ClinVar Miner

List of variants in gene PC reported as likely pathogenic for Pyruvate carboxylase deficiency

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Gene type:
ClinVar version:
Total variants: 95
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HGVS dbSNP gnomAD frequency
NM_001040716.2(PC):c.1892G>A (p.Arg631Gln) rs113994145 0.00006
NM_001040716.2(PC):c.1368+1G>T rs755640269 0.00001
NM_001040716.2(PC):c.2194C>T (p.Arg732Ter) rs112948607 0.00001
NM_001040716.2(PC):c.633+2T>C rs763433647 0.00001
NM_001040716.2(PC):c.806G>A (p.Arg269Gln) rs1349343839 0.00001
NM_001040716.2(PC):c.106_107delinsAGACAGT (p.Pro36fs)
NM_001040716.2(PC):c.1154_1155del (p.Arg385fs) rs1482845179
NM_001040716.2(PC):c.1216C>T (p.Arg406Cys) rs1358651584
NM_001040716.2(PC):c.1296_1304delinsGGCC (p.His432fs)
NM_001040716.2(PC):c.1351C>T (p.Arg451Cys) rs113994143
NM_001040716.2(PC):c.1357C>T (p.Arg453Ter) rs768514713
NM_001040716.2(PC):c.136+1G>T
NM_001040716.2(PC):c.1368+1G>A rs755640269
NM_001040716.2(PC):c.1369-1G>C rs2135822173
NM_001040716.2(PC):c.1372A>G (p.Asn458Asp) rs2135822119
NM_001040716.2(PC):c.1514-2A>G rs1945585636
NM_001040716.2(PC):c.1520del (p.Val507fs)
NM_001040716.2(PC):c.1526_1529del (p.Val509fs)
NM_001040716.2(PC):c.1533_1549del (p.Pro512fs)
NM_001040716.2(PC):c.1536_1537insG (p.Thr513fs)
NM_001040716.2(PC):c.1560del (p.Ser521fs)
NM_001040716.2(PC):c.1564_1565insAG (p.Pro522fs)
NM_001040716.2(PC):c.156dup (p.Phe53fs)
NM_001040716.2(PC):c.1574del (p.Thr525fs)
NM_001040716.2(PC):c.1621_1623delinsAT (p.Phe541fs)
NM_001040716.2(PC):c.1639C>T (p.Arg547Ter)
NM_001040716.2(PC):c.1745_1746del (p.Val582fs)
NM_001040716.2(PC):c.1799dup (p.Leu601fs)
NM_001040716.2(PC):c.1825+1G>A rs1565214970
NM_001040716.2(PC):c.1825+2T>G
NM_001040716.2(PC):c.1826-1G>C
NM_001040716.2(PC):c.1876C>T (p.Arg626Trp) rs1591122325
NM_001040716.2(PC):c.1980del (p.Phe660fs)
NM_001040716.2(PC):c.1983-116C>T rs2135805611
NM_001040716.2(PC):c.1989_1990dup (p.Glu664fs)
NM_001040716.2(PC):c.200_201del (p.Tyr67fs)
NM_001040716.2(PC):c.2113_2114del (p.Ser705fs)
NM_001040716.2(PC):c.2185del (p.Glu729fs)
NM_001040716.2(PC):c.220C>T (p.Gln74Ter)
NM_001040716.2(PC):c.2278C>T (p.Arg760Trp) rs563526275
NM_001040716.2(PC):c.2292del (p.Asp765fs)
NM_001040716.2(PC):c.2359dup (p.Ala787fs)
NM_001040716.2(PC):c.2369del (p.Gly790fs)
NM_001040716.2(PC):c.239_240insCTTGA (p.Asp81fs)
NM_001040716.2(PC):c.2413_2415delinsTGTATAAGAGACAG (p.Thr805fs)
NM_001040716.2(PC):c.2435C>A (p.Ala812Asp) rs2135798857
NM_001040716.2(PC):c.2473+1G>C rs1304770743
NM_001040716.2(PC):c.2473+2T>C
NM_001040716.2(PC):c.248_249insACTCACCCAAGAT (p.Tyr84fs)
NM_001040716.2(PC):c.2532_2533del (p.Tyr845fs)
NM_001040716.2(PC):c.2535C>A (p.Tyr845Ter)
NM_001040716.2(PC):c.2576C>A (p.Ser859Ter)
NM_001040716.2(PC):c.2591dup (p.Asn864fs)
NM_001040716.2(PC):c.2606G>A (p.Gly869Asp) rs1555015018
NM_001040716.2(PC):c.2606G>C (p.Gly869Ala) rs1555015018
NM_001040716.2(PC):c.2674A>T (p.Lys892Ter)
NM_001040716.2(PC):c.2695del (p.Gln899fs)
NM_001040716.2(PC):c.2800C>T (p.Gln934Ter)
NM_001040716.2(PC):c.2804_2805del (p.Ala935fs)
NM_001040716.2(PC):c.280C>T (p.Gln94Ter)
NM_001040716.2(PC):c.281_282insCCTT (p.Gln94fs)
NM_001040716.2(PC):c.2866dup (p.His956fs)
NM_001040716.2(PC):c.2898+2T>C rs2135791416
NM_001040716.2(PC):c.2898+2_2898+5del
NM_001040716.2(PC):c.295del (p.Ile99fs)
NM_001040716.2(PC):c.2971G>T (p.Glu991Ter)
NM_001040716.2(PC):c.3089del (p.Leu1030fs)
NM_001040716.2(PC):c.3141_3142delinsA (p.Phe1048fs) rs1555014332
NM_001040716.2(PC):c.3146_3147+1del
NM_001040716.2(PC):c.3147+2T>C rs2135788673
NM_001040716.2(PC):c.322-2A>G rs2135940951
NM_001040716.2(PC):c.3284dup (p.Met1095fs)
NM_001040716.2(PC):c.329dup (p.Asn110fs)
NM_001040716.2(PC):c.3306dup (p.Lys1103fs) rs1324931037
NM_001040716.2(PC):c.3359_3362dup (p.Ile1123fs) rs1555013840
NM_001040716.2(PC):c.3409_3410del (p.Leu1137fs) rs113994148
NM_001040716.2(PC):c.342_343insTTATATT (p.His115fs)
NM_001040716.2(PC):c.44del (p.Gly15fs)
NM_001040716.2(PC):c.52C>T (p.Arg18Ter) rs144583275
NM_001040716.2(PC):c.584C>T (p.Ala195Val) rs1436643226
NM_001040716.2(PC):c.597_606delinsAA (p.Gly200fs)
NM_001040716.2(PC):c.634-1G>A
NM_001040716.2(PC):c.706G>T (p.Glu236Ter)
NM_001040716.2(PC):c.731_732insGGCTTGGGATGGAG (p.His244fs)
NM_001040716.2(PC):c.736G>A (p.Glu246Lys)
NM_001040716.2(PC):c.764_765del (p.Gly255fs)
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.815A>G (p.Gln272Arg) rs1591186383
NM_001040716.2(PC):c.885_888del (p.Val296fs)
NM_001040716.2(PC):c.88del (p.Arg30fs)
NM_001040716.2(PC):c.903+2T>A rs1946669738
NM_001040716.2(PC):c.908del (p.Gly303fs)
NM_022172.2(PC):c.[2095G>A];[2095G>T]
t(1;11)(p36.32;q13.2)

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