ClinVar Miner

List of variants in gene DARS2 reported by GeneDx

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Gene type:
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Total variants: 135
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HGVS dbSNP gnomAD frequency
NM_018122.5(DARS2):c.1675-112T>G rs2295366 0.32363
NM_018122.5(DARS2):c.228-20T>C rs55878143 0.21856
NM_018122.5(DARS2):c.127+303C>T rs74415834 0.21716
NM_018122.5(DARS2):c.1345-266A>G rs2281486 0.20872
NM_018122.5(DARS2):c.771-171C>T rs3791021 0.19195
NM_018122.5(DARS2):c.228-245T>C rs7552840 0.09798
NM_018122.5(DARS2):c.1128+128A>G rs6675762 0.09765
NM_018122.5(DARS2):c.*210T>C rs9425758 0.09751
NM_018122.5(DARS2):c.294+215A>G rs75302147 0.07837
NM_018122.5(DARS2):c.227+245A>G rs2068871 0.07823
NM_018122.5(DARS2):c.1129-109T>C rs77124001 0.07819
NM_018122.5(DARS2):c.396+312C>T rs12079240 0.06786
NM_018122.5(DARS2):c.1750+19T>G rs57068378 0.06626
NM_018122.5(DARS2):c.1129-143C>T rs12084213 0.06251
NM_018122.5(DARS2):c.1675-137A>G rs12078471 0.06229
NM_018122.5(DARS2):c.587A>G (p.Lys196Arg) rs35515638 0.02693
NM_018122.5(DARS2):c.663+8T>C rs73037062 0.02691
NM_018122.5(DARS2):c.227+29C>T rs6425260 0.02689
NM_018122.5(DARS2):c.227+28G>T rs6425259 0.02687
NM_018122.5(DARS2):c.1013G>A (p.Gly338Glu) rs141298312 0.02511
NM_018122.5(DARS2):c.1750+40T>C rs59693622 0.02203
NM_018122.5(DARS2):c.397-6T>G rs115051769 0.01810
NM_018122.5(DARS2):c.1344+294T>A rs80232493 0.01779
NM_018122.5(DARS2):c.1128+59C>T rs143616878 0.00970
NM_018122.5(DARS2):c.1129-263del rs199567721 0.00944
NM_018122.5(DARS2):c.841-40T>C rs146597861 0.00838
NM_018122.5(DARS2):c.396+57G>C rs146039643 0.00758
NM_018122.5(DARS2):c.493-3T>C rs140326200 0.00699
NM_018122.5(DARS2):c.127+172G>T rs34756615 0.00571
NM_018122.5(DARS2):c.228-21_228-20insC rs367543010 0.00491
NM_018122.5(DARS2):c.128-21T>C rs573719917 0.00480
NM_018122.5(DARS2):c.1192-308G>A rs144549208 0.00437
NM_018122.5(DARS2):c.1674+127C>G rs116552130 0.00414
NM_018122.5(DARS2):c.1642C>A (p.Leu548Met) rs149660059 0.00412
NM_018122.5(DARS2):c.1021-48A>G rs80063322 0.00381
NM_018122.5(DARS2):c.1192-28del rs60221533 0.00376
NM_018122.5(DARS2):c.128-4A>T rs769597479 0.00300
NM_018122.5(DARS2):c.188G>A (p.Gly63Asp) rs114714497 0.00099
NM_018122.5(DARS2):c.128-5T>A rs200078808 0.00084
NM_018122.5(DARS2):c.397-42C>T rs76910352 0.00047
NM_018122.5(DARS2):c.580G>A (p.Val194Ile) rs186723843 0.00040
NM_018122.5(DARS2):c.492+2T>C rs142433332 0.00034
NM_018122.5(DARS2):c.127+27A>G rs201081133 0.00031
NM_018122.5(DARS2):c.1758C>T (p.Asp586=) rs371048800 0.00031
NM_018122.5(DARS2):c.1345-16C>T rs200214952 0.00023
NM_018122.5(DARS2):c.228-19C>T rs56302419 0.00012
NM_018122.5(DARS2):c.455G>T (p.Cys152Phe) rs121918208 0.00011
NM_018122.5(DARS2):c.91A>G (p.Arg31Gly) rs140881109 0.00011
NM_018122.5(DARS2):c.396+2T>G rs759123043 0.00006
NM_018122.5(DARS2):c.1497G>A (p.Ser499=) rs201884983 0.00005
NM_018122.5(DARS2):c.1660G>A (p.Ala554Thr) rs147603024 0.00005
NM_018122.5(DARS2):c.536G>A (p.Arg179His) rs121918210 0.00004
NM_018122.5(DARS2):c.1800T>C (p.Asp600=) rs1457626345 0.00003
NM_018122.5(DARS2):c.374G>A (p.Arg125His) rs774630991 0.00003
NM_018122.5(DARS2):c.469T>A (p.Phe157Ile) rs1366700431 0.00003
NM_018122.5(DARS2):c.508C>T (p.Arg170Trp) rs776515724 0.00002
NM_018122.5(DARS2):c.788G>A (p.Arg263Gln) rs121918207 0.00002
NM_018122.5(DARS2):c.1564-13G>A rs747157402 0.00001
NM_018122.5(DARS2):c.1567C>T (p.Arg523Cys) rs771329506 0.00001
NM_018122.5(DARS2):c.1825C>T (p.Arg609Trp) rs200670286 0.00001
NM_018122.5(DARS2):c.303C>T (p.Ala101=) rs781148189 0.00001
NM_018122.5(DARS2):c.473A>T (p.Glu158Val) rs1395997099 0.00001
NM_018122.5(DARS2):c.509G>A (p.Arg170Gln) rs759658461 0.00001
NM_018122.5(DARS2):c.567G>A (p.Leu189=) rs547708828 0.00001
NM_018122.5(DARS2):c.668C>G (p.Ala223Gly) rs1332636687 0.00001
NM_018122.5(DARS2):c.742C>A (p.Gln248Lys) rs772489337 0.00001
NM_018122.5(DARS2):c.785C>T (p.Ala262Val) rs1281179187 0.00001
NM_018122.5(DARS2):c.939T>G (p.Val313=) rs777837584 0.00001
NM_018122.5(DARS2):c.1094del (p.Gly365fs) rs1553202681
NM_018122.5(DARS2):c.1129-308_1129-299del rs147239166
NM_018122.5(DARS2):c.1192-29dup rs199872112
NM_018122.5(DARS2):c.127+88dup rs558233437
NM_018122.5(DARS2):c.127+92_127+93insTATTATTATTAT rs1167728196
NM_018122.5(DARS2):c.127+92_127+93insTATTATTATTATTAT rs1167728196
NM_018122.5(DARS2):c.127+94ATT[10] rs55949406
NM_018122.5(DARS2):c.127+94ATT[13] rs55949406
NM_018122.5(DARS2):c.127+94ATT[14] rs55949406
NM_018122.5(DARS2):c.127+94ATT[15] rs55949406
NM_018122.5(DARS2):c.127+94ATT[16] rs55949406
NM_018122.5(DARS2):c.127+94ATT[9] rs55949406
NM_018122.5(DARS2):c.1272_1273delinsC (p.Glu425fs) rs1553204327
NM_018122.5(DARS2):c.128-5dup rs746151025
NM_018122.5(DARS2):c.128-6_128-5dup rs746151025
NM_018122.5(DARS2):c.128-7_128-5dup rs746151025
NM_018122.5(DARS2):c.1344+141_1344+142dup rs66665709
NM_018122.5(DARS2):c.1344+142del rs66665709
NM_018122.5(DARS2):c.1344+142dup rs66665709
NM_018122.5(DARS2):c.1355T>G (p.Leu452Ter) rs1057524364
NM_018122.5(DARS2):c.1452C>G (p.Phe484Leu) rs181672516
NM_018122.5(DARS2):c.1501C>T (p.His501Tyr) rs1064793097
NM_018122.5(DARS2):c.1504C>G (p.His502Asp) rs1553204841
NM_018122.5(DARS2):c.1744G>A (p.Ala582Thr)
NM_018122.5(DARS2):c.1762C>G (p.Leu588Val) rs972404343
NM_018122.5(DARS2):c.1768T>A (p.Cys590Ser)
NM_018122.5(DARS2):c.1768T>C (p.Cys590Arg) rs761821824
NM_018122.5(DARS2):c.228-10C>G rs201817953
NM_018122.5(DARS2):c.228-10del rs374122386
NM_018122.5(DARS2):c.228-10dup rs374122386
NM_018122.5(DARS2):c.228-12C>A rs9425753
NM_018122.5(DARS2):c.228-12C>G rs9425753
NM_018122.5(DARS2):c.228-14C>G rs376561321
NM_018122.5(DARS2):c.228-15C>A rs200392167
NM_018122.5(DARS2):c.228-15C>T rs200392167
NM_018122.5(DARS2):c.228-16C>A rs778731200
NM_018122.5(DARS2):c.228-20del rs143246542
NM_018122.5(DARS2):c.228-20delinsCC rs1553201265
NM_018122.5(DARS2):c.228-20dup rs143246542
NM_018122.5(DARS2):c.228-21_228-20delinsC rs1553201258
NM_018122.5(DARS2):c.228-21_228-20delinsCC
NM_018122.5(DARS2):c.259G>T (p.Asp87Tyr)
NM_018122.5(DARS2):c.382G>C (p.Gly128Arg)
NM_018122.5(DARS2):c.397-2A>G
NM_018122.5(DARS2):c.493-306C>T rs61625780
NM_018122.5(DARS2):c.493-77del rs3835254
NM_018122.5(DARS2):c.503C>T (p.Ala168Val) rs760503098
NM_018122.5(DARS2):c.505C>T (p.Leu169Phe) rs1064794825
NM_018122.5(DARS2):c.527T>C (p.Leu176Ser) rs1085307970
NM_018122.5(DARS2):c.662G>A (p.Gly221Glu) rs2102642217
NM_018122.5(DARS2):c.663+225_663+226insC rs60713728
NM_018122.5(DARS2):c.663+226T>A rs9425754
NM_018122.5(DARS2):c.663+226T>C rs9425754
NM_018122.5(DARS2):c.663+263G>T rs55884829
NM_018122.5(DARS2):c.663+279del rs558344998
NM_018122.5(DARS2):c.663+279dup rs558344998
NM_018122.5(DARS2):c.664-17_664-14del rs563212168
NM_018122.5(DARS2):c.742C>T (p.Gln248Ter) rs772489337
NM_018122.5(DARS2):c.749T>C (p.Leu250Pro) rs778283912
NM_018122.5(DARS2):c.770+242del rs372381381
NM_018122.5(DARS2):c.770+242dup rs372381381
NM_018122.5(DARS2):c.787C>T (p.Arg263Ter) rs121918206
NM_018122.5(DARS2):c.796C>T (p.Arg266Ter)
NM_018122.5(DARS2):c.79G>A (p.Gly27Ser)
NM_018122.5(DARS2):c.829G>A (p.Glu277Lys) rs1396541001
NM_018122.5(DARS2):c.840+165del rs111398321
NM_018122.5(DARS2):c.948del (p.Pro317fs) rs1085307776

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