ClinVar Miner

List of variants reported as likely pathogenic for cerebellar disorder by Undiagnosed Diseases Network, NIH

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.5015G>C (p.Arg1672Pro) rs1057519429
NM_006946.4(SPTBN2):c.1276_1278del (p.Leu426del) rs1590955348
NM_015378.4(VPS13D):c.12242T>C (p.Val4081Ala)
NM_024818.6(UBA5):c.562C>T (p.Arg188Ter) rs374052333
NM_032856.5(WDR73):c.884G>A (p.Gly295Asp) rs1596048227

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