ClinVar Miner

List of variants in gene PC reported as uncertain significance for Pyruvate carboxylase deficiency

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 234
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HGVS dbSNP gnomAD frequency
NM_001040716.2(PC):c.616G>T (p.Val206Leu) rs147945506 0.00126
NM_001040716.2(PC):c.*89G>A rs186152567 0.00123
NM_001040716.2(PC):c.1513+13del rs755170894 0.00099
NM_001040716.2(PC):c.2550C>T (p.Cys850=) rs61749179 0.00080
NM_001040716.2(PC):c.496G>A (p.Val166Ile) rs147697454 0.00060
NM_001040716.2(PC):c.3107G>A (p.Arg1036His) rs141237842 0.00057
NM_001040716.2(PC):c.3391G>A (p.Val1131Met) rs116518022 0.00051
NM_001040716.2(PC):c.486G>A (p.Ala162=) rs142416378 0.00041
NM_001040716.2(PC):c.3198C>T (p.Ser1066=) rs144087445 0.00031
NM_001040716.2(PC):c.*15G>A rs45501894 0.00027
NM_001040716.2(PC):c.715A>G (p.Ile239Val) rs148805312 0.00024
NM_001040716.2(PC):c.*373C>T rs189863040 0.00021
NM_001040716.2(PC):c.1446C>T (p.Asp482=) rs145891535 0.00021
NM_001040716.2(PC):c.*353A>G rs557595819 0.00019
NM_001040716.2(PC):c.1266C>T (p.Tyr422=) rs141324828 0.00019
NM_001040716.2(PC):c.89G>A (p.Arg30Gln) rs199616332 0.00019
NM_001040716.2(PC):c.2804C>T (p.Ala935Val) rs139540331 0.00016
NM_001040716.2(PC):c.786G>T (p.Glu262Asp) rs200030109 0.00015
NM_001040716.2(PC):c.190G>A (p.Val64Ile) rs35698729 0.00014
NM_001040716.2(PC):c.3341C>T (p.Ala1114Val) rs148492494 0.00014
NM_001040716.2(PC):c.1771G>A (p.Ala591Thr) rs139795235 0.00011
NM_001040716.2(PC):c.2783G>A (p.Arg928Gln) rs755385132 0.00011
NM_001040716.2(PC):c.3473G>A (p.Arg1158His) rs149054698 0.00011
NM_001040716.2(PC):c.904-11C>T rs200473405 0.00011
NM_001040716.2(PC):c.*185G>A rs573667993 0.00010
NM_001040716.2(PC):c.2224-14C>T rs780315450 0.00010
NM_001040716.2(PC):c.1409A>G (p.Gln470Arg) rs940286072 0.00007
NM_001040716.2(PC):c.50G>A (p.Arg17His) rs375282341 0.00007
NM_001040716.2(PC):c.1512C>T (p.Leu504=) rs763298490 0.00006
NM_001040716.2(PC):c.1589C>T (p.Pro530Leu) rs370248734 0.00006
NM_001040716.2(PC):c.1233C>T (p.Ser411=) rs747247743 0.00005
NM_001040716.2(PC):c.1368+11G>A rs371731636 0.00005
NM_001040716.2(PC):c.1514-6C>T rs745563711 0.00005
NM_001040716.2(PC):c.751+13G>A rs374607634 0.00005
NM_001040716.2(PC):c.*188G>A rs553630251 0.00004
NM_001040716.2(PC):c.1370C>G (p.Thr457Ser) rs200676705 0.00004
NM_001040716.2(PC):c.1607C>T (p.Pro536Leu) rs751657066 0.00004
NM_001040716.2(PC):c.2899-9G>A rs372755874 0.00004
NM_001040716.2(PC):c.3137A>G (p.Glu1046Gly) rs771700107 0.00004
NM_001040716.2(PC):c.3383G>C (p.Gly1128Ala) rs138990904 0.00004
NM_001040716.2(PC):c.879C>T (p.Ser293=) rs183131461 0.00004
NM_001040716.2(PC):c.1530C>T (p.Asn510=) rs755162836 0.00003
NM_001040716.2(PC):c.2128G>A (p.Val710Met) rs749176333 0.00003
NM_001040716.2(PC):c.3064G>A (p.Asp1022Asn) rs747786536 0.00003
NM_001040716.2(PC):c.3435G>T (p.Met1145Ile) rs201796252 0.00003
NM_001040716.2(PC):c.3483T>C (p.His1161=) rs190223302 0.00003
NM_001040716.2(PC):c.841G>A (p.Ala281Thr) rs773369359 0.00003
NM_001040716.2(PC):c.*43C>T rs751861809 0.00002
NM_001040716.2(PC):c.1150G>A (p.Ala384Thr) rs1464614105 0.00002
NM_001040716.2(PC):c.1354G>A (p.Val452Ile) rs779387492 0.00002
NM_001040716.2(PC):c.1377C>T (p.Ile459=) rs201776268 0.00002
NM_001040716.2(PC):c.1514-13G>A rs773976056 0.00002
NM_001040716.2(PC):c.1664G>A (p.Arg555Gln) rs148613404 0.00002
NM_001040716.2(PC):c.2707G>A (p.Asp903Asn) rs758910766 0.00002
NM_001040716.2(PC):c.2890C>T (p.Arg964Cys) rs192822072 0.00002
NM_001040716.2(PC):c.3008C>T (p.Thr1003Met) rs145046106 0.00002
NM_001040716.2(PC):c.3034A>G (p.Met1012Val) rs1030212351 0.00002
NM_001040716.2(PC):c.3213C>T (p.Ala1071=) rs774982916 0.00002
NM_001040716.2(PC):c.3214G>A (p.Gly1072Ser) rs768048602 0.00002
NM_001040716.2(PC):c.543C>T (p.His181=) rs139717038 0.00002
NM_001040716.2(PC):c.*161C>T rs886048554 0.00001
NM_001040716.2(PC):c.1-4C>A rs1313846853 0.00001
NM_001040716.2(PC):c.1153C>T (p.Arg385Cys) rs773109008 0.00001
NM_001040716.2(PC):c.1234G>A (p.Ala412Thr) rs773645433 0.00001
NM_001040716.2(PC):c.127G>A (p.Ala43Thr) rs756621649 0.00001
NM_001040716.2(PC):c.1524G>A (p.Met508Ile) rs765499560 0.00001
NM_001040716.2(PC):c.1613C>T (p.Pro538Leu) rs151174961 0.00001
NM_001040716.2(PC):c.1673G>A (p.Arg558Gln) rs773005705 0.00001
NM_001040716.2(PC):c.1684G>C (p.Gly562Arg) rs746060650 0.00001
NM_001040716.2(PC):c.1756G>A (p.Asp586Asn) rs371922891 0.00001
NM_001040716.2(PC):c.1832C>T (p.Thr611Met) rs757071897 0.00001
NM_001040716.2(PC):c.2024G>A (p.Arg675His) rs375528540 0.00001
NM_001040716.2(PC):c.2365G>C (p.Ala789Pro) rs1945435067 0.00001
NM_001040716.2(PC):c.2740G>A (p.Val914Met) rs775626599 0.00001
NM_001040716.2(PC):c.2786C>G (p.Ala929Gly) rs565678903 0.00001
NM_001040716.2(PC):c.3148-14C>T rs773784306 0.00001
NM_001040716.2(PC):c.331G>A (p.Val111Ile) rs753573264 0.00001
NM_001040716.2(PC):c.3364G>C (p.Asp1122His) rs745961257 0.00001
NM_001040716.2(PC):c.374C>T (p.Ala125Val) rs199678394 0.00001
NM_001040716.2(PC):c.467G>A (p.Arg156Gln) rs119103241 0.00001
NM_001040716.2(PC):c.487+7A>G rs766680971 0.00001
NM_001040716.2(PC):c.64G>A (p.Ala22Thr) rs767170503 0.00001
NM_001040716.2(PC):c.679G>A (p.Ala227Thr) rs773004288 0.00001
NM_001040716.2(PC):c.784G>A (p.Glu262Lys) rs1324553572 0.00001
NM_001040716.2(PC):c.78C>A (p.Ser26=) rs1161512784 0.00001
NM_001040716.2(PC):c.806G>A (p.Arg269Gln) rs1349343839 0.00001
NM_001040716.2(PC):c.927C>T (p.Thr309=) rs373717650 0.00001
NM_001040716.2(PC):c.*101G>A rs561169212
NM_001040716.2(PC):c.*164dup rs762257488
NM_001040716.2(PC):c.*203T>C rs886048553
NM_001040716.2(PC):c.*88G>A rs1945295941
NM_001040716.2(PC):c.1-35661G>T rs1555040359
NM_001040716.2(PC):c.1023-14C>A rs111858832
NM_001040716.2(PC):c.1023-14C>G rs111858832
NM_001040716.2(PC):c.1023C>T (p.Asp341=)
NM_001040716.2(PC):c.1024G>A (p.Val342Ile)
NM_001040716.2(PC):c.1048C>G (p.His350Asp) rs866715653
NM_001040716.2(PC):c.1052T>C (p.Val351Ala) rs1261989853
NM_001040716.2(PC):c.1073C>G (p.Pro358Arg)
NM_001040716.2(PC):c.1093_1095del (p.Glu365del)
NM_001040716.2(PC):c.1103G>A (p.Arg368His)
NM_001040716.2(PC):c.110T>C (p.Ile37Thr)
NM_001040716.2(PC):c.111C>G (p.Ile37Met)
NM_001040716.2(PC):c.1177C>T (p.Arg393Cys)
NM_001040716.2(PC):c.1178G>A (p.Arg393His)
NM_001040716.2(PC):c.1181T>C (p.Ile394Thr) rs1057520687
NM_001040716.2(PC):c.1185+5_1185+8del rs748620956
NM_001040716.2(PC):c.118G>C (p.Val40Leu) rs2135943669
NM_001040716.2(PC):c.1192C>T (p.Arg398Trp)
NM_001040716.2(PC):c.1225_1227del (p.Asn409del) rs1555023879
NM_001040716.2(PC):c.1295A>G (p.His432Arg)
NM_001040716.2(PC):c.1352G>A (p.Arg451His)
NM_001040716.2(PC):c.1358G>A (p.Arg453Gln)
NM_001040716.2(PC):c.1369-8T>A
NM_001040716.2(PC):c.1486C>T (p.Arg496Trp) rs947957837
NM_001040716.2(PC):c.1487_1492del (p.Arg496_Ala497del)
NM_001040716.2(PC):c.1513+14C>T rs1945613813
NM_001040716.2(PC):c.1513+6G>A rs566545355
NM_001040716.2(PC):c.1544C>T (p.Pro515Leu)
NM_001040716.2(PC):c.1573A>G (p.Thr525Ala)
NM_001040716.2(PC):c.160C>T (p.Arg54Trp)
NM_001040716.2(PC):c.1646G>A (p.Gly549Glu) rs886048556
NM_001040716.2(PC):c.1672C>T (p.Arg558Trp)
NM_001040716.2(PC):c.1682C>T (p.Pro561Leu)
NM_001040716.2(PC):c.1741C>T (p.Arg581Cys)
NM_001040716.2(PC):c.1742G>A (p.Arg581His)
NM_001040716.2(PC):c.1747C>T (p.Arg583Cys)
NM_001040716.2(PC):c.1804T>C (p.Phe602Leu) rs2135813970
NM_001040716.2(PC):c.1825+1G>A rs1565214970
NM_001040716.2(PC):c.1825+3A>C rs1945555370
NM_001040716.2(PC):c.1843G>A (p.Ala615Thr) rs773466708
NM_001040716.2(PC):c.1843G>T (p.Ala615Ser)
NM_001040716.2(PC):c.1876C>T (p.Arg626Trp) rs1591122325
NM_001040716.2(PC):c.1877G>A (p.Arg626Gln) rs780759271
NM_001040716.2(PC):c.1891C>T (p.Arg631Trp)
NM_001040716.2(PC):c.1937C>G (p.Ala646Gly) rs1565213970
NM_001040716.2(PC):c.1940A>G (p.Asn647Ser)
NM_001040716.2(PC):c.196A>G (p.Ile66Val) rs1409511654
NM_001040716.2(PC):c.1972G>A (p.Val658Met)
NM_001040716.2(PC):c.2000A>G (p.Lys667Arg)
NM_001040716.2(PC):c.2019C>A (p.Val673=) rs1591119887
NM_001040716.2(PC):c.2026G>A (p.Val676Met)
NM_001040716.2(PC):c.203C>T (p.Ser68Phe)
NM_001040716.2(PC):c.2142C>G (p.Ser714Arg) rs1945464815
NM_001040716.2(PC):c.2143C>T (p.Arg715Cys) rs1945464671
NM_001040716.2(PC):c.215C>T (p.Thr72Met)
NM_001040716.2(PC):c.2164T>C (p.Tyr722His)
NM_001040716.2(PC):c.2170A>T (p.Met724Leu)
NM_001040716.2(PC):c.2192T>C (p.Val731Ala)
NM_001040716.2(PC):c.2209A>G (p.Ile737Val)
NM_001040716.2(PC):c.2223+4C>A
NM_001040716.2(PC):c.2224-31TC[8] rs139065746
NM_001040716.2(PC):c.2227A>G (p.Met743Val) rs1591118129
NM_001040716.2(PC):c.2281G>A (p.Asp761Asn) rs1945442151
NM_001040716.2(PC):c.2285G>A (p.Arg762His)
NM_001040716.2(PC):c.2285G>C (p.Arg762Pro)
NM_001040716.2(PC):c.2292C>G (p.Pro764=) rs757918962
NM_001040716.2(PC):c.229C>T (p.Arg77Trp) rs928225163
NM_001040716.2(PC):c.2320G>A (p.Asp774Asn) rs1453225876
NM_001040716.2(PC):c.2333C>T (p.Ala778Val) rs1272540070
NM_001040716.2(PC):c.2338G>T (p.Val780Leu) rs572440768
NM_001040716.2(PC):c.2342C>T (p.Ala781Val) rs2135799932
NM_001040716.2(PC):c.2380G>C (p.Val794Leu)
NM_001040716.2(PC):c.2423C>A (p.Pro808His) rs1591116883
NM_001040716.2(PC):c.2447G>A (p.Cys816Tyr) rs1235315835
NM_001040716.2(PC):c.2482A>G (p.Met828Val)
NM_001040716.2(PC):c.2492T>C (p.Val831Ala)
NM_001040716.2(PC):c.2494T>A (p.Phe832Ile) rs1945409904
NM_001040716.2(PC):c.2511_2531dup (p.Leu844_Tyr845insTrpGluGlyAlaArgGlyLeu)
NM_001040716.2(PC):c.2544C>G (p.Phe848Leu) rs1270012365
NM_001040716.2(PC):c.2567C>G (p.Ser856Cys)
NM_001040716.2(PC):c.256A>G (p.Ile86Val) rs1946744013
NM_001040716.2(PC):c.259G>A (p.Gly87Ser)
NM_001040716.2(PC):c.259G>C (p.Gly87Arg) rs770055702
NM_001040716.2(PC):c.2605G>A (p.Gly869Ser)
NM_001040716.2(PC):c.2605_2610dup (p.Gly869_Gln870dup) rs1555015012
NM_001040716.2(PC):c.2606G>A (p.Gly869Asp) rs1555015018
NM_001040716.2(PC):c.2607C>T (p.Gly869=)
NM_001040716.2(PC):c.2623C>T (p.His875Tyr)
NM_001040716.2(PC):c.2638A>G (p.Ser880Gly)
NM_001040716.2(PC):c.2667G>C (p.Glu889Asp) rs1006994126
NM_001040716.2(PC):c.2705G>A (p.Gly902Asp) rs886048555
NM_001040716.2(PC):c.2711TCA[1] (p.Ile905del) rs1555014903
NM_001040716.2(PC):c.2719-5_2719-3del rs566558597
NM_001040716.2(PC):c.2723C>T (p.Thr908Met) rs796052032
NM_001040716.2(PC):c.2755C>A (p.Gln919Lys)
NM_001040716.2(PC):c.2782C>T (p.Arg928Trp)
NM_001040716.2(PC):c.2852A>G (p.Tyr951Cys) rs2135791974
NM_001040716.2(PC):c.2902C>G (p.Leu968Val)
NM_001040716.2(PC):c.2974_2976del (p.Lys992del) rs751225998
NM_001040716.2(PC):c.2976G>C (p.Lys992Asn) rs368895283
NM_001040716.2(PC):c.2989C>T (p.Arg997Trp)
NM_001040716.2(PC):c.2990G>A (p.Arg997Gln)
NM_001040716.2(PC):c.3004G>A (p.Val1002Met) rs1289376036
NM_001040716.2(PC):c.311A>T (p.Lys104Met)
NM_001040716.2(PC):c.3127A>G (p.Lys1043Glu) rs1470869408
NM_001040716.2(PC):c.316G>T (p.Ala106Ser) rs868221703
NM_001040716.2(PC):c.3182A>G (p.Lys1061Arg)
NM_001040716.2(PC):c.3199G>A (p.Asp1067Asn)
NM_001040716.2(PC):c.3228CTT[1] (p.Phe1078del) rs1555014068
NM_001040716.2(PC):c.3249G>T (p.Gln1083His)
NM_001040716.2(PC):c.3288+4T>C
NM_001040716.2(PC):c.3288+5T>C rs1945323792
NM_001040716.2(PC):c.3344C>T (p.Pro1115Leu) rs2135783978
NM_001040716.2(PC):c.3380C>T (p.Ala1127Val) rs200217380
NM_001040716.2(PC):c.3399G>A (p.Lys1133=) rs776825183
NM_001040716.2(PC):c.3442G>T (p.Val1148Leu) rs1298569042
NM_001040716.2(PC):c.3496A>G (p.Met1166Val) rs1945302855
NM_001040716.2(PC):c.3514G>T (p.Asp1172Tyr)
NM_001040716.2(PC):c.3526G>A (p.Glu1176Lys)
NM_001040716.2(PC):c.3531C>T (p.Ile1177=) rs144982348
NM_001040716.2(PC):c.410G>A (p.Arg137Gln)
NM_001040716.2(PC):c.410G>T (p.Arg137Leu) rs772619045
NM_001040716.2(PC):c.439C>G (p.Arg147Gly) rs529087425
NM_001040716.2(PC):c.439C>T (p.Arg147Cys)
NM_001040716.2(PC):c.446T>C (p.Met149Thr)
NM_001040716.2(PC):c.485C>T (p.Ala162Val) rs752714051
NM_001040716.2(PC):c.488-6C>A
NM_001040716.2(PC):c.551C>G (p.Ser184Cys)
NM_001040716.2(PC):c.562G>A (p.Gly188Ser)
NM_001040716.2(PC):c.563G>T (p.Gly188Val) rs1946713663
NM_001040716.2(PC):c.584C>T (p.Ala195Val) rs1436643226
NM_001040716.2(PC):c.610A>C (p.Met204Leu)
NM_001040716.2(PC):c.667G>C (p.Glu223Gln)
NM_001040716.2(PC):c.751+4A>G rs2135937467
NM_001040716.2(PC):c.75C>T (p.Ala25=) rs886048557
NM_001040716.2(PC):c.77C>T (p.Ser26Phe) rs2135943988
NM_001040716.2(PC):c.788G>A (p.Arg263Gln) rs769177104
NM_001040716.2(PC):c.796T>G (p.Ser266Ala) rs113994142
NM_001040716.2(PC):c.820G>A (p.Val274Met)
NM_001040716.2(PC):c.838G>A (p.Ala280Thr) rs752585997
NM_001040716.2(PC):c.863G>A (p.Arg288Gln)
NM_001040716.2(PC):c.92G>A (p.Arg31His)
NM_001040716.2(PC):c.952G>A (p.Gly318Ser)

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