ClinVar Miner

List of variants studied for Charlevoix-Saguenay spastic ataxia by PROSPAX: an integrated multimodal progression chart in spastic ataxias, Center for Neurology; Hertie-Institute for Clinical Brain Research

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 170
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HGVS dbSNP gnomAD frequency
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.4466A>G (p.Asn1489Ser) rs147099630 0.00521
NM_014363.6(SACS):c.13717A>C (p.Asn4573His) rs34382952 0.00326
NM_014363.6(SACS):c.10611A>G (p.Ala3537=) rs137856939 0.00236
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) rs140551762 0.00178
NM_014363.6(SACS):c.7394C>T (p.Ser2465Leu) rs747676277 0.00008
NM_014363.6(SACS):c.10954C>A (p.Pro3652Thr) rs201505036 0.00006
NM_014363.6(SACS):c.9404T>C (p.Leu3135Ser) rs371019314 0.00006
NM_014363.6(SACS):c.2439_2440del (p.Val815fs) rs775059063 0.00004
NM_014363.6(SACS):c.8315G>C (p.Gly2772Ala) rs763504656 0.00004
NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter) rs202199411 0.00003
NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter) rs281865118 0.00002
NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter) rs1057517250 0.00001
NM_014363.6(SACS):c.1038G>A (p.Pro346=) rs771344425 0.00001
NM_014363.6(SACS):c.10907G>A (p.Arg3636Gln) rs281865119 0.00001
NM_014363.6(SACS):c.11707C>T (p.Arg3903Ter) rs774906736 0.00001
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter) rs281865120 0.00001
NM_014363.6(SACS):c.12973C>T (p.Arg4325Ter) rs762947018 0.00001
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn) rs1160357920 0.00001
NM_014363.6(SACS):c.5629C>T (p.Arg1877Ter) rs761089024 0.00001
NM_014363.6(SACS):c.562G>A (p.Gly188Arg) rs780184251 0.00001
NM_014363.6(SACS):c.623G>T (p.Ser208Ile) rs911764681 0.00001
NM_014363.6(SACS):c.7205_7206del (p.Leu2402fs) rs773182375 0.00001
NM_014363.6(SACS):c.8132C>T (p.Ser2711Leu) rs1213203489 0.00001
NM_014363.6(SACS):c.814C>T (p.Arg272Cys) rs374128662 0.00001
NM_014363.6(SACS):c.8844del (p.Ile2949fs) rs281865117 0.00001
NM_014363.6(SACS):c.9305T>A (p.Leu3102Ter) rs886041949 0.00001
NM_014363.5:c.58_511del
NM_014363.6(SACS):c.10497C>A (p.Tyr3499Ter) rs755186798
NM_014363.6(SACS):c.10554del (p.Phe3518fs)
NM_014363.6(SACS):c.10651dup (p.Met3551fs)
NM_014363.6(SACS):c.10686_10689del (p.Phe3562fs) rs779338945
NM_014363.6(SACS):c.106G>T (p.Glu36Ter)
NM_014363.6(SACS):c.10913A>G (p.Asp3638Gly)
NM_014363.6(SACS):c.11012_11013del (p.Gln3671fs)
NM_014363.6(SACS):c.11185C>T (p.Gln3729Ter) rs1057516398
NM_014363.6(SACS):c.11207dup (p.Met3736fs)
NM_014363.6(SACS):c.11242del (p.Lys3747_Val3748insTer)
NM_014363.6(SACS):c.11265_11266del (p.Ile3755fs) rs1400601705
NM_014363.6(SACS):c.11274_11276delinsT (p.Thr3759fs)
NM_014363.6(SACS):c.11339T>C (p.Leu3780Pro)
NM_014363.6(SACS):c.11353_11354del (p.Arg3785fs)
NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter) rs565203731
NM_014363.6(SACS):c.11539ATT[1] (p.Ile3848del) rs2137565671
NM_014363.6(SACS):c.1162_1165del (p.Gln388fs)
NM_014363.6(SACS):c.11779dup (p.Ala3927fs)
NM_014363.6(SACS):c.1190_1191insA (p.Ser397fs)
NM_014363.6(SACS):c.11914C>T (p.Arg3972Ter) rs781491486
NM_014363.6(SACS):c.12014T>C (p.Leu4005Pro) rs2137561906
NM_014363.6(SACS):c.12022_12031delinsAATGAAC (p.Ser4008_Phe4011delinsAsnGluLeu)
NM_014363.6(SACS):c.12220G>C (p.Ala4074Pro) rs137853016
NM_014363.6(SACS):c.1228_1229del (p.Leu410fs) rs1057516365
NM_014363.6(SACS):c.12416T>C (p.Leu4139Ser)
NM_014363.6(SACS):c.12461del (p.Pro4154fs)
NM_014363.6(SACS):c.12523_12541del (p.Val4175fs)
NM_014363.6(SACS):c.12603C>A (p.Tyr4201Ter)
NM_014363.6(SACS):c.12630_12634del (p.Glu4211fs)
NM_014363.6(SACS):c.12637_12638del (p.Glu4213fs)
NM_014363.6(SACS):c.12835_12836del (p.Leu4279fs) rs1555249425
NM_014363.6(SACS):c.12923_12927del (p.Lys4308fs) rs1057517294
NM_014363.6(SACS):c.12991C>T (p.Arg4331Trp) rs1555249369
NM_014363.6(SACS):c.12992G>A (p.Arg4331Gln)
NM_014363.6(SACS):c.13056del (p.Phe4352fs)
NM_014363.6(SACS):c.13066C>T (p.Gln4356Ter)
NM_014363.6(SACS):c.13132C>T (p.Arg4378Ter) rs747868017
NM_014363.6(SACS):c.13176C>G (p.Tyr4392Ter) rs1285760809
NM_014363.6(SACS):c.13304del (p.Pro4435fs)
NM_014363.6(SACS):c.13388dup (p.Asn4463fs)
NM_014363.6(SACS):c.1358del (p.Gly453fs) rs2137722808
NM_014363.6(SACS):c.1634_1635del (p.Trp545fs)
NM_014363.6(SACS):c.1667T>C (p.Leu556Pro)
NM_014363.6(SACS):c.171+1G>A
NM_014363.6(SACS):c.1769_1770del (p.Val590fs) rs1383333220
NM_014363.6(SACS):c.1925del (p.Gly642fs) rs2137717323
NM_014363.6(SACS):c.1932dup (p.Glu645Ter)
NM_014363.6(SACS):c.2018dup (p.Asn673fs)
NM_014363.6(SACS):c.2093+1G>A
NM_014363.6(SACS):c.2167_2170del (p.Glu723fs)
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter) rs752059006
NM_014363.6(SACS):c.2185+1del
NM_014363.6(SACS):c.2224C>T (p.Arg742Ter) rs1057517285
NM_014363.6(SACS):c.2343_2344insT (p.Val782fs)
NM_014363.6(SACS):c.2354dup (p.Asn785fs)
NM_014363.6(SACS):c.238_239insA (p.Ser80fs)
NM_014363.6(SACS):c.2686_2690del (p.Leu896fs)
NM_014363.6(SACS):c.2850dup (p.His951fs)
NM_014363.6(SACS):c.2881C>T (p.Arg961Ter) rs1593133395
NM_014363.6(SACS):c.2971T>C (p.Cys991Arg)
NM_014363.6(SACS):c.3209dup (p.Thr1071fs)
NM_014363.6(SACS):c.3484G>T (p.Glu1162Ter) rs1246013998
NM_014363.6(SACS):c.3679delinsTA (p.His1227Ter)
NM_014363.6(SACS):c.3769G>T (p.Gly1257Ter)
NM_014363.6(SACS):c.3932T>A (p.Met1311Lys)
NM_014363.6(SACS):c.4060C>T (p.Gln1354Ter)
NM_014363.6(SACS):c.4076T>G (p.Met1359Arg)
NM_014363.6(SACS):c.4108C>T (p.Gln1370Ter)
NM_014363.6(SACS):c.4145A>G (p.His1382Arg) rs550057119
NM_014363.6(SACS):c.4145dup (p.His1382fs)
NM_014363.6(SACS):c.4192T>C (p.Cys1398Arg)
NM_014363.6(SACS):c.429_430del (p.Trp144fs)
NM_014363.6(SACS):c.4569G>A (p.Trp1523Ter)
NM_014363.6(SACS):c.457+1G>A
NM_014363.6(SACS):c.4718T>G (p.Met1573Arg) rs2137625077
NM_014363.6(SACS):c.4723C>T (p.Arg1575Trp)
NM_014363.6(SACS):c.4724G>C (p.Arg1575Pro) rs764992284
NM_014363.6(SACS):c.4744G>C (p.Asp1582His)
NM_014363.6(SACS):c.4756_4760del (p.Asn1586fs) rs765361868
NM_014363.6(SACS):c.4760A>G (p.His1587Arg)
NM_014363.6(SACS):c.4933C>T (p.Arg1645Ter) rs770901638
NM_014363.6(SACS):c.4954C>T (p.Gln1652Ter)
NM_014363.6(SACS):c.4957G>T (p.Glu1653Ter)
NM_014363.6(SACS):c.5125C>T (p.Gln1709Ter) rs1057517311
NM_014363.6(SACS):c.5151dup (p.Ser1718fs) rs754439135
NM_014363.6(SACS):c.523dup (p.Ile175fs)
NM_014363.6(SACS):c.5346dup (p.Arg1783Ter)
NM_014363.6(SACS):c.5468dup (p.Cys1823fs)
NM_014363.6(SACS):c.5544dup (p.Val1849fs)
NM_014363.6(SACS):c.563G>A (p.Gly188Glu)
NM_014363.6(SACS):c.5719C>T (p.Arg1907Ter) rs1485209013
NM_014363.6(SACS):c.5744_5745del (p.His1915fs) rs1057517138
NM_014363.6(SACS):c.5761T>G (p.Tyr1921Asp) rs2137616027
NM_014363.6(SACS):c.5836T>C (p.Trp1946Arg) rs137853017
NM_014363.6(SACS):c.5920G>T (p.Glu1974Ter)
NM_014363.6(SACS):c.6000_6004del (p.Arg2002fs) rs773754134
NM_014363.6(SACS):c.604+1G>A rs1555254734
NM_014363.6(SACS):c.605A>G (p.Asp202Gly) rs777554091
NM_014363.6(SACS):c.6078del (p.Val2027fs)
NM_014363.6(SACS):c.6126C>A (p.Cys2042Ter) rs761655321
NM_014363.6(SACS):c.6172del (p.Ser2058fs) rs1214399996
NM_014363.6(SACS):c.6186dup (p.Pro2063fs) rs2137611917
NM_014363.6(SACS):c.626del (p.Gly209fs)
NM_014363.6(SACS):c.6290del (p.Cys2097fs) rs1868755540
NM_014363.6(SACS):c.637G>A (p.Gly213Arg)
NM_014363.6(SACS):c.6554GTA[1] (p.Ser2186del)
NM_014363.6(SACS):c.6634_6638del (p.Thr2212fs)
NM_014363.6(SACS):c.6650C>A (p.Pro2217Gln) rs1868700605
NM_014363.6(SACS):c.6663del (p.Lys2221fs) rs1555251699
NM_014363.6(SACS):c.6999dup (p.Lys2334Ter)
NM_014363.6(SACS):c.699del (p.Asp235fs) rs1415870785
NM_014363.6(SACS):c.701_702del (p.Lys234fs)
NM_014363.6(SACS):c.7162_7163del (p.Thr2388fs) rs1555251539
NM_014363.6(SACS):c.7274G>C (p.Arg2425Pro) rs771583552
NM_014363.6(SACS):c.7276C>T (p.Arg2426Ter) rs786204750
NM_014363.6(SACS):c.7277G>C (p.Arg2426Pro)
NM_014363.6(SACS):c.7320del (p.Lys2440fs)
NM_014363.6(SACS):c.7489G>A (p.Gly2497Arg)
NM_014363.6(SACS):c.7900G>A (p.Asp2634Asn)
NM_014363.6(SACS):c.7940T>A (p.Ile2647Asn) rs934642310
NM_014363.6(SACS):c.815G>A (p.Arg272His) rs745907077
NM_014363.6(SACS):c.8227del (p.His2743fs) rs2137593965
NM_014363.6(SACS):c.8279del (p.Asn2760fs)
NM_014363.6(SACS):c.8479dup (p.Ser2827fs)
NM_014363.6(SACS):c.8584A>T (p.Lys2862Ter) rs2137590717
NM_014363.6(SACS):c.8691G>A (p.Trp2897Ter)
NM_014363.6(SACS):c.8843del (p.Pro2948fs)
NM_014363.6(SACS):c.8873A>G (p.Lys2958Arg) rs11839380
NM_014363.6(SACS):c.888del (p.Phe296fs)
NM_014363.6(SACS):c.8921_8922insTTTA (p.Leu2974fs)
NM_014363.6(SACS):c.9075del (p.Phe3027fs)
NM_014363.6(SACS):c.9086del (p.Asn3029fs)
NM_014363.6(SACS):c.914_915del (p.Thr305fs) rs2137726985
NM_014363.6(SACS):c.9197del (p.Gly3066fs)
NM_014363.6(SACS):c.9305dup (p.Leu3102fs)
NM_014363.6(SACS):c.9561_9564del (p.Leu3187_Phe3188insTer) rs1060503431
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.99del (p.Asp33fs)
Single allele

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