ClinVar Miner

List of variants reported as likely pathogenic for cerebellar degeneration by PROSPAX: an integrated multimodal progression chart in spastic ataxias, Center for Neurology; Hertie-Institute for Clinical Brain Research

Included ClinVar conditions (270):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 101
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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.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.1038G>A (p.Pro346=) rs771344425 0.00001
NM_014363.6(SACS):c.10907G>A (p.Arg3636Gln) rs281865119 0.00001
NM_014363.6(SACS):c.12973C>T (p.Arg4325Ter) rs762947018 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_014363.5:c.58_511del
NM_014363.6(SACS):c.10554del (p.Phe3518fs)
NM_014363.6(SACS):c.10651dup (p.Met3551fs)
NM_014363.6(SACS):c.106G>T (p.Glu36Ter)
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.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.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.12022_12031delinsAATGAAC (p.Ser4008_Phe4011delinsAsnGluLeu)
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.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.13304del (p.Pro4435fs)
NM_014363.6(SACS):c.13388dup (p.Asn4463fs)
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.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.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.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.4145A>G (p.His1382Arg) rs550057119
NM_014363.6(SACS):c.4145dup (p.His1382fs)
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.4744G>C (p.Asp1582His)
NM_014363.6(SACS):c.4760A>G (p.His1587Arg)
NM_014363.6(SACS):c.4954C>T (p.Gln1652Ter)
NM_014363.6(SACS):c.4957G>T (p.Glu1653Ter)
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.5744_5745del (p.His1915fs) rs1057517138
NM_014363.6(SACS):c.5920G>T (p.Glu1974Ter)
NM_014363.6(SACS):c.604+1G>A rs1555254734
NM_014363.6(SACS):c.6078del (p.Val2027fs)
NM_014363.6(SACS):c.6172del (p.Ser2058fs) rs1214399996
NM_014363.6(SACS):c.626del (p.Gly209fs)
NM_014363.6(SACS):c.6634_6638del (p.Thr2212fs)
NM_014363.6(SACS):c.6999dup (p.Lys2334Ter)
NM_014363.6(SACS):c.701_702del (p.Lys234fs)
NM_014363.6(SACS):c.7320del (p.Lys2440fs)
NM_014363.6(SACS):c.815G>A (p.Arg272His) rs745907077
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.9197del (p.Gly3066fs)
NM_014363.6(SACS):c.9305dup (p.Leu3102fs)
NM_014363.6(SACS):c.99del (p.Asp33fs)

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