ClinVar Miner

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

Included ClinVar conditions (79):
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Gene type:
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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_002739.5(PRKCG):c.2075T>G (p.Val692Gly) rs78437096 0.00007
NM_002739.5(PRKCG):c.1078G>A (p.Gly360Ser) rs386134171
NM_002739.5(PRKCG):c.107A>G (p.His36Arg) rs2122973105
NM_002739.5(PRKCG):c.1081A>G (p.Ser361Gly) rs121918517
NM_002739.5(PRKCG):c.122G>C (p.Arg41Pro) rs386134158
NM_002739.5(PRKCG):c.1308C>G (p.Tyr436Ter) rs955612922
NM_002739.5(PRKCG):c.1438G>T (p.Asp480Tyr) rs387906679
NM_002739.5(PRKCG):c.188G>T (p.Gly63Val) rs386134159
NM_002739.5(PRKCG):c.1927T>C (p.Phe643Leu) rs121918516
NM_002739.5(PRKCG):c.2091_*98del (p.Met697_Ter698delinsXaa) rs1555808841
NM_002739.5(PRKCG):c.229T>A (p.Cys77Ser) rs386134160
NM_002739.5(PRKCG):c.300_305del (p.His101_Lys102del) rs386134161
NM_002739.5(PRKCG):c.301C>T (p.His101Tyr) rs121918511
NM_002739.5(PRKCG):c.303C>G (p.His101Gln) rs121918518
NM_002739.5(PRKCG):c.341G>A (p.Cys114Tyr) rs386134162
NM_002739.5(PRKCG):c.353G>A (p.Gly118Asp) rs121918514
NM_002739.5(PRKCG):c.355T>C (p.Ser119Pro) rs121918512
NM_002739.5(PRKCG):c.356C>T (p.Ser119Phe) rs386134163
NM_002739.5(PRKCG):c.367G>A (p.Gly123Arg) rs386134164
NM_002739.5(PRKCG):c.368G>A (p.Gly123Glu) rs386134165
NM_002739.5(PRKCG):c.380A>G (p.Gln127Arg) rs121918515
NM_002739.5(PRKCG):c.383G>A (p.Gly128Asp) rs121918513
NM_002739.5(PRKCG):c.413T>A (p.Val138Glu) rs386134168
NM_002739.5(PRKCG):c.417C>A (p.His139Gln) rs386134169
NM_002739.5(PRKCG):c.449_450delinsTT (p.Cys150Phe) rs386134170
NM_002739.5(PRKCG):c.530_919del

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