ClinVar Miner

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

Included ClinVar conditions (255):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_014363.6(SACS):c.7394C>T (p.Ser2465Leu) rs747676277 0.00008
NM_014363.6(SACS):c.9404T>C (p.Leu3135Ser) rs371019314 0.00006
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.12160C>T (p.Gln4054Ter) rs281865120 0.00001
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn) rs1160357920 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_014363.6(SACS):c.10497C>A (p.Tyr3499Ter) rs755186798
NM_014363.6(SACS):c.10651dup (p.Met3551fs)
NM_014363.6(SACS):c.10686_10689del (p.Phe3562fs) rs779338945
NM_014363.6(SACS):c.10913A>G (p.Asp3638Gly)
NM_014363.6(SACS):c.11012_11013del (p.Gln3671fs)
NM_014363.6(SACS):c.11265_11266del (p.Ile3755fs) rs1400601705
NM_014363.6(SACS):c.11339T>C (p.Leu3780Pro)
NM_014363.6(SACS):c.11539ATT[1] (p.Ile3848del) rs2137565671
NM_014363.6(SACS):c.11914C>T (p.Arg3972Ter) rs781491486
NM_014363.6(SACS):c.1228_1229del (p.Leu410fs) rs1057516365
NM_014363.6(SACS):c.12416T>C (p.Leu4139Ser)
NM_014363.6(SACS):c.12523_12541del (p.Val4175fs)
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.13056del (p.Phe4352fs)
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.1769_1770del (p.Val590fs) rs1383333220
NM_014363.6(SACS):c.2167_2170del (p.Glu723fs)
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter) rs752059006
NM_014363.6(SACS):c.2354dup (p.Asn785fs)
NM_014363.6(SACS):c.2850dup (p.His951fs)
NM_014363.6(SACS):c.3679delinsTA (p.His1227Ter)
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.4145dup (p.His1382fs)
NM_014363.6(SACS):c.4192T>C (p.Cys1398Arg)
NM_014363.6(SACS):c.4569G>A (p.Trp1523Ter)
NM_014363.6(SACS):c.4723C>T (p.Arg1575Trp)
NM_014363.6(SACS):c.4744G>C (p.Asp1582His)
NM_014363.6(SACS):c.4954C>T (p.Gln1652Ter)
NM_014363.6(SACS):c.5125C>T (p.Gln1709Ter) rs1057517311
NM_014363.6(SACS):c.5346dup (p.Arg1783Ter)
NM_014363.6(SACS):c.5468dup (p.Cys1823fs)
NM_014363.6(SACS):c.563G>A (p.Gly188Glu)
NM_014363.6(SACS):c.5719C>T (p.Arg1907Ter) rs1485209013
NM_014363.6(SACS):c.605A>G (p.Asp202Gly) rs777554091
NM_014363.6(SACS):c.6186dup (p.Pro2063fs) rs2137611917
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.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.7276C>T (p.Arg2426Ter) rs786204750
NM_014363.6(SACS):c.7277G>C (p.Arg2426Pro)
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.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.9625_9628del (p.Phe3209fs) rs1555250557
Single allele

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