ClinVar Miner

List of variants studied for cerebellar ataxia by Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego

Included ClinVar conditions (255):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter) rs199469707 0.00006
NM_018294.6(CWF19L1):c.349G>T (p.Glu117Ter) rs201230582 0.00004
NM_020680.4(SCYL1):c.526A>T (p.Lys176Ter) rs535912271 0.00003
NM_018718.3(CEP41):c.942_943del (p.Glu315fs) rs1584867379 0.00001
NM_001020658.2(PUM1):c.46G>T (p.Asp16Tyr) rs1644321851
NM_001044385.3(TMEM237):c.275-2A>G rs1574582671
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp) rs886039392
NM_018294.6(CWF19L1):c.1045T>G (p.Cys349Gly) rs1846515941
NM_018718.3(CEP41):c.423-2A>C rs781815473

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