ClinVar Miner

List of variants reported as likely pathogenic 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: 30
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HGVS dbSNP gnomAD frequency
NM_014363.6(SACS):c.9404T>C (p.Leu3135Ser) rs371019314 0.00006
NM_014363.6(SACS):c.623G>T (p.Ser208Ile) rs911764681 0.00001
NM_014363.6(SACS):c.10651dup (p.Met3551fs)
NM_014363.6(SACS):c.11012_11013del (p.Gln3671fs)
NM_014363.6(SACS):c.11339T>C (p.Leu3780Pro)
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.13056del (p.Phe4352fs)
NM_014363.6(SACS):c.13304del (p.Pro4435fs)
NM_014363.6(SACS):c.13388dup (p.Asn4463fs)
NM_014363.6(SACS):c.2167_2170del (p.Glu723fs)
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.4145dup (p.His1382fs)
NM_014363.6(SACS):c.4569G>A (p.Trp1523Ter)
NM_014363.6(SACS):c.4744G>C (p.Asp1582His)
NM_014363.6(SACS):c.4954C>T (p.Gln1652Ter)
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.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.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)

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