ClinVar Miner

List of variants reported as likely pathogenic for cerebellar ataxia by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

Included ClinVar conditions (253):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_004056.6(CA8):c.100+1G>A rs1563390893
NM_016464.5(TMEM138):c.287A>G (p.His96Arg) rs387907132
NM_153816.6(SNX14):c.2506G>T (p.Glu836Ter)

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