ClinVar Miner

List of variants reported as uncertain significance for Cerebral creatine deficiency syndrome

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ClinVar version:
Total variants: 199
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HGVS dbSNP gnomAD frequency
NM_000156.6(GAMT):c.227C>T (p.Ser76Leu) rs150338273 0.00036
NM_000156.6(GAMT):c.570+4C>T rs199967562 0.00026
NM_000156.6(GAMT):c.7G>A (p.Ala3Thr) rs574164748 0.00024
NM_000156.6(GAMT):c.22C>A (p.Pro8Thr) rs776498025 0.00014
NM_000156.6(GAMT):c.707G>C (p.Gly236Ala) rs201029006 0.00011
NM_000156.6(GAMT):c.587C>T (p.Ala196Val) rs565109128 0.00009
NM_000156.6(GAMT):c.662G>A (p.Arg221His) rs766553422 0.00009
NM_000156.6(GAMT):c.314G>A (p.Arg105Gln) rs148838075 0.00007
NM_000156.6(GAMT):c.313C>T (p.Arg105Trp) rs757909053 0.00006
NM_000156.6(GAMT):c.670G>A (p.Ala224Thr) rs141471799 0.00006
NM_000156.6(GAMT):c.511C>G (p.Leu171Val) rs770110177 0.00005
NM_000156.6(GAMT):c.311C>T (p.Pro104Leu) rs368864187 0.00004
NM_000156.6(GAMT):c.419C>T (p.Ser140Leu) rs747656257 0.00004
NM_000156.6(GAMT):c.8C>T (p.Ala3Val) rs1467893087 0.00004
NM_000156.6(GAMT):c.167C>T (p.Ala56Val) rs575350720 0.00003
NM_000156.6(GAMT):c.20C>A (p.Thr7Asn) rs761687649 0.00003
NM_000156.6(GAMT):c.211A>G (p.Met71Val) rs372027428 0.00003
NM_000156.6(GAMT):c.292C>T (p.Arg98Trp) rs765070826 0.00003
NM_000156.6(GAMT):c.42G>C (p.Glu14Asp) rs775018136 0.00003
NM_000156.6(GAMT):c.471T>G (p.Phe157Leu) rs372260609 0.00003
NM_000156.6(GAMT):c.509A>C (p.Asn170Thr) rs202199674 0.00003
NM_000156.6(GAMT):c.608G>A (p.Arg203Gln) rs376499506 0.00003
NM_000156.6(GAMT):c.622C>T (p.Arg208Cys) rs778279369 0.00003
NM_000156.6(GAMT):c.623G>A (p.Arg208His) rs767887772 0.00003
NM_000156.6(GAMT):c.650C>T (p.Pro217Leu) rs139890971 0.00003
NM_000156.6(GAMT):c.68C>T (p.Ala23Val) rs796052530 0.00003
NM_000156.6(GAMT):c.118C>T (p.Pro40Ser) rs11551914 0.00002
NM_000156.6(GAMT):c.16G>A (p.Ala6Thr) rs1176129507 0.00002
NM_000156.6(GAMT):c.187C>T (p.Arg63Trp) rs777102623 0.00002
NM_000156.6(GAMT):c.217A>G (p.Ile73Val) rs771107085 0.00002
NM_000156.6(GAMT):c.220G>A (p.Ala74Thr) rs749284008 0.00002
NM_000156.6(GAMT):c.328G>T (p.Val110Phe) rs753198836 0.00002
NM_000156.6(GAMT):c.344G>A (p.Gly115Asp) rs750625814 0.00002
NM_000156.6(GAMT):c.379G>A (p.Gly127Ser) rs570476209 0.00002
NM_000156.6(GAMT):c.415C>T (p.Leu139Phe) rs1300612017 0.00002
NM_000156.6(GAMT):c.41A>G (p.Glu14Gly) rs1223870636 0.00002
NM_000156.6(GAMT):c.472C>T (p.Arg158Cys) rs758217156 0.00002
NM_000156.6(GAMT):c.493G>A (p.Val165Ile) rs1050914 0.00002
NM_000156.6(GAMT):c.661C>T (p.Arg221Cys) rs751894166 0.00002
NM_000156.6(GAMT):c.151C>G (p.His51Asp) rs1131691409 0.00001
NM_000156.6(GAMT):c.152A>T (p.His51Leu) rs1473896815 0.00001
NM_000156.6(GAMT):c.154G>A (p.Ala52Thr) rs1010921007 0.00001
NM_000156.6(GAMT):c.179A>G (p.Lys60Arg) rs1228556317 0.00001
NM_000156.6(GAMT):c.182G>A (p.Gly61Glu) rs77168423 0.00001
NM_000156.6(GAMT):c.224C>T (p.Ala75Val) rs1441030187 0.00001
NM_000156.6(GAMT):c.226T>C (p.Ser76Pro) rs1340590108 0.00001
NM_000156.6(GAMT):c.229A>G (p.Lys77Glu) rs780909879 0.00001
NM_000156.6(GAMT):c.25A>G (p.Ile9Val) rs1555777381 0.00001
NM_000156.6(GAMT):c.26T>A (p.Ile9Asn) rs2082633745 0.00001
NM_000156.6(GAMT):c.283G>A (p.Val95Ile) rs140778208 0.00001
NM_000156.6(GAMT):c.293G>A (p.Arg98Gln) rs200052696 0.00001
NM_000156.6(GAMT):c.317A>C (p.Gln106Pro) rs145817990 0.00001
NM_000156.6(GAMT):c.324C>A (p.His108Gln) rs1289804170 0.00001
NM_000156.6(GAMT):c.327+5C>T rs1489553949 0.00001
NM_000156.6(GAMT):c.328-1G>A rs756772965 0.00001
NM_000156.6(GAMT):c.347T>G (p.Leu116Arg) rs765281181 0.00001
NM_000156.6(GAMT):c.354G>C (p.Glu118Asp) rs1180941527 0.00001
NM_000156.6(GAMT):c.367A>G (p.Thr123Ala) rs771827261 0.00001
NM_000156.6(GAMT):c.38G>C (p.Gly13Ala) rs1600160699 0.00001
NM_000156.6(GAMT):c.391+15G>T rs367567416 0.00001
NM_000156.6(GAMT):c.391+3G>A rs1339573774 0.00001
NM_000156.6(GAMT):c.410A>C (p.Tyr137Ser) rs1131691930 0.00001
NM_000156.6(GAMT):c.428C>T (p.Thr143Ile) rs746251691 0.00001
NM_000156.6(GAMT):c.464A>T (p.His155Leu) rs1308730662 0.00001
NM_000156.6(GAMT):c.470T>G (p.Phe157Cys) rs751570656 0.00001
NM_000156.6(GAMT):c.473G>A (p.Arg158His) rs750195151 0.00001
NM_000156.6(GAMT):c.553A>C (p.Ile185Leu) rs757108273 0.00001
NM_000156.6(GAMT):c.560T>C (p.Ile187Thr) rs1421013354 0.00001
NM_000156.6(GAMT):c.571-3C>G rs1367661704 0.00001
NM_000156.6(GAMT):c.583C>G (p.Pro195Ala) rs1285848023 0.00001
NM_000156.6(GAMT):c.586G>A (p.Ala196Thr) rs1355291180 0.00001
NM_000156.6(GAMT):c.601G>A (p.Gly201Ser) rs540554423 0.00001
NM_000156.6(GAMT):c.607C>T (p.Arg203Trp) rs746633494 0.00001
NM_000156.6(GAMT):c.636G>A (p.Met212Ile) rs769713716 0.00001
NM_000156.6(GAMT):c.638C>T (p.Ala213Val) rs761535571 0.00001
NM_000156.6(GAMT):c.649C>G (p.Pro217Ala) rs1192722850 0.00001
NM_000156.6(GAMT):c.64G>A (p.Ala22Thr) rs886054248 0.00001
NM_000156.6(GAMT):c.668dup (p.Tyr223Ter) rs781163821 0.00001
NM_000156.6(GAMT):c.689C>T (p.Thr230Met) rs776537906 0.00001
NM_000156.6(GAMT):c.701C>T (p.Thr234Ile) rs1401966018 0.00001
NC_000019.9:g.(?_589926)_(1401495_?)dup
NM_000156.6(GAMT):c.106A>G (p.Ile36Val) rs2082632903
NM_000156.6(GAMT):c.10C>T (p.Pro4Ser)
NM_000156.6(GAMT):c.112G>A (p.Gly38Ser)
NM_000156.6(GAMT):c.115A>C (p.Lys39Gln) rs2144641138
NM_000156.6(GAMT):c.119C>G (p.Pro40Arg)
NM_000156.6(GAMT):c.119C>T (p.Pro40Leu) rs1222736128
NM_000156.6(GAMT):c.11C>G (p.Pro4Arg) rs587780949
NM_000156.6(GAMT):c.122T>C (p.Val41Ala) rs1569008901
NM_000156.6(GAMT):c.124A>G (p.Met42Val) rs536055494
NM_000156.6(GAMT):c.127G>C (p.Glu43Gln) rs765081198
NM_000156.6(GAMT):c.130C>G (p.Arg44Gly)
NM_000156.6(GAMT):c.131G>A (p.Arg44His)
NM_000156.6(GAMT):c.131G>C (p.Arg44Pro) rs200339910
NM_000156.6(GAMT):c.148A>C (p.Met50Leu) rs104894694
NM_000156.6(GAMT):c.150G>A (p.Met50Ile) rs1569008795
NM_000156.6(GAMT):c.152A>C (p.His51Pro)
NM_000156.6(GAMT):c.154G>T (p.Ala52Ser)
NM_000156.6(GAMT):c.155C>G (p.Ala52Gly)
NM_000156.6(GAMT):c.157_158inv (p.Leu53Arg)
NM_000156.6(GAMT):c.165C>A (p.Ala55=) rs767100879
NM_000156.6(GAMT):c.166G>A (p.Ala56Thr)
NM_000156.6(GAMT):c.170C>T (p.Ala57Val) rs2082632221
NM_000156.6(GAMT):c.172TCC[3] (p.Ser59dup) rs768895098
NM_000156.6(GAMT):c.179A>C (p.Lys60Thr) rs1228556317
NM_000156.6(GAMT):c.17C>T (p.Ala6Val) rs796052529
NM_000156.6(GAMT):c.181+16C>T rs776931007
NM_000156.6(GAMT):c.183G>T (p.Gly61=) rs2082624249
NM_000156.6(GAMT):c.199G>A (p.Val67Met)
NM_000156.6(GAMT):c.200T>A (p.Val67Glu) rs2082624036
NM_000156.6(GAMT):c.218T>C (p.Ile73Thr) rs2082623820
NM_000156.6(GAMT):c.219C>G (p.Ile73Met)
NM_000156.6(GAMT):c.221C>T (p.Ala74Val)
NM_000156.6(GAMT):c.230A>G (p.Lys77Arg)
NM_000156.6(GAMT):c.232G>A (p.Val78Met) rs141358977
NM_000156.6(GAMT):c.248T>C (p.Ile83Thr) rs796052523
NM_000156.6(GAMT):c.250G>C (p.Asp84His) rs762438523
NM_000156.6(GAMT):c.261G>A (p.Trp87Ter) rs761115975
NM_000156.6(GAMT):c.261G>C (p.Trp87Cys)
NM_000156.6(GAMT):c.262ATC[1] (p.Ile89del) rs750232484
NM_000156.6(GAMT):c.268G>A (p.Glu90Lys) rs1569006974
NM_000156.6(GAMT):c.278A>T (p.Asp93Val)
NM_000156.6(GAMT):c.280G>A (p.Gly94Ser) rs774689819
NM_000156.6(GAMT):c.288C>G (p.Phe96Leu) rs1600159259
NM_000156.6(GAMT):c.291G>T (p.Gln97His) rs796052524
NM_000156.6(GAMT):c.295C>T (p.Leu99Phe) rs1085307596
NM_000156.6(GAMT):c.299G>A (p.Arg100Gln)
NM_000156.6(GAMT):c.304T>C (p.Trp102Arg)
NM_000156.6(GAMT):c.308C>T (p.Ala103Val) rs1298671907
NM_000156.6(GAMT):c.30C>G (p.Phe10Leu) rs2144641422
NM_000156.6(GAMT):c.327+4C>T rs767824933
NM_000156.6(GAMT):c.346C>A (p.Leu116Met) rs1467451589
NM_000156.6(GAMT):c.347T>A (p.Leu116Gln) rs765281181
NM_000156.6(GAMT):c.356A>G (p.Asp119Gly) rs2082620997
NM_000156.6(GAMT):c.358G>A (p.Val120Met) rs2082620964
NM_000156.6(GAMT):c.37G>T (p.Gly13Cys)
NM_000156.6(GAMT):c.385T>G (p.Phe129Val) rs2144637427
NM_000156.6(GAMT):c.389A>C (p.Asp130Ala) rs2082620621
NM_000156.6(GAMT):c.39C>T (p.Gly13=) rs1262796024
NM_000156.6(GAMT):c.418T>A (p.Ser140Thr)
NM_000156.6(GAMT):c.435C>G (p.His145Gln) rs2144636777
NM_000156.6(GAMT):c.440_441del (p.His147fs) rs1487842051
NM_000156.6(GAMT):c.441C>A (p.His147Gln) rs1555777047
NM_000156.6(GAMT):c.449A>G (p.Asn150Ser)
NM_000156.6(GAMT):c.456C>G (p.Ile152Met)
NM_000156.6(GAMT):c.459+3G>T rs756194610
NM_000156.6(GAMT):c.460-3C>T
NM_000156.6(GAMT):c.462C>G (p.Asn154Lys) rs748256259
NM_000156.6(GAMT):c.463C>G (p.His155Asp) rs1374777721
NM_000156.6(GAMT):c.463C>T (p.His155Tyr) rs1374777721
NM_000156.6(GAMT):c.466G>A (p.Ala156Thr)
NM_000156.6(GAMT):c.46T>G (p.Cys16Gly) rs2082633520
NM_000156.6(GAMT):c.479T>G (p.Leu160Arg)
NM_000156.6(GAMT):c.484C>T (p.Pro162Ser) rs1727242337
NM_000156.6(GAMT):c.491G>A (p.Gly164Asp) rs760101382
NM_000156.6(GAMT):c.491G>T (p.Gly164Val) rs760101382
NM_000156.6(GAMT):c.509A>G (p.Asn170Ser) rs202199674
NM_000156.6(GAMT):c.515C>T (p.Thr172Ile)
NM_000156.6(GAMT):c.520T>C (p.Trp174Arg) rs891042971
NM_000156.6(GAMT):c.521G>T (p.Trp174Leu) rs200444143
NM_000156.6(GAMT):c.522G>C (p.Trp174Cys)
NM_000156.6(GAMT):c.523G>T (p.Gly175Trp) rs758371494
NM_000156.6(GAMT):c.527A>G (p.Glu176Gly)
NM_000156.6(GAMT):c.530T>G (p.Leu177Arg) rs1555777015
NM_000156.6(GAMT):c.53C>T (p.Pro18Leu) rs2144641340
NM_000156.6(GAMT):c.562A>G (p.Met188Val) rs1366312192
NM_000156.6(GAMT):c.563T>A (p.Met188Lys) rs1163644565
NM_000156.6(GAMT):c.563T>C (p.Met188Thr)
NM_000156.6(GAMT):c.570+1G>A rs2144636105
NM_000156.6(GAMT):c.570+5G>A rs199678332
NM_000156.6(GAMT):c.570+5G>T rs199678332
NM_000156.6(GAMT):c.570+6C>T
NM_000156.6(GAMT):c.571-3C>A
NM_000156.6(GAMT):c.577C>G (p.Gln193Glu)
NM_000156.6(GAMT):c.584C>T (p.Pro195Leu) rs1569003317
NM_000156.6(GAMT):c.593T>C (p.Leu198Pro) rs1030954874
NM_000156.6(GAMT):c.593T>G (p.Leu198Arg)
NM_000156.6(GAMT):c.594G>A (p.Leu198=) rs1569003278
NM_000156.6(GAMT):c.595G>A (p.Glu199Lys)
NM_000156.6(GAMT):c.59G>T (p.Trp20Leu) rs80338734
NM_000156.6(GAMT):c.602G>A (p.Gly201Asp) rs2082607153
NM_000156.6(GAMT):c.609dup (p.Arg204fs) rs745740974
NM_000156.6(GAMT):c.610A>G (p.Arg204Gly)
NM_000156.6(GAMT):c.617A>G (p.Asn206Ser)
NM_000156.6(GAMT):c.622C>A (p.Arg208Ser) rs778279369
NM_000156.6(GAMT):c.623G>T (p.Arg208Leu)
NM_000156.6(GAMT):c.631G>C (p.Val211Leu) rs2144633525
NM_000156.6(GAMT):c.635T>A (p.Met212Lys)
NM_000156.6(GAMT):c.650C>A (p.Pro217Gln) rs139890971
NM_000156.6(GAMT):c.657C>A (p.Asp219Glu)
NM_000156.6(GAMT):c.669C>G (p.Tyr223Ter) rs762954251
NM_000156.6(GAMT):c.670G>C (p.Ala224Pro) rs141471799
NM_000156.6(GAMT):c.692C>T (p.Pro231Leu)
NM_000156.6(GAMT):c.697G>A (p.Val233Met) rs771709696
NM_000156.6(GAMT):c.85G>A (p.Ala29Thr) rs2082633095
NM_000156.6(GAMT):c.89C>T (p.Ala30Val)
NM_000156.6(GAMT):c.91_92insCACGG (p.Asp31fs) rs1443859067
NM_001482.3(GATM):c.1007C>T (p.Thr336Ile) rs1481334244
NM_001482.3(GATM):c.1022C>T (p.Pro341Leu) rs1889422661

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