ClinVar Miner

List of variants in gene IARS2 reported as uncertain significance by GeneDx

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_018060.4(IARS2):c.2122G>A (p.Glu708Lys) rs143722284 0.00089
NM_018060.4(IARS2):c.1057A>T (p.Thr353Ser) rs141215374 0.00083
NM_018060.4(IARS2):c.1016C>T (p.Ser339Phe) rs139437119 0.00061
NM_018060.4(IARS2):c.479T>C (p.Ile160Thr) rs149036509 0.00056
NM_018060.4(IARS2):c.2014G>A (p.Val672Ile) rs368264345 0.00013
NM_018060.4(IARS2):c.515C>G (p.Ala172Gly) rs141275528 0.00012
NM_018060.4(IARS2):c.2360G>A (p.Arg787Gln) rs189118525 0.00010
NM_018060.4(IARS2):c.800G>A (p.Arg267His) rs377432411 0.00005
NM_018060.4(IARS2):c.1160G>T (p.Gly387Val) rs748379506 0.00004
NM_018060.4(IARS2):c.1207G>A (p.Gly403Ser) rs201122237 0.00004
NM_018060.4(IARS2):c.555A>T (p.Arg185Ser) rs201046842 0.00004
NM_018060.4(IARS2):c.749G>C (p.Arg250Thr) rs199575981 0.00004
NM_018060.4(IARS2):c.1151T>C (p.Met384Thr) rs182541053 0.00003
NM_018060.4(IARS2):c.2045G>A (p.Gly682Glu) rs775422624 0.00003
NM_018060.4(IARS2):c.1013C>T (p.Ala338Val) rs749970922 0.00001
NM_018060.4(IARS2):c.1027A>G (p.Thr343Ala) rs371011410 0.00001
NM_018060.4(IARS2):c.1549C>T (p.Arg517Trp) rs759787338 0.00001
NM_018060.4(IARS2):c.1886G>C (p.Gly629Ala) rs1253827792 0.00001
NM_018060.4(IARS2):c.2441C>A (p.Pro814His) rs750326380 0.00001
NM_018060.4(IARS2):c.2632G>A (p.Ala878Thr) rs1041910674 0.00001
NM_018060.4(IARS2):c.2767G>A (p.Glu923Lys) rs1558133314 0.00001
NM_018060.4(IARS2):c.1256A>G (p.Asp419Gly) rs765057802
NM_018060.4(IARS2):c.1426C>T (p.Arg476Cys)
NM_018060.4(IARS2):c.1530G>A (p.Met510Ile)
NM_018060.4(IARS2):c.1646C>T (p.Thr549Ile)
NM_018060.4(IARS2):c.1943A>C (p.Tyr648Ser) rs142067804
NM_018060.4(IARS2):c.208A>G (p.Ser70Gly) rs2528482297
NM_018060.4(IARS2):c.2111A>G (p.Asn704Ser) rs138738853
NM_018060.4(IARS2):c.2171G>A (p.Ser724Asn)
NM_018060.4(IARS2):c.2175+1G>A rs1057520702
NM_018060.4(IARS2):c.2266G>C (p.Asp756His) rs2102840131
NM_018060.4(IARS2):c.2450G>T (p.Arg817Leu) rs146618526
NM_018060.4(IARS2):c.2483A>T (p.Asp828Val)
NM_018060.4(IARS2):c.2645C>T (p.Ala882Val)
NM_018060.4(IARS2):c.2806G>T (p.Ala936Ser)
NM_018060.4(IARS2):c.2952_2958dup (p.Cys987fs) rs1553272319
NM_018060.4(IARS2):c.2977T>C (p.Tyr993His)
NM_018060.4(IARS2):c.353C>T (p.Ala118Val) rs1226346684
NM_018060.4(IARS2):c.638A>G (p.Tyr213Cys)
NM_018060.4(IARS2):c.866C>T (p.Ser289Leu) rs1571845317

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