ClinVar Miner

List of variants in gene PPP2R2B studied for autosomal dominant cerebellar ataxia

Included ClinVar conditions (86):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_181675.4(PPP2R2B):c.707A>G (p.Asn236Ser) rs150981315 0.00021
NM_181675.4(PPP2R2B):c.119C>T (p.Ala40Val) rs1554126530
NM_181675.4(PPP2R2B):c.37_57dup (p.Ser19_Tyr20insSerPheLeuArgAspHisSer)
NM_181675.4(PPP2R2B):c.41_58del (p.Phe14_Ser19del)
NM_181675.4(PPP2R2B):c.737C>A (p.Thr246Lys)

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