ClinVar Miner

List of variants in gene YARS1 reported as uncertain significance for Charcot-Marie-Tooth disease dominant intermediate C

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 205
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HGVS dbSNP gnomAD frequency
NM_003680.4(YARS1):c.*599A>C rs542816112 0.00118
NM_003680.4(YARS1):c.*539A>G rs550239801 0.00043
NM_003680.4(YARS1):c.1348C>T (p.Arg450Cys) rs141955005 0.00011
NM_003680.4(YARS1):c.347A>T (p.Lys116Met) rs148823175 0.00009
NM_003680.4(YARS1):c.*399G>A rs890588915 0.00007
NM_003680.4(YARS1):c.*369G>A rs879511403 0.00006
NM_003680.4(YARS1):c.1349G>A (p.Arg450His) rs147005844 0.00006
NM_003680.4(YARS1):c.1570G>C (p.Gly524Arg) rs141974881 0.00006
NM_003680.4(YARS1):c.946G>A (p.Ala316Thr) rs138454151 0.00006
NM_003680.4(YARS1):c.989C>A (p.Thr330Asn) rs568526224 0.00005
NM_003680.4(YARS1):c.1435G>A (p.Glu479Lys) rs142142194 0.00004
NM_003680.4(YARS1):c.221C>T (p.Ala74Val) rs1429267110 0.00004
NM_003680.4(YARS1):c.1154A>C (p.Asp385Ala) rs1057524362 0.00003
NM_003680.4(YARS1):c.1405del (p.Phe468_Val469insTer) rs777156625 0.00003
NM_003680.4(YARS1):c.1448C>T (p.Pro483Leu) rs769592872 0.00003
NM_003680.4(YARS1):c.1507G>A (p.Ala503Thr) rs778099655 0.00003
NM_003680.4(YARS1):c.211A>G (p.Ile71Val) rs145768628 0.00003
NM_003680.4(YARS1):c.298G>A (p.Val100Met) rs766704849 0.00003
NM_003680.4(YARS1):c.362C>G (p.Thr121Ser) rs748842928 0.00003
NM_003680.4(YARS1):c.569A>G (p.Lys190Arg) rs750198437 0.00003
NM_003680.4(YARS1):c.937G>A (p.Val313Ile) rs147074773 0.00003
NM_003680.4(YARS1):c.1042+3A>C rs772446297 0.00002
NM_003680.4(YARS1):c.1227C>A (p.Phe409Leu) rs763636325 0.00002
NM_003680.4(YARS1):c.1243C>A (p.Leu415Met) rs774750132 0.00002
NM_003680.4(YARS1):c.1303G>A (p.Glu435Lys) rs777567617 0.00002
NM_003680.4(YARS1):c.1487A>G (p.Lys496Arg) rs768160751 0.00002
NM_003680.4(YARS1):c.209C>T (p.Thr70Ile) rs771657997 0.00002
NM_003680.4(YARS1):c.260G>A (p.Trp87Ter) rs776952611 0.00002
NM_003680.4(YARS1):c.310A>G (p.Met104Val) rs763185222 0.00002
NM_003680.4(YARS1):c.684+3A>G rs375332060 0.00002
NM_003680.4(YARS1):c.*724T>C rs950577466 0.00001
NM_003680.4(YARS1):c.1012A>G (p.Ser338Gly) rs763921769 0.00001
NM_003680.4(YARS1):c.1014C>G (p.Ser338Arg) rs142035566 0.00001
NM_003680.4(YARS1):c.1049T>C (p.Met350Thr) rs1490757097 0.00001
NM_003680.4(YARS1):c.1100G>A (p.Arg367Gln) rs762473756 0.00001
NM_003680.4(YARS1):c.1140+6C>T rs1653037113 0.00001
NM_003680.4(YARS1):c.1180G>A (p.Val394Met) rs863224717 0.00001
NM_003680.4(YARS1):c.1199G>A (p.Arg400Gln) rs746892773 0.00001
NM_003680.4(YARS1):c.1207G>A (p.Val403Met) rs745651845 0.00001
NM_003680.4(YARS1):c.1373C>T (p.Pro458Leu) rs762042274 0.00001
NM_003680.4(YARS1):c.1415A>G (p.Tyr472Cys) rs1214337748 0.00001
NM_003680.4(YARS1):c.1531A>G (p.Met511Val) rs1569696187 0.00001
NM_003680.4(YARS1):c.1543G>A (p.Gly515Ser) rs879254282 0.00001
NM_003680.4(YARS1):c.1549A>G (p.Ile517Val) rs371220818 0.00001
NM_003680.4(YARS1):c.1584C>G (p.Ser528Arg) rs774884649 0.00001
NM_003680.4(YARS1):c.166A>G (p.Met56Val) rs141115281 0.00001
NM_003680.4(YARS1):c.176T>C (p.Ile59Thr) rs774466323 0.00001
NM_003680.4(YARS1):c.181G>A (p.Asp61Asn) rs776582429 0.00001
NM_003680.4(YARS1):c.190A>C (p.Lys64Gln) rs1322723317 0.00001
NM_003680.4(YARS1):c.277C>T (p.Arg93Ter) rs781579762 0.00001
NM_003680.4(YARS1):c.322A>G (p.Ile108Val) rs1467446637 0.00001
NM_003680.4(YARS1):c.391C>T (p.Leu131=) rs759430430 0.00001
NM_003680.4(YARS1):c.502G>A (p.Gly168Arg) rs1473184666 0.00001
NM_003680.4(YARS1):c.557T>C (p.Ile186Thr) rs766166915 0.00001
NM_003680.4(YARS1):c.58-2A>G rs371699331 0.00001
NM_003680.4(YARS1):c.602C>T (p.Ala201Val) rs1380442148 0.00001
NM_003680.4(YARS1):c.642G>A (p.Met214Ile) rs930469813 0.00001
NM_003680.4(YARS1):c.922G>T (p.Asp308Tyr) rs1207371448 0.00001
NM_003680.4(YARS1):c.977A>G (p.Glu326Gly) rs1433806469 0.00001
NC_000001.10:g.(?_33246629)_(33248160_?)del
NC_000001.10:g.(?_33247985)_(33248160_?)del
NC_000001.10:g.(?_33251953)_(33252686_?)del
NC_000001.10:g.(?_33256743)_(33272232_?)del
NC_000001.10:g.(?_33276172)_(33276678_?)del
NC_000001.10:g.(?_33276172)_(33282845_?)dup
NC_000001.11:g.(?_32775971)_(32797853_?)dup
NC_000001.11:g.(?_32810581)_(32811067_?)del
NC_000001.11:g.(?_32810591)_(32811057_?)del
NM_003680.4(YARS1):c.1005_1006insT (p.Leu336fs) rs2148601348
NM_003680.4(YARS1):c.1005del (p.Lys335fs) rs1653090321
NM_003680.4(YARS1):c.1010C>G (p.Ala337Gly)
NM_003680.4(YARS1):c.101G>A (p.Arg34Gln)
NM_003680.4(YARS1):c.1033T>G (p.Ser345Ala)
NM_003680.4(YARS1):c.1042+6G>A rs1653088376
NM_003680.4(YARS1):c.1042A>G (p.Lys348Glu) rs2148601296
NM_003680.4(YARS1):c.1048A>G (p.Met350Val) rs1553122785
NM_003680.4(YARS1):c.1078C>G (p.Pro360Ala)
NM_003680.4(YARS1):c.1086G>C (p.Glu362Asp)
NM_003680.4(YARS1):c.1094del (p.Pro365fs) rs1413975578
NM_003680.4(YARS1):c.1117G>A (p.Gly373Arg) rs764584188
NM_003680.4(YARS1):c.1118_1135dup (p.Val378_Glu379insGlyLysIleIleThrVal)
NM_003680.4(YARS1):c.1124T>A (p.Ile375Asn)
NM_003680.4(YARS1):c.112del (p.Ile38fs) rs771840678
NM_003680.4(YARS1):c.1138A>C (p.Lys380Gln) rs1405248711
NM_003680.4(YARS1):c.1140+4C>G
NM_003680.4(YARS1):c.1165G>A (p.Val389Ile)
NM_003680.4(YARS1):c.1175T>C (p.Ile392Thr) rs749411607
NM_003680.4(YARS1):c.1181T>G (p.Val394Gly) rs2148599987
NM_003680.4(YARS1):c.1190C>G (p.Ala397Gly) rs2148599973
NM_003680.4(YARS1):c.1190C>T (p.Ala397Val)
NM_003680.4(YARS1):c.1195C>T (p.Pro399Ser)
NM_003680.4(YARS1):c.1198C>T (p.Arg400Trp) rs1179946635
NM_003680.4(YARS1):c.1204G>A (p.Val402Met)
NM_003680.4(YARS1):c.1222C>T (p.Gln408Ter)
NM_003680.4(YARS1):c.122G>A (p.Gly41Glu) rs1569778143
NM_003680.4(YARS1):c.1249G>A (p.Asp417Asn)
NM_003680.4(YARS1):c.1252A>G (p.Arg418Gly) rs2148599905
NM_003680.4(YARS1):c.1255C>T (p.Leu419=)
NM_003680.4(YARS1):c.125C>T (p.Thr42Met)
NM_003680.4(YARS1):c.1261G>A (p.Val421Met)
NM_003680.4(YARS1):c.1276del (p.Asn425_Leu426insTer) rs764028295
NM_003680.4(YARS1):c.1281dup (p.Pro428fs) rs1653003533
NM_003680.4(YARS1):c.1285C>T (p.Gln429Ter)
NM_003680.4(YARS1):c.1298G>T (p.Gly433Val) rs2148599873
NM_003680.4(YARS1):c.130A>G (p.Thr44Ala) rs1638571973
NM_003680.4(YARS1):c.1324T>G (p.Cys442Gly)
NM_003680.4(YARS1):c.1328C>A (p.Ala443Asp)
NM_003680.4(YARS1):c.1330T>G (p.Ser444Ala) rs2148599848
NM_003680.4(YARS1):c.1337A>T (p.Glu446Val)
NM_003680.4(YARS1):c.1349G>C (p.Arg450Pro) rs147005844
NM_003680.4(YARS1):c.1349G>T (p.Arg450Leu)
NM_003680.4(YARS1):c.1353G>C (p.Gln451His)
NM_003680.4(YARS1):c.1361C>T (p.Pro454Leu) rs1569705205
NM_003680.4(YARS1):c.1385C>G (p.Ala462Gly)
NM_003680.4(YARS1):c.1387C>G (p.Pro463Ala) rs1230021901
NM_003680.4(YARS1):c.1396C>G (p.His466Asp)
NM_003680.4(YARS1):c.1400T>G (p.Val467Gly)
NM_003680.4(YARS1):c.140A>G (p.Lys47Arg)
NM_003680.4(YARS1):c.1418A>G (p.Glu473Gly) rs770972459
NM_003680.4(YARS1):c.1433A>T (p.Asp478Val)
NM_003680.4(YARS1):c.1435GAG[1] (p.Glu480del)
NM_003680.4(YARS1):c.1439A>G (p.Glu480Gly)
NM_003680.4(YARS1):c.1451A>G (p.Lys484Arg)
NM_003680.4(YARS1):c.1476+2T>C rs1553122620
NM_003680.4(YARS1):c.1480G>A (p.Asp494Asn) rs367622240
NM_003680.4(YARS1):c.1487A>C (p.Lys496Thr) rs768160751
NM_003680.4(YARS1):c.1507G>C (p.Ala503Pro)
NM_003680.4(YARS1):c.1507G>T (p.Ala503Ser) rs778099655
NM_003680.4(YARS1):c.1514G>A (p.Trp505Ter) rs1553122276
NM_003680.4(YARS1):c.1523C>A (p.Thr508Asn)
NM_003680.4(YARS1):c.1523C>T (p.Thr508Ile)
NM_003680.4(YARS1):c.1568A>G (p.Lys523Arg)
NM_003680.4(YARS1):c.1571G>C (p.Gly524Ala) rs201687117
NM_003680.4(YARS1):c.1571G>T (p.Gly524Val) rs201687117
NM_003680.4(YARS1):c.1574G>A (p.Gly525Glu) rs774982567
NM_003680.4(YARS1):c.1577A>T (p.Asn526Ile) rs771633110
NM_003680.4(YARS1):c.1579A>G (p.Ile527Val)
NM_003680.4(YARS1):c.161T>C (p.Val54Ala)
NM_003680.4(YARS1):c.167T>C (p.Met56Thr)
NM_003680.4(YARS1):c.177T>G (p.Ile59Met) rs1240096439
NM_003680.4(YARS1):c.178G>A (p.Ala60Thr) rs367649729
NM_003680.4(YARS1):c.194_202del (p.Ala65_Cys67del) rs2148616655
NM_003680.4(YARS1):c.205-2A>G rs538137948
NM_003680.4(YARS1):c.206dup (p.Thr70fs)
NM_003680.4(YARS1):c.209C>G (p.Thr70Arg) rs771657997
NM_003680.4(YARS1):c.214C>A (p.Leu72Met)
NM_003680.4(YARS1):c.232G>A (p.Ala78Thr) rs778307213
NM_003680.4(YARS1):c.233C>G (p.Ala78Gly)
NM_003680.4(YARS1):c.241G>C (p.Asp81His) rs587777891
NM_003680.4(YARS1):c.244A>G (p.Asn82Asp)
NM_003680.4(YARS1):c.248T>C (p.Met83Thr)
NM_003680.4(YARS1):c.265C>T (p.Leu89Phe) rs2148616548
NM_003680.4(YARS1):c.271G>C (p.Glu91Gln)
NM_003680.4(YARS1):c.290A>G (p.Tyr97Cys) rs1360212575
NM_003680.4(YARS1):c.294G>C (p.Glu98Asp) rs146442827
NM_003680.4(YARS1):c.326G>A (p.Gly109Asp) rs1638562641
NM_003680.4(YARS1):c.331C>T (p.Pro111Ser)
NM_003680.4(YARS1):c.347A>G (p.Lys116Arg) rs148823175
NM_003680.4(YARS1):c.380+4A>G rs1638561575
NM_003680.4(YARS1):c.386A>G (p.Tyr129Cys)
NM_003680.4(YARS1):c.389C>T (p.Thr130Ile)
NM_003680.4(YARS1):c.395A>T (p.Asp132Val) rs2148614994
NM_003680.4(YARS1):c.397G>A (p.Val133Met)
NM_003680.4(YARS1):c.410C>G (p.Ser137Cys) rs770608909
NM_003680.4(YARS1):c.416T>C (p.Val139Ala)
NM_003680.4(YARS1):c.424C>A (p.Gln142Lys) rs1470898248
NM_003680.4(YARS1):c.424C>T (p.Gln142Ter)
NM_003680.4(YARS1):c.425A>G (p.Gln142Arg) rs1638471229
NM_003680.4(YARS1):c.440A>C (p.Lys147Thr) rs769290451
NM_003680.4(YARS1):c.451G>A (p.Glu151Lys) rs2148614952
NM_003680.4(YARS1):c.457G>A (p.Val153Ile)
NM_003680.4(YARS1):c.466G>A (p.Val156Met)
NM_003680.4(YARS1):c.466G>T (p.Val156Leu) rs781752618
NM_003680.4(YARS1):c.488G>T (p.Gly163Val) rs1638469949
NM_003680.4(YARS1):c.497A>G (p.Tyr166Cys) rs2148614924
NM_003680.4(YARS1):c.501del (p.Gly168fs)
NM_003680.4(YARS1):c.511-14G>A rs1057515513
NM_003680.4(YARS1):c.511-3C>G
NM_003680.4(YARS1):c.523G>T (p.Glu175Ter) rs1553124472
NM_003680.4(YARS1):c.542C>A (p.Ala181Asp) rs1191925938
NM_003680.4(YARS1):c.560A>G (p.Asp187Gly) rs1653653041
NM_003680.4(YARS1):c.564G>C (p.Gln188His)
NM_003680.4(YARS1):c.579C>T (p.Thr193=) rs1344194115
NM_003680.4(YARS1):c.58-4A>G
NM_003680.4(YARS1):c.587A>G (p.Glu196Gly) rs2148610315
NM_003680.4(YARS1):c.591+3G>C rs2148610311
NM_003680.4(YARS1):c.591+4_591+7del
NM_003680.4(YARS1):c.602C>G (p.Ala201Gly) rs1380442148
NM_003680.4(YARS1):c.619C>T (p.Arg207Trp) rs1653403342
NM_003680.4(YARS1):c.622G>A (p.Val208Ile)
NM_003680.4(YARS1):c.631A>T (p.Met211Leu) rs1426757940
NM_003680.4(YARS1):c.640A>G (p.Met214Val)
NM_003680.4(YARS1):c.642G>C (p.Met214Ile)
NM_003680.4(YARS1):c.644T>C (p.Val215Ala) rs2148606461
NM_003680.4(YARS1):c.662G>A (p.Ser221Asn) rs1653401735
NM_003680.4(YARS1):c.670A>G (p.Ser224Gly)
NM_003680.4(YARS1):c.76A>G (p.Lys26Glu)
NM_003680.4(YARS1):c.88A>T (p.Ile30Leu)
NM_003680.4(YARS1):c.910G>T (p.Val304Leu) rs2148601486
NM_003680.4(YARS1):c.92T>C (p.Leu31Pro) rs781102946
NM_003680.4(YARS1):c.970A>G (p.Ile324Val)
NM_003680.4(YARS1):c.973C>T (p.Arg325Trp)
NM_003680.4(YARS1):c.978A>C (p.Glu326Asp) rs1423244532
NM_003680.4(YARS1):c.986A>G (p.Asn329Ser)
NM_003680.4(YARS1):c.992C>G (p.Pro331Arg)

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