ClinVar Miner

List of variants studied for cerebellar ataxia by Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics

Included ClinVar conditions (255):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_033225.6(CSMD1):c.8935G>A (p.Gly2979Ser) rs117633452 0.00586
NM_001278064.2(GRM1):c.2471C>G (p.Thr824Arg)
NM_020871.4(LRCH2):c.772A>G (p.Lys258Glu) rs2147404569

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