ClinVar Miner

List of variants in gene PRKCG studied for Spinocerebellar ataxia type 14

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Total variants: 114
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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.*427T>C rs886054615 0.00334
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.*622C>G rs1032868211 0.00046
NM_002739.5(PRKCG):c.*550C>T rs778703745 0.00035
NM_002739.5(PRKCG):c.1281+9G>C rs370400523 0.00024
NM_002739.5(PRKCG):c.711G>T (p.Glu237Asp) rs116236420 0.00021
NM_002739.5(PRKCG):c.286-12C>A rs143352499 0.00017
NM_002739.5(PRKCG):c.1747G>A (p.Val583Met) rs143513754 0.00014
NM_002739.5(PRKCG):c.822-14C>T rs367639661 0.00013
NM_002739.5(PRKCG):c.*84C>A rs995740073 0.00010
NM_002739.5(PRKCG):c.234C>T (p.His78=) rs143456958 0.00010
NM_002739.5(PRKCG):c.940-3C>T rs377593245 0.00008
NM_002739.5(PRKCG):c.2075T>G (p.Val692Gly) rs78437096 0.00007
NM_002739.5(PRKCG):c.498G>T (p.Arg166=) rs148370843 0.00007
NM_002739.5(PRKCG):c.*426C>T rs1002891475 0.00006
NM_002739.5(PRKCG):c.1730C>T (p.Ser577Leu) rs551805527 0.00006
NM_002739.5(PRKCG):c.*184C>T rs764816557 0.00005
NM_002739.5(PRKCG):c.441C>T (p.Pro147=) rs764546467 0.00005
NM_002739.5(PRKCG):c.1381G>A (p.Ala461Thr) rs749266717 0.00004
NM_002739.5(PRKCG):c.1665C>T (p.Phe555=) rs556667568 0.00003
NM_002739.5(PRKCG):c.1904C>T (p.Pro635Leu) rs1360248213 0.00003
NM_002739.5(PRKCG):c.419G>A (p.Arg140Gln) rs770016586 0.00003
NM_002739.5(PRKCG):c.*481T>C rs886054616 0.00002
NM_002739.5(PRKCG):c.-233C>T rs752173466 0.00002
NM_002739.5(PRKCG):c.1382C>T (p.Ala461Val) rs751774653 0.00002
NM_002739.5(PRKCG):c.529+11G>T rs886054612 0.00002
NM_002739.5(PRKCG):c.*360G>C rs886054614 0.00001
NM_002739.5(PRKCG):c.*415G>C rs2068821858 0.00001
NM_002739.5(PRKCG):c.*48G>A rs775600229 0.00001
NM_002739.5(PRKCG):c.1282-14G>A rs1017029385 0.00001
NM_002739.5(PRKCG):c.1883C>T (p.Pro628Leu) rs1303074743 0.00001
NM_002739.5(PRKCG):c.1900C>T (p.Arg634Cys) rs980400591 0.00001
NM_002739.5(PRKCG):c.1906-10T>C rs575700585 0.00001
NM_002739.5(PRKCG):c.1960C>T (p.Leu654=) rs753906154 0.00001
NM_002739.5(PRKCG):c.2086G>A (p.Val696Ile) rs751824637 0.00001
NM_002739.5(PRKCG):c.520C>G (p.His174Asp) rs777612378 0.00001
NM_002739.5(PRKCG):c.637C>A (p.Arg213=) rs750289253 0.00001
NM_002739.5(PRKCG):c.712C>T (p.Arg238Cys) rs771732555 0.00001
NM_002739.5(PRKCG):c.*39C>T rs776490487
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.1210G>A (p.Ala404Thr) rs769292201
NM_002739.5(PRKCG):c.122G>C (p.Arg41Pro) rs386134158
NM_002739.5(PRKCG):c.1232G>C (p.Gly411Ala)
NM_002739.5(PRKCG):c.1308C>G (p.Tyr436Ter) rs955612922
NM_002739.5(PRKCG):c.1346T>G (p.Leu449Arg)
NM_002739.5(PRKCG):c.1438G>T (p.Asp480Tyr) rs387906679
NM_002739.5(PRKCG):c.154T>A (p.Cys52Ser) rs797045900
NM_002739.5(PRKCG):c.1571C>G (p.Pro524Arg)
NM_002739.5(PRKCG):c.1712C>G (p.Thr571Ser)
NM_002739.5(PRKCG):c.1764+8C>T rs756397908
NM_002739.5(PRKCG):c.187G>C (p.Gly63Arg)
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.1928T>G (p.Phe643Cys) rs386134172
NM_002739.5(PRKCG):c.1962G>C (p.Leu654=) rs868833808
NM_002739.5(PRKCG):c.197G>A (p.Cys66Tyr) rs1555806333
NM_002739.5(PRKCG):c.2091_*98del (p.Met697_Ter698delinsXaa) rs1555808841
NM_002739.5(PRKCG):c.220C>A (p.His74Asn)
NM_002739.5(PRKCG):c.220C>T (p.His74Tyr) rs2122976509
NM_002739.5(PRKCG):c.226C>T (p.Arg76Ter) rs2068614711
NM_002739.5(PRKCG):c.229T>A (p.Cys77Ser) rs386134160
NM_002739.5(PRKCG):c.230G>A (p.Cys77Tyr) rs1599938631
NM_002739.5(PRKCG):c.285C>G (p.Asp95Glu) rs17854523
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.302A>G (p.His101Arg) rs2068656783
NM_002739.5(PRKCG):c.303C>G (p.His101Gln) rs121918518
NM_002739.5(PRKCG):c.323A>G (p.Tyr108Cys) rs2122988484
NM_002739.5(PRKCG):c.341G>A (p.Cys114Tyr) rs386134162
NM_002739.5(PRKCG):c.347A>G (p.His116Arg) rs2068657131
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.358C>T (p.Leu120Phe) rs2122988567
NM_002739.5(PRKCG):c.367G>A (p.Gly123Arg) rs386134164
NM_002739.5(PRKCG):c.367G>C (p.Gly123Arg) rs386134164
NM_002739.5(PRKCG):c.368G>A (p.Gly123Glu) rs386134165
NM_002739.5(PRKCG):c.379C>A (p.Gln127Lys) rs1599943097
NM_002739.5(PRKCG):c.380A>C (p.Gln127Pro) rs121918515
NM_002739.5(PRKCG):c.380A>G (p.Gln127Arg) rs121918515
NM_002739.5(PRKCG):c.381G>T (p.Gln127His) rs973767996
NM_002739.5(PRKCG):c.383G>A (p.Gly128Asp) rs121918513
NM_002739.5(PRKCG):c.391T>C (p.Cys131Arg) rs386134166
NM_002739.5(PRKCG):c.392G>A (p.Cys131Tyr) rs386134167
NM_002739.5(PRKCG):c.394T>C (p.Ser132Pro) rs2122988688
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.457G>C (p.Asp153His)
NM_002739.5(PRKCG):c.466G>A (p.Glu156Lys) rs1304701232
NM_002739.5(PRKCG):c.475G>A (p.Gly159Arg) rs866406014
NM_002739.5(PRKCG):c.476G>A (p.Gly159Glu) rs1599943390
NM_002739.5(PRKCG):c.530_919del
NM_002739.5(PRKCG):c.686+300C>G rs2068681112
NM_002739.5(PRKCG):c.715C>T (p.Arg239Trp) rs1471641294
NM_002739.5(PRKCG):c.767T>C (p.Met256Thr) rs2068685112
NM_002739.5(PRKCG):c.76A>G (p.Arg26Gly) rs386134157

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