (p.Glu3979Ter) rs1555249745
NM_014363.6(SACS):c.12020C>T (p.Ser4007Phe) rs1314135259
NM_014363.6(SACS):c.12054del (p.Ile4018_Met4019insTer) rs1555249695
NM_014363.6(SACS):c.12150del (p.Phe4050fs) rs1555249662
NM_014363.6(SACS):c.12218_12219del (p.Phe4073fs) rs1555249648
NM_014363.6(SACS):c.12232C>T (p.Arg4078Ter) rs141315518
NM_014363.6(SACS):c.1228_1229del (p.Leu410fs) rs1057516365
NM_014363.6(SACS):c.12323C>G (p.Ser4108Ter) rs1555249633
NM_014363.6(SACS):c.12407_12411del (p.Leu4136fs) rs1555249607
NM_014363.6(SACS):c.12434_12435del (p.Ser4145fs) rs1555249599
NM_014363.6(SACS):c.12540del (p.Glu4180fs) rs1057516347
NM_014363.6(SACS):c.12622C>T (p.Gln4208Ter) rs1555249555
NM_014363.6(SACS):c.12766del (p.Asp4256fs) rs1555249479
NM_014363.6(SACS):c.1276_1277dup (p.Leu426fs) rs1057516406
NM_014363.6(SACS):c.12775_12777del (p.Pro4259del) rs1555249469
NM_014363.6(SACS):c.12779del (p.Ser4260fs) rs1555249460
NM_014363.6(SACS):c.12830CTC[1] (p.Pro4278del) rs764766520
NM_014363.6(SACS):c.12835_12836del (p.Leu4279fs) rs1555249425
NM_014363.6(SACS):c.12835_12837del (p.Leu4279del) rs1555249424
NM_014363.6(SACS):c.12851_12854del (p.Glu4284fs) rs786204628
NM_014363.6(SACS):c.12923_12927del (p.Lys4308fs) rs1057517294
NM_014363.6(SACS):c.12980del (p.Lys4327fs) rs1555249371
NM_014363.6(SACS):c.12991C>T (p.Arg4331Trp) rs1555249369
NM_014363.6(SACS):c.13120_13121del (p.Arg4374fs) rs1555249338
NM_014363.6(SACS):c.13132C>T (p.Arg4378Ter) rs747868017
NM_014363.6(SACS):c.13178_13185dup (p.Arg4396fs) rs1555249326
NM_014363.6(SACS):c.13276C>T (p.Gln4426Ter) rs1555249276
NM_014363.6(SACS):c.13283dup (p.Tyr4428Ter) rs1057517123
NM_014363.6(SACS):c.13284C>A (p.Tyr4428Ter) rs753277514
NM_014363.6(SACS):c.13349G>A (p.Trp4450Ter) rs1555249236
NM_014363.6(SACS):c.13360del (p.Ala4454fs) rs1555249223
NM_014363.6(SACS):c.13393del (p.Leu4465fs) rs1555249211
NM_014363.6(SACS):c.13405G>C (p.Ala4469Pro) rs745961541
NM_014363.6(SACS):c.13540C>T (p.Gln4514Ter) rs1555249133
NM_014363.6(SACS):c.13614C>G (p.Tyr4538Ter) rs927804920
NM_014363.6(SACS):c.13645A>G (p.Asn4549Asp) rs1178912631
NM_014363.6(SACS):c.1420C>T (p.Arg474Cys) rs746704660
NM_014363.6(SACS):c.1435_1436insTTT (p.Lys478_Trp479insPhe) rs1555254306
NM_014363.6(SACS):c.1681del (p.Ala560_Val561insTer) rs1057516543
NM_014363.6(SACS):c.2076del (p.Ser693fs) rs1057516224
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter) rs752059006
NM_014363.6(SACS):c.2186-2A>G rs1057516554
NM_014363.6(SACS):c.2224C>T (p.Arg742Ter) rs1057517285
NM_014363.6(SACS):c.2287C>T (p.Gln763Ter) rs1555252953
NM_014363.6(SACS):c.2329dup (p.Ser777fs) rs1555252944
NM_014363.6(SACS):c.2330C>A (p.Ser777Ter) rs1057517437
NM_014363.6(SACS):c.2434C>T (p.Gln812Ter) rs1555252929
NM_014363.6(SACS):c.2438_2439del (p.Thr813fs) rs1555252928
NM_014363.6(SACS):c.2451_2452insT (p.Ile818fs) rs1555252926
NM_014363.6(SACS):c.2533C>T (p.Gln845Ter) rs1555252876
NM_014363.6(SACS):c.2564T>G (p.Leu855Ter) rs142037771
NM_014363.6(SACS):c.2614_2619del (p.Leu872_Pro873del) rs771746381
NM_014363.6(SACS):c.2627_2631del (p.Val876fs) rs1555252844
NM_014363.6(SACS):c.2629_2630dup (p.Leu877fs) rs1057516829
NM_014363.6(SACS):c.2699_2700del (p.Lys900fs) rs1167474602
NM_014363.6(SACS):c.2863A>T (p.Lys955Ter) rs1555252786
NM_014363.6(SACS):c.2870del (p.Pro957fs) rs1057516624
NM_014363.6(SACS):c.2913_2914dup (p.Glu972fs) rs1057517034
NM_014363.6(SACS):c.29del (p.Pro10fs) rs1057516837
NM_014363.6(SACS):c.2T>C (p.Met1Thr) rs1417057515
NM_014363.6(SACS):c.3021_3023del (p.Glu1008del) rs1555252742
NM_014363.6(SACS):c.3195_3196del (p.Phe1065fs) rs1057516551
NM_014363.6(SACS):c.3328dup (p.Ile1110fs) rs770866403
NM_014363.6(SACS):c.3356del (p.Pro1119fs) rs1057517039
NM_014363.6(SACS):c.3369TCT[1] (p.Leu1125del) rs1555252672
NM_014363.6(SACS):c.3427C>T (p.Gln1143Ter) rs144267558
NM_014363.6(SACS):c.3457A>T (p.Lys1153Ter) rs1555252634
NM_014363.6(SACS):c.3523_3527del (p.Gly1175fs) rs1555252623
NM_014363.6(SACS):c.3556dup (p.Met1186fs) rs1555252611
NM_014363.6(SACS):c.3633del (p.Ala1212fs) rs1555252587
NM_014363.6(SACS):c.3674T>G (p.Leu1225Ter) rs959856535
NM_014363.6(SACS):c.3706_3707insACT (p.Tyr1235dup) rs1555252563
NM_014363.6(SACS):c.3831_3832dup (p.Val1278fs) rs1555252545
NM_014363.6(SACS):c.3901C>T (p.Gln1301Ter) rs1555252531
NM_014363.6(SACS):c.3978_3982del (p.Glu1326fs) rs1555252518
NM_014363.6(SACS):c.4039del (p.Leu1347fs) rs1057516222
NM_014363.6(SACS):c.4095G>A (p.Trp1365Ter) rs1057516779
NM_014363.6(SACS):c.4162_4164del (p.Ser1388del) rs755941308
NM_014363.6(SACS):c.4168del (p.Ile1391fs) rs1555252465
NM_014363.6(SACS):c.4173_4175del (p.Ile1391del) rs1555252463
NM_014363.6(SACS):c.4199_4200insAACATTAATGTTTAATG (p.Tyr1400Ter) rs1555252458
NM_014363.6(SACS):c.4232T>G (p.Leu1411Ter) rs867249938
NM_014363.6(SACS):c.4233dup (p.Leu1412fs) rs1555252448
NM_014363.6(SACS):c.4298G>A (p.Trp1433Ter) rs1057516930
NM_014363.6(SACS):c.4385dup (p.Arg1463fs) rs1555252388
NM_014363.6(SACS):c.4465_4471del (p.Asn1489fs) rs1057516294
NM_014363.6(SACS):c.4495dup (p.Met1499fs) rs1555252359
NM_014363.6(SACS):c.4565_4568del (p.Leu1522fs) rs1555252349
NM_014363.6(SACS):c.4593dup (p.Asp1532fs) rs780197970
NM_014363.6(SACS):c.468_469insG (p.Tyr157fs) rs1057516820
NM_014363.6(SACS):c.4760del (p.His1587fs) rs1057516285
NM_014363.6(SACS):c.4877_4880del (p.Gly1626fs) rs757872635
NM_014363.6(SACS):c.4894_4897del (p.Leu1631_Thr1632insTer) rs1057516580
NM_014363.6(SACS):c.5010T>G (p.Tyr1670Ter) rs1459899547
NM_014363.6(SACS):c.5065_5066del (p.Ser1689fs) rs1372213267
NM_014363.6(SACS):c.5073_5074dup (p.Ser1692fs) rs1057517305
NM_014363.6(SACS):c.5075C>A (p.Ser1692Ter) rs1555252184
NM_014363.6(SACS):c.5111_5113dup (p.Asn1704_Pro1705insHis) rs1555252172
NM_014363.6(SACS):c.5125C>T (p.Gln1709Ter) rs1057517311
NM_014363.6(SACS):c.5149_5151del (p.Lys1717del) rs754439135
NM_014363.6(SACS):c.5238dup (p.Lys1747Ter) rs1555252148
NM_014363.6(SACS):c.5281C>T (p.Gln1761Ter) rs1555252142
NM_014363.6(SACS):c.5304_5306del (p.His1769del) rs1555252136
NM_014363.6(SACS):c.5358TGA[1] (p.Asp1788del) rs775922113
NM_014363.6(SACS):c.5379del (p.Phe1793fs) rs1057517297
NM_014363.6(SACS):c.5414C>G (p.Ser1805Ter) rs1555252113
NM_014363.6(SACS):c.5469C>A (p.Cys1823Ter) rs1057517172
NM_014363.6(SACS):c.5598_5599del (p.Ile1867fs) rs1555252086
NM_014363.6(SACS):c.5618_5619del (p.Tyr1873fs) rs1188844823
NM_014363.6(SACS):c.5639C>T (p.Thr1880Ile) rs1555252070
NM_014363.6(SACS):c.5719C>T (p.Arg1907Ter) rs1485209013
NM_014363.6(SACS):c.5719del (p.Arg1907fs) rs1555252055
NM_014363.6(SACS):c.5744_5745del (p.His1915fs) rs1057517138
NM_014363.6(SACS):c.5764_5767del (p.Leu1922fs) rs759166250
NM_014363.6(SACS):c.5784dup (p.Arg1929fs) rs1057517099
NM_014363.6(SACS):c.5919del (p.Glu1974fs) rs1555251990
NM_014363.6(SACS):c.5937_5939del (p.Ser1980del) rs1555251980
NM_014363.6(SACS):c.5990_5991del (p.Ser1997fs) rs1555251963
NM_014363.6(SACS):c.5999_6001del (p.Lys2000del) rs1555251960
NM_014363.6(SACS):c.6001dup (p.Arg2001fs) rs1555251960
NM_014363.6(SACS):c.604+1G>A rs1555254734
NM_014363.6(SACS):c.605-1G>A rs1555254489
NM_014363.6(SACS):c.6052A>T (p.Lys2018Ter) rs1555251944
NM_014363.6(SACS):c.6068del (p.Asn2023fs) rs1555251935
NM_014363.6(SACS):c.6130C>T (p.Gln2044Ter) rs1408290451
NM_014363.6(SACS):c.6163del (p.Gln2055fs) rs1555251905
NM_014363.6(SACS):c.6172del (p.Ser2058fs) rs1214399996
NM_014363.6(SACS):c.6221del (p.Asp2074fs) rs1057517366
NM_014363.6(SACS):c.6231_6233del (p.Met2077del) rs1555251880
NM_014363.6(SACS):c.6282del (p.Thr2095fs) rs1555251853
NM_014363.6(SACS):c.6300_6301delinsC (p.Ser2101fs) rs1555251840
NM_014363.6(SACS):c.6320del (p.Leu2107fs) rs1057516295
NM_014363.6(SACS):c.6353_6356del (p.Gly2118fs) rs1555251818
NM_014363.6(SACS):c.6355C>T (p.Arg2119Ter) rs766711286
NM_014363.6(SACS):c.6409C>T (p.Gln2137Ter) rs201690040
NM_014363.6(SACS):c.6448_6452del (p.Gln2150fs) rs1057516635
NM_014363.6(SACS):c.6466GAT[1] (p.Asp2157del) rs1204242892
NM_014363.6(SACS):c.6592_6593insAAAAAAAAA (p.Lys2197_Ile2198insLysLysLys) rs1555251719
NM_014363.6(SACS):c.6663del (p.Lys2221fs) rs1555251699
NM_014363.6(SACS):c.6665CAG[1] (p.Ala2223del) rs1555251695
NM_014363.6(SACS):c.6757dup (p.Ile2253fs) rs1057516932
NM_014363.6(SACS):c.6800_6802del (p.Ser2267del) rs1555251650
NM_014363.6(SACS):c.6804del (p.Phe2268fs) rs1057517301
NM_014363.6(SACS):c.6856AAG[1] (p.Lys2287del) rs1555251633
NM_014363.6(SACS):c.6919G>T (p.Gly2307Ter) rs1555251615
NM_014363.6(SACS):c.7079_7081del (p.Ser2360del) rs1555251573
NM_014363.6(SACS):c.7110C>A (p.Tyr2370Ter) rs1555251553
NM_014363.6(SACS):c.7114dup (p.Tyr2372fs) rs1057517222
NM_014363.6(SACS):c.7139del (p.Asn2380fs) rs1057516689
NM_014363.6(SACS):c.7221_7224dup (p.Gln2409Ter) rs1555251514
NM_014363.6(SACS):c.7276C>T (p.Arg2426Ter) rs786204750
NM_014363.6(SACS):c.7394C>A (p.Ser2465Ter) rs747676277
NM_014363.6(SACS):c.7418_7419delinsTTT (p.Trp2473fs) rs1555251428
NM_014363.6(SACS):c.7436_7443dup (p.Lys2482delinsProLeuTer) rs1555251421
NM_014363.6(SACS):c.7448_7456del (p.Tyr2483_Ala2486delinsSer) rs1555251416
NM_014363.6(SACS):c.7494_7504del (p.Val2499fs) rs1057517451
NM_014363.6(SACS):c.7521_7524del (p.Glu2507fs) rs1057516438
NM_014363.6(SACS):c.7527T>G (p.Tyr2509Ter) rs140034972
NM_014363.6(SACS):c.7713A>T (p.Pro2571=) rs557113294
NM_014363.6(SACS):c.7788del (p.Phe2596fs) rs1057516959
NM_014363.6(SACS):c.7796ATG[1] (p.Asp2600del) rs1555251315
NM_014363.6(SACS):c.7844del (p.Asn2615fs) rs758572409
NM_014363.6(SACS):c.7861C>T (p.Gln2621Ter) rs1057517014
NM_014363.6(SACS):c.7868del (p.Gly2623fs) rs1555251301
NM_014363.6(SACS):c.7903del (p.Cys2635fs) rs1028098148
NM_014363.6(SACS):c.7915_7920del (p.Ile2639_Ser2640del) rs1555251289
NM_014363.6(SACS):c.8009del (p.Leu2670fs) rs1555251254
NM_014363.6(SACS):c.8029C>T (p.Gln2677Ter) rs1555251241
NM_014363.6(SACS):c.815G>A (p.Arg272His) rs745907077
NM_014363.6(SACS):c.8221del (p.Asn2742fs) rs1555251151
NM_014363.6(SACS):c.8305dup (p.Ile2769fs) rs1279988199
NM_014363.6(SACS):c.832C>T (p.Gln278Ter) rs1555254439
NM_014363.6(SACS):c.8377C>T (p.Gln2793Ter) rs1240368715
NM_014363.6(SACS):c.8480C>A (p.Ser2827Ter) rs1555251015
NM_014363.6(SACS):c.848GTA[1] (p.Ser284del) rs1555254436
NM_014363.6(SACS):c.8497_8500del (p.Ser2833fs) rs1555251007
NM_014363.6(SACS):c.8512_8514del (p.Ser2838del) rs1555251001
NM_014363.6(SACS):c.8542_8543del (p.Phe2848fs) rs876657721
NM_014363.6(SACS):c.8574_8577del (p.His2859fs) rs1555250991
NM_014363.6(SACS):c.8589dup (p.Pro2864fs) rs1555250987
NM_014363.6(SACS):c.8612dup (p.Leu2871fs) rs1057517212
NM_014363.6(SACS):c.8621_8624del (p.Ser2874fs) rs753012964
NM_014363.6(SACS):c.8727G>A (p.Trp2909Ter) rs1555250949
NM_014363.6(SACS):c.8733_8734del (p.Asn2911fs) rs1057517020
NM_014363.6(SACS):c.8755G>T (p.Ala2919Ser) rs886050079
NM_014363.6(SACS):c.8793del (p.Lys2931fs) rs767871841
NM_014363.6(SACS):c.8867T>A (p.Leu2956Ter) rs1057516853
NM_014363.6(SACS):c.8873del (p.Lys2958fs) rs765992922
NM_014363.6(SACS):c.8888del (p.Phe2963fs) rs1555250872
NM_014363.6(SACS):c.9088_9089dup (p.Leu3030fs) rs1057517060
NM_014363.6(SACS):c.9356GTC[1] (p.Arg3120del) rs1388341388
NM_014363.6(SACS):c.9375_9379del (p.Asn3125fs) rs1555250684
NM_014363.6(SACS):c.9377dup (p.Leu3128fs) rs1057516875
NM_014363.6(SACS):c.9390_9391del (p.His3130fs) rs1057517349
NM_014363.6(SACS):c.9447del (p.Val3150fs) rs1555250653
NM_014363.6(SACS):c.9498del (p.Phe3166fs) rs1555250642
NM_014363.6(SACS):c.9523ACA[1] (p.Thr3176del) rs1161557781
NM_014363.6(SACS):c.961C>T (p.Arg321Ter) rs1175545518
NM_014363.6(SACS):c.9625_9628del (p.Phe3209fs) rs1555250557
NM_014363.6(SACS):c.9763_9764del (p.Val3255fs) rs1555250508
NM_014363.6(SACS):c.9774AGA[1] (p.Glu3259del) rs768958169
NM_014363.6(SACS):c.9818_9831del (p.Asp3273fs) rs1057516464
NM_014363.6(SACS):c.9893_9895del (p.Gly3298del) rs1293576848
NM_014363.6(SACS):c.9898_9900del (p.Val3300del) rs762506287

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