ClinVar Miner

List of variants in gene PRKCG reported as benign for cerebellar degeneration

Included ClinVar conditions (78):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_002739.5(PRKCG):c.72C>T (p.Ala24=) rs2547362 0.89099
NM_002739.5(PRKCG):c.686+14G>T rs3745405 0.36258
NM_002739.5(PRKCG):c.567T>C (p.Asn189=) rs3745406 0.35855
NM_002739.5(PRKCG):c.*428C>G rs57483118 0.06034
NM_002739.5(PRKCG):c.*596C>T rs60891969 0.04062
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.1497T>C (p.Phe499=) rs2242244 0.03204
NM_002739.5(PRKCG):c.1404C>G (p.Leu468=) rs35079513 0.02248
NM_002739.5(PRKCG):c.*199C>T rs114091656 0.00888
NM_002739.5(PRKCG):c.1722C>T (p.Tyr574=) rs34616316 0.00781
NM_002739.5(PRKCG):c.2059A>G (p.Ser687Gly) rs73937614 0.00778
NM_002739.5(PRKCG):c.*670T>C rs186000310 0.00190
NM_002739.5(PRKCG):c.1941C>T (p.Phe647=) rs2242243 0.00188
NM_002739.5(PRKCG):c.642G>A (p.Thr214=) rs77550964 0.00099
NM_002739.5(PRKCG):c.1836C>T (p.Gly612=) rs56211557 0.00059
NM_002739.5(PRKCG):c.286-12C>A rs143352499 0.00017
NM_002739.5(PRKCG):c.498G>T (p.Arg166=) rs148370843 0.00007

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