ClinVar Miner

List of variants reported as benign for cerebellar degeneration by Genome Diagnostics Laboratory, University Medical Center Utrecht

Included ClinVar conditions (79):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_002739.5(PRKCG):c.72C>T (p.Ala24=) rs2547362 0.89099
NM_024411.5(PDYN):c.600T>C (p.His200=) rs6045819 0.16142
NM_002739.5(PRKCG):c.285C>T (p.Asp95=) rs17854523 0.03329
NM_002739.5(PRKCG):c.207C>T (p.Cys69=) rs307955 0.03300
NM_002739.5(PRKCG):c.1404C>G (p.Leu468=) rs35079513 0.02248
NM_004977.3(KCNC3):c.1929C>T (p.Gly643=) rs111744086 0.01476
NM_004977.3(KCNC3):c.1641G>A (p.Ser547=) rs2301357 0.00867
NM_003194.5(TBP):c.216_218del (p.Gln95del) rs71815788
NM_004115.4(FGF14):c.693G>A (p.Ala231=) rs34397704
NM_004977.3(KCNC3):c.2170+14C>T rs189018316

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