ClinVar Miner

List of variants reported as uncertain significance for Cerebellar ataxia

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys) rs121908235 0.00006
NM_001278064.2(GRM1):c.951-6T>A rs758215901 0.00001
GRCh37/hg19 22q11.23(chr22:23720171-25065576)
NM_000166.6(GJB1):c.386G>A (p.Gly129Glu) rs1602349280
NM_001127222.2(CACNA1A):c.4508A>G (p.Asn1503Ser) rs2144748359
NM_001378452.1(ITPR1):c.4127A>T (p.Asp1376Val) rs955458642
NM_005898.5(CAPRIN1):c.1535C>T (p.Pro512Leu)
NM_015160.3(PMPCA):c.1093C>T (p.Leu365Phe) rs2131591617
NM_015289.5(VPS39):c.442-2A>G
NM_018896.5(CACNA1G):c.1288G>A (p.Gly430Ser) rs1598151147
NM_018896.5(CACNA1G):c.3601G>A (p.Gly1201Ser) rs1450096310
NM_182961.4(SYNE1):c.*580del rs886061186
NM_182961.4(SYNE1):c.*667del rs71660056
NM_182961.4(SYNE1):c.10302A>G (p.Leu3434=) rs886061205
NM_182961.4(SYNE1):c.21523-8dup rs761577958
NM_182961.4(SYNE1):c.21980T>A (p.Leu7327His) rs756758310
NM_182961.4(SYNE1):c.25070G>A (p.Arg8357His) rs766534980
NM_182961.4(SYNE1):c.3670-14del rs111322292
NM_182961.4(SYNE1):c.7713-12_7713-11delinsTTTTTTTCT rs764324594
NM_182961.4(SYNE1):c.7713-18_7713-13dup rs756232172
NM_182961.4(SYNE1):c.7713-19_7713-13dup rs756232172

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