ClinVar Miner

List of variants reported as benign for spastic ataxia

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 113
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HGVS dbSNP gnomAD frequency
NM_014363.6(SACS):c.10338G>A (p.Gln3446=) rs2737701 0.98600
NM_014231.5(VAMP1):c.130-25T>A rs2534718 0.96882
NM_177400.3(NKX6-2):c.626T>C (p.Val209Ala) rs2804003 0.96211
NM_000231.3(SGCG):c.860A>G (p.Asn287Ser) rs1800354 0.83747
NM_006796.3(AFG3L2):c.1650A>G (p.Glu550=) rs11553521 0.77624
NM_014231.5(VAMP1):c.*1588T>C rs1045452 0.70161
NM_006796.3(AFG3L2):c.1389G>A (p.Leu463=) rs11080572 0.67857
NM_006796.3(AFG3L2):c.752+6C>T rs8097342 0.67671
NM_006612.6(KIF1C):c.2748A>G (p.Pro916=) rs346828 0.66831
NM_014363.6(SACS):c.9981T>C (p.Ala3327=) rs2737700 0.36123
NM_006796.3(AFG3L2):c.*28G>C rs1129115 0.28281
NM_014363.6(SACS):c.-13A>G rs17078720 0.27905
NM_014231.5(VAMP1):c.252C>A (p.Ala84=) rs2072375 0.27430
NM_018109.4(MTPAP):c.555+19C>T rs1047988 0.25271
NM_018109.4(MTPAP):c.484C>T (p.Arg162Cys) rs1047991 0.24628
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.171+6C>T rs3751368 0.13441
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_006612.6(KIF1C):c.1019+18A>G rs72838331 0.08330
NM_006612.6(KIF1C):c.231T>C (p.Ile77=) rs17707385 0.08025
NM_006612.6(KIF1C):c.1938-4C>G rs4790725 0.07329
NM_006612.6(KIF1C):c.1937+11G>T rs346826 0.05064
NM_006612.6(KIF1C):c.1656A>G (p.Pro552=) rs57144955 0.03773
NM_006612.6(KIF1C):c.2298C>T (p.His766=) rs73345356 0.03703
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_006612.6(KIF1C):c.1293G>A (p.Thr431=) rs35919356 0.01482
NM_006612.6(KIF1C):c.2987G>A (p.Ser996Asn) rs115332491 0.01470
NM_014363.6(SACS):c.7149C>T (p.Arg2383=) rs17078608 0.01409
NM_006612.6(KIF1C):c.1166-8C>T rs114935927 0.01049
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_006612.6(KIF1C):c.1751-7T>A rs148404628 0.00709
NM_014363.6(SACS):c.4117G>C (p.Ala1373Pro) rs61326562 0.00706
NM_014363.6(SACS):c.6069C>T (p.Asn2023=) rs35369023 0.00706
NM_014363.6(SACS):c.4118C>T (p.Ala1373Val) rs61548169 0.00705
NM_014363.6(SACS):c.5502G>C (p.Leu1834=) rs34389000 0.00705
NM_014363.6(SACS):c.4188C>T (p.His1396=) rs61754477 0.00688
NM_014363.6(SACS):c.6267G>A (p.Ser2089=) rs9550956 0.00688
NM_014363.6(SACS):c.10896A>G (p.Ile3632Met) rs35256065 0.00558
NM_006612.6(KIF1C):c.2105C>T (p.Thr702Ile) rs138935423 0.00523
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630 0.00521
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_006612.6(KIF1C):c.1165+4G>A rs192489748 0.00449
NM_014363.6(SACS):c.11688G>A (p.Arg3896=) rs116791509 0.00448
NM_014363.6(SACS):c.10821C>A (p.Ile3607=) rs113595574 0.00447
NM_006612.6(KIF1C):c.1666+12G>C rs190329136 0.00411
NM_006612.6(KIF1C):c.1815G>A (p.Leu605=) rs78356534 0.00398
NM_138395.4(MARS2):c.1580T>C (p.Val527Ala) rs141544058 0.00387
NM_006612.6(KIF1C):c.2646T>C (p.Asn882=) rs77312856 0.00374
NM_006612.6(KIF1C):c.183+17G>C rs113047933 0.00357
NM_014363.6(SACS):c.6336A>C (p.Arg2112Ser) rs80132141 0.00343
NM_006612.6(KIF1C):c.2099C>T (p.Pro700Leu) rs148934699 0.00336
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_006612.6(KIF1C):c.1937+14A>C rs188650236 0.00288
NM_014363.6(SACS):c.9846A>G (p.Pro3282=) rs61753111 0.00281
NM_006612.6(KIF1C):c.153C>T (p.Thr51=) rs147583562 0.00277
NM_014363.6(SACS):c.10611A>G (p.Ala3537=) rs137856939 0.00236
NM_018109.4(MTPAP):c.157+20C>T rs191816760 0.00160
NM_006612.6(KIF1C):c.3027C>T (p.Val1009=) rs141589627 0.00121
NM_006612.6(KIF1C):c.885G>A (p.Ser295=) rs148489739 0.00117
NM_006612.6(KIF1C):c.2734C>T (p.Arg912Trp) rs202232792 0.00115
NM_006612.6(KIF1C):c.866A>C (p.Gln289Pro) rs146872023 0.00108
NM_014363.6(SACS):c.1917A>G (p.Ala639=) rs138457742 0.00084
NM_014363.6(SACS):c.2146C>T (p.His716Tyr) rs146852400 0.00075
NM_006612.6(KIF1C):c.940+17C>A rs74985014 0.00066
NM_004172.5(SLC1A3):c.1154G>A (p.Arg385His) rs115702388 0.00058
NM_006612.6(KIF1C):c.2325C>T (p.Ala775=) rs113398149 0.00053
NM_014363.6(SACS):c.3144A>G (p.Val1048=) rs3751369 0.00035
NM_006612.6(KIF1C):c.3049G>A (p.Ala1017Thr) rs185185243 0.00031
NM_173500.4(TTBK2):c.595C>T (p.Arg199Trp) rs200125366 0.00024
NM_006612.6(KIF1C):c.184-8T>C rs192384276 0.00022
NM_006612.6(KIF1C):c.1197C>T (p.Gly399=) rs142811879 0.00016
NM_182961.4(SYNE1):c.25342G>A (p.Asp8448Asn) rs139679692 0.00016
NM_006612.6(KIF1C):c.941-17A>T rs202231042 0.00011
NM_006612.6(KIF1C):c.1605C>T (p.Thr535=) rs145893640 0.00008
NM_006612.6(KIF1C):c.714G>A (p.Ser238=) rs368886383 0.00005
NM_014363.6(SACS):c.1224C>T (p.Asp408=) rs2274386 0.00004
NM_014363.6(SACS):c.5461T>C (p.Cys1821Arg) rs376680832 0.00004
NM_006612.6(KIF1C):c.1336-10A>T rs543096465 0.00002
NM_001371928.1(AHDC1):c.4664C>T (p.Ser1555Leu) rs781513175 0.00001
NM_006612.6(KIF1C):c.1165+12A>G
NM_006612.6(KIF1C):c.1179A>G (p.Glu393=)
NM_006612.6(KIF1C):c.1275G>A (p.Pro425=)
NM_006612.6(KIF1C):c.1302G>T (p.Gln434His)
NM_006612.6(KIF1C):c.1336-18C>T
NM_006612.6(KIF1C):c.15G>A (p.Ser5=)
NM_006612.6(KIF1C):c.1666+13G>C
NM_006612.6(KIF1C):c.1707T>C (p.Tyr569=)
NM_006612.6(KIF1C):c.183+20dup
NM_006612.6(KIF1C):c.270C>T (p.Asn90=) rs535190367
NM_006612.6(KIF1C):c.2726C>A (p.Pro909Gln) rs78970955
NM_006612.6(KIF1C):c.297C>T (p.Thr99=)
NM_006612.6(KIF1C):c.720+18C>A rs201947256
NM_006612.6(KIF1C):c.720+18_720+20del rs10533622
NM_006612.6(KIF1C):c.720+19C>G rs757513826
NM_006612.6(KIF1C):c.720+19_720+20del rs10533622
NM_006612.6(KIF1C):c.720+20del rs10533622
NM_006612.6(KIF1C):c.720+20dup rs10533622
NM_006612.6(KIF1C):c.768C>T (p.Asp256=)
NM_006612.6(KIF1C):c.990C>T (p.Ile330=)
NM_006796.3(AFG3L2):c.753-55T>C rs7407640
NM_014363.6(SACS):c.8022T>C (p.Phe2674=) rs34928783
NM_014363.6(SACS):c.8873A>G (p.Lys2958Arg) rs11839380

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