ClinVar Miner

List of variants studied for Propionic acidemia by Illumina Laboratory Services, Illumina

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Total variants: 116
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HGVS dbSNP gnomAD frequency
NM_000282.4(PCCA):c.627A>G (p.Ala209=) rs538229 0.14245
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val) rs35719359 0.04130
NM_001195087.2(GGACT):c.*1904_*1907del rs200007489 0.01517
NM_000282.4(PCCA):c.1745C>T (p.Ser582Leu) rs16957356 0.01499
NM_000282.4(PCCA):c.1429+7A>G rs16957276 0.01356
NM_001195087.2(GGACT):c.*1849G>A rs41281122 0.00704
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe) rs61749895 0.00606
NM_000532.4(PCCB):c.-37C>T rs145734157 0.00591
NM_000282.4(PCCA):c.231+15C>T rs202049874 0.00291
NM_001195087.2(GGACT):c.*1805A>C rs113356477 0.00260
NM_000282.4(PCCA):c.1236A>G (p.Pro412=) rs41281120 0.00219
NM_000282.4(PCCA):c.1257G>A (p.Gln419=) rs147839487 0.00201
NM_000532.5(PCCB):c.*44C>T rs201452852 0.00197
NM_000532.5(PCCB):c.184-12G>T rs181283691 0.00185
NM_000532.5(PCCB):c.49C>A (p.Leu17Met) rs200185747 0.00172
NM_000532.5(PCCB):c.1490C>T (p.Ala497Val) rs142403318 0.00162
NM_000282.4(PCCA):c.1558A>T (p.Ser520Cys) rs112237881 0.00159
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln) rs150555106 0.00158
NM_000532.5(PCCB):c.872G>A (p.Cys291Tyr) rs77820367 0.00146
NM_000282.4(PCCA):c.828T>C (p.Gly276=) rs143838146 0.00143
NM_000532.5(PCCB):c.1299+9C>A rs60968242 0.00137
NM_001195087.2(GGACT):c.*1774G>C rs41281124 0.00137
NM_000532.5(PCCB):c.338G>A (p.Arg113Gln) rs138246328 0.00116
NM_000282.4(PCCA):c.2172C>T (p.Leu724=) rs150352833 0.00096
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu) rs118169528 0.00088
NM_000282.4(PCCA):c.2040+11dup rs779884567 0.00087
NM_000282.4(PCCA):c.1065+5C>T rs201597816 0.00083
NM_000532.5(PCCB):c.882C>T (p.Pro294=) rs142730126 0.00080
NM_000532.5(PCCB):c.-34G>A rs372649775 0.00074
NM_000532.5(PCCB):c.429+7G>A rs201986472 0.00073
NM_000282.4(PCCA):c.1896A>G (p.Thr632=) rs61760965 0.00071
NM_000532.5(PCCB):c.*91C>A rs115533065 0.00066
NM_000532.5(PCCB):c.1421A>G (p.Lys474Arg) rs145628302 0.00054
NM_000532.5(PCCB):c.763+10C>G rs180982841 0.00054
NM_000532.5(PCCB):c.603T>C (p.Ala201=) rs141340198 0.00050
NM_000282.4(PCCA):c.2037C>T (p.Asp679=) rs146870931 0.00035
NM_000282.4(PCCA):c.1850T>C (p.Leu617Pro) rs563417983 0.00028
NM_000532.5(PCCB):c.82C>G (p.Leu28Val) rs141137691 0.00026
NM_000532.5(PCCB):c.544-5G>C rs372351800 0.00022
NM_000282.4(PCCA):c.-20G>A rs374941593 0.00021
NM_001195087.2(GGACT):c.*1930T>G rs770148620 0.00021
NM_001195087.2(GGACT):c.*1848C>T rs886049929 0.00019
NM_000282.4(PCCA):c.328G>C (p.Val110Leu) rs150788587 0.00017
NM_000532.5(PCCB):c.1606A>G (p.Asn536Asp) rs202247823 0.00016
NM_000282.3(PCCA):c.-60C>T rs778039561 0.00014
NM_000282.4(PCCA):c.24A>G (p.Thr8=) rs117397004 0.00013
NM_000282.4(PCCA):c.1193G>C (p.Cys398Ser) rs149293297 0.00010
NM_000282.4(PCCA):c.2039C>T (p.Ala680Val) rs376383373 0.00010
NM_000532.5(PCCB):c.1154A>G (p.Asn385Ser) rs151078515 0.00010
NM_000532.5(PCCB):c.561C>T (p.Ser187=) rs145057852 0.00008
NM_000282.4(PCCA):c.1284+1G>A rs752761437 0.00007
NM_000282.4(PCCA):c.522G>A (p.Met174Ile) rs780406346 0.00006
NM_000532.5(PCCB):c.554C>T (p.Thr185Met) rs369612150 0.00006
NM_000532.5(PCCB):c.707A>G (p.Asn236Ser) rs778955184 0.00006
NM_000282.4(PCCA):c.945G>A (p.Ala315=) rs373115130 0.00005
NM_000532.5(PCCB):c.1352C>T (p.Thr451Ile) rs145135400 0.00005
NM_000282.4(PCCA):c.943G>A (p.Ala315Thr) rs759223615 0.00004
NM_001195087.2(GGACT):c.*1741A>C rs1046827974 0.00004
NM_000282.4(PCCA):c.1987C>T (p.Arg663Cys) rs200710812 0.00003
NM_000282.4(PCCA):c.803G>A (p.Arg268His) rs368047060 0.00003
NM_000532.5(PCCB):c.167A>G (p.Asp56Gly) rs1422527852 0.00003
NM_000532.5(PCCB):c.865C>T (p.Arg289Cys) rs771935604 0.00003
NM_000282.4(PCCA):c.590G>C (p.Gly197Ala) rs766245108 0.00002
NM_000282.4(PCCA):c.638-5G>A rs764316702 0.00002
NM_000282.4(PCCA):c.717-4A>G rs1046922650 0.00002
NM_000282.4(PCCA):c.946A>T (p.Met316Leu) rs200311920 0.00002
NM_000532.5(PCCB):c.-35G>A rs886058016 0.00002
NM_000532.5(PCCB):c.1372G>A (p.Ala458Thr) rs542389615 0.00002
NM_000532.5(PCCB):c.45C>T (p.Ser15=) rs754664563 0.00002
NM_000532.5(PCCB):c.595C>T (p.Pro199Ser) rs371155999 0.00002
NM_000532.5(PCCB):c.836C>T (p.Pro279Leu) rs780837200 0.00002
NM_000532.5(PCCB):c.889C>T (p.Arg297Cys) rs549397464 0.00002
NM_000282.4(PCCA):c.1445T>C (p.Ile482Thr) rs1349455848 0.00001
NM_000282.4(PCCA):c.1702A>G (p.Lys568Glu) rs755890592 0.00001
NM_000282.4(PCCA):c.230G>A (p.Arg77Gln) rs1387778734 0.00001
NM_000282.4(PCCA):c.432A>G (p.Gly144=) rs768756825 0.00001
NM_000282.4(PCCA):c.762C>T (p.Gly254=) rs758211858 0.00001
NM_000282.4(PCCA):c.778A>C (p.Ile260Leu) rs769286299 0.00001
NM_000532.5(PCCB):c.116T>C (p.Ile39Thr) rs182412270 0.00001
NM_000532.5(PCCB):c.1199-8A>G rs886058019 0.00001
NM_000532.5(PCCB):c.1253C>G (p.Ala418Gly) rs770279302 0.00001
NM_000532.5(PCCB):c.182G>A (p.Arg61Gln) rs909550005 0.00001
NM_000532.5(PCCB):c.263A>G (p.His88Arg) rs771333669 0.00001
NM_000532.5(PCCB):c.654+14G>T rs1457950469 0.00001
NM_000282.4(PCCA):c.-5C>T rs886049926
NM_000282.4(PCCA):c.1047A>T (p.Glu349Asp) rs2063431723
NM_000282.4(PCCA):c.1175A>G (p.Asn392Ser) rs202015762
NM_000282.4(PCCA):c.1404T>G (p.Asp468Glu) rs769970677
NM_000282.4(PCCA):c.1418A>G (p.Tyr473Cys) rs2066770739
NM_000282.4(PCCA):c.1819G>T (p.Val607Phe) rs751083923
NM_000282.4(PCCA):c.1953G>A (p.Leu651=) rs765771203
NM_000282.4(PCCA):c.2017G>C (p.Val673Leu) rs142646074
NM_000282.4(PCCA):c.346C>G (p.Pro116Ala) rs1566594619
NM_000282.4(PCCA):c.42C>T (p.Ala14=) rs200714802
NM_000282.4(PCCA):c.615dup (p.Val206fs) rs1566767338
NM_000282.4(PCCA):c.923dup (p.Leu308fs) rs573607437
NM_000282.4(PCCA):c.929C>G (p.Ala310Gly) rs146927771
NM_000532.4(PCCB):c.-46A>T rs751837162
NM_000532.5(PCCB):c.*128_*132del rs886058021
NM_000532.5(PCCB):c.1221del (p.Ile408fs) rs1560033769
NM_000532.5(PCCB):c.1226del (p.Ile409fs) rs1560033794
NM_000532.5(PCCB):c.1402G>A (p.Ala468Thr) rs775563122
NM_000532.5(PCCB):c.1452A>G (p.Ala484=) rs781556055
NM_000532.5(PCCB):c.1520A>G (p.Gln507Arg) rs886058020
NM_000532.5(PCCB):c.163A>T (p.Ile55Phe) rs561539546
NM_000532.5(PCCB):c.183+5G>A rs879253813
NM_000532.5(PCCB):c.185G>C (p.Gly62Ala) rs886058017
NM_000532.5(PCCB):c.368G>T (p.Ser123Ile) rs1941677490
NM_000532.5(PCCB):c.553del (p.Thr185fs) rs886058018
NM_000532.5(PCCB):c.555G>C (p.Thr185=) rs543691110
NM_000532.5(PCCB):c.850G>A (p.Asp284Asn) rs777434061
NM_000532.5(PCCB):c.884G>C (p.Ser295Thr) rs752029455
NM_000532.5(PCCB):c.94G>A (p.Ala32Thr) rs751136139
NM_001195087.2(GGACT):c.*1774G>A rs41281124
NM_001195087.2(GGACT):c.*1811dup rs140492017
NM_001195087.2(GGACT):c.*1873T>C rs2088307404

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