ClinVar Miner

List of variants reported as benign for Pyruvate carboxylase deficiency

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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_001040716.2(PC):c.2224-9T>G rs45560936 0.03311
NM_001040716.2(PC):c.-274A>C rs192495346 0.01355
NM_001040716.2(PC):c.2580C>T (p.Asp860=) rs45584036 0.01323
NM_001040716.2(PC):c.2619C>T (p.Asn873=) rs2229745 0.01182
NM_001040716.2(PC):c.2249C>T (p.Thr750Met) rs145400751 0.00662
NM_001040716.2(PC):c.2682T>C (p.Tyr894=) rs56705397 0.00598
NM_001040716.2(PC):c.85G>A (p.Val29Ile) rs45471099 0.00394
NM_001040716.2(PC):c.321+5G>A rs200766019 0.00264
NM_001040716.2(PC):c.1608G>A (p.Pro536=) rs139074169 0.00210
NM_001040716.2(PC):c.1344G>A (p.Ala448=) rs148281644 0.00158
NM_001040716.2(PC):c.2223+19C>T rs45457699 0.00153
NM_001040716.2(PC):c.951C>T (p.His317=) rs142309583 0.00147
NM_001040716.2(PC):c.616G>T (p.Val206Leu) rs147945506 0.00126
NM_001040716.2(PC):c.1604-17G>A rs79317761 0.00103
NM_001040716.2(PC):c.1513+13del rs755170894 0.00099
NM_001040716.2(PC):c.52C>A (p.Arg18=) rs144583275 0.00086
NM_001040716.2(PC):c.904-17C>T rs199565222 0.00083
NM_001040716.2(PC):c.2856C>T (p.Ile952=) rs183661331 0.00065
NM_001040716.2(PC):c.216G>A (p.Thr72=) rs117711892 0.00058
NM_001040716.2(PC):c.3198C>T (p.Ser1066=) rs144087445 0.00031
NM_001040716.2(PC):c.2577G>A (p.Ser859=) rs199879375 0.00029
NM_001040716.2(PC):c.1401C>T (p.Asn467=) rs45623237 0.00028
NM_001040716.2(PC):c.1683G>A (p.Pro561=) rs113071273 0.00019
NM_001040716.2(PC):c.1702A>G (p.Thr568Ala) rs199969388 0.00016
NM_001040716.2(PC):c.1494A>G (p.Gln498=) rs761935997 0.00014
NM_001040716.2(PC):c.2586T>C (p.Tyr862=) rs191620803 0.00009
NM_001040716.2(PC):c.322-10C>T rs371834866 0.00007
NM_001040716.2(PC):c.3042C>T (p.Pro1014=) rs370090137 0.00006
NM_001040716.2(PC):c.879C>T (p.Ser293=) rs183131461 0.00004
NM_001040716.2(PC):c.1167G>A (p.Pro389=) rs556534486 0.00002
NM_001040716.2(PC):c.2535C>T (p.Tyr845=) rs534635326 0.00001
NM_001040716.2(PC):c.3234T>C (p.Phe1078=) rs531640812 0.00001
NM_001040716.2(PC):c.634-5C>T rs373145902 0.00001
NM_001040716.2(PC):c.*106G>T rs45505701
NM_001040716.2(PC):c.1023-14C>G rs111858832
NM_001040716.2(PC):c.1368+19del
NM_001040716.2(PC):c.1513+9C>A rs45580638
NM_001040716.2(PC):c.2224-31TC[8] rs139065746
NM_001040716.2(PC):c.2224-3del rs1292656088
NM_001040716.2(PC):c.2592T>C (p.Asn864=) rs375784582
NM_001040716.2(PC):c.2899-3del rs752139338
NM_001040716.2(PC):c.322-9dup rs2135941001
NM_001040716.2(PC):c.3288+14del
NM_001040716.2(PC):c.904-5dup rs2135929887

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