ClinVar Miner

List of variants reported as pathogenic for cerebellar ataxia by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

Included ClinVar conditions (255):
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ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001329943.3(KIAA0586):c.1656G>A (p.Gln552=) rs762081862 0.00001
NC_000016.9:g.78179358_78219143delins[78185355_78199419inv]
NM_000370.3(TTPA):c.744del (p.Glu249fs) rs397515377
NM_001172509.2(SATB2):c.1924C>T (p.Gln642Ter) rs2105707111
NM_014363.6(SACS):c.262C>T (p.Arg88Ter) rs1555255676
NM_014363.6(SACS):c.6338_6341del (p.Leu2113fs) rs1555251822
NM_015215.4(CAMTA1):c.249_252del (p.Ala82_Tyr83insTer) rs1641438649
NM_016373.4(WWOX):c.35C>G (p.Thr12Arg) rs1567567249
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226

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