ClinVar Miner

List of variants in gene YARS1 studied for Charcot-Marie-Tooth disease

Included ClinVar conditions (137):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 132
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HGVS dbSNP
NC_000001.11:g.(?_32775971)_(32797853_?)dup
NC_000001.11:g.(?_32810581)_(32811067_?)del
NC_000001.11:g.(?_32810591)_(32811057_?)del
NM_003680.3(YARS1):c.*138G>A rs41265857
NM_003680.3(YARS1):c.*21C>A rs149812692
NM_003680.3(YARS1):c.*284A>G rs150690731
NM_003680.3(YARS1):c.*293A>G rs16866009
NM_003680.3(YARS1):c.*369G>A rs879511403
NM_003680.3(YARS1):c.*386G>T rs144131403
NM_003680.3(YARS1):c.*399G>A rs890588915
NM_003680.3(YARS1):c.*439T>C rs184249741
NM_003680.3(YARS1):c.*539A>G rs550239801
NM_003680.3(YARS1):c.*599A>C rs542816112
NM_003680.3(YARS1):c.*680A>G rs536402126
NM_003680.3(YARS1):c.*681T>G rs78319035
NM_003680.3(YARS1):c.*724T>C rs950577466
NM_003680.3(YARS1):c.1008G>A (p.Leu336=) rs140232925
NM_003680.3(YARS1):c.1012A>G (p.Ser338Gly) rs763921769
NM_003680.3(YARS1):c.1014C>G (p.Ser338Arg)
NM_003680.3(YARS1):c.1015G>A (p.Ala339Thr) rs141323599
NM_003680.3(YARS1):c.1042+3A>C rs772446297
NM_003680.3(YARS1):c.1048A>G (p.Met350Val) rs1553122785
NM_003680.3(YARS1):c.1049T>C (p.Met350Thr) rs1490757097
NM_003680.3(YARS1):c.1079C>A (p.Pro360Gln) rs562054969
NM_003680.3(YARS1):c.1080A>G (p.Pro360=) rs752514117
NM_003680.3(YARS1):c.1082A>T (p.Glu361Val) rs61737106
NM_003680.3(YARS1):c.1094del (p.Pro365fs) rs1413975578
NM_003680.3(YARS1):c.1099C>T (p.Arg367Trp) rs376054085
NM_003680.3(YARS1):c.1100G>A (p.Arg367Gln) rs762473756
NM_003680.3(YARS1):c.1117G>A (p.Gly373Arg) rs764584188
NM_003680.3(YARS1):c.112del (p.Ile38fs)
NM_003680.3(YARS1):c.1138A>C (p.Lys380Gln) rs1405248711
NM_003680.3(YARS1):c.1141-9C>G rs761211081
NM_003680.3(YARS1):c.1175T>C (p.Ile392Thr) rs749411607
NM_003680.3(YARS1):c.1179C>T (p.Asp393=) rs373909518
NM_003680.3(YARS1):c.1180G>A (p.Val394Met) rs863224717
NM_003680.3(YARS1):c.1198C>T (p.Arg400Trp) rs1179946635
NM_003680.3(YARS1):c.1218G>C (p.Leu406=) rs699005
NM_003680.3(YARS1):c.121G>A (p.Gly41Arg) rs121908833
NM_003680.3(YARS1):c.1227C>A (p.Phe409Leu)
NM_003680.3(YARS1):c.1228G>A (p.Val410Met) rs146393022
NM_003680.3(YARS1):c.122G>A (p.Gly41Glu) rs1569778143
NM_003680.3(YARS1):c.1246C>A (p.Gln416Lys) rs76611863
NM_003680.3(YARS1):c.1275C>T (p.Asn425=) rs778718842
NM_003680.3(YARS1):c.1281dup (p.Pro428fs)
NM_003680.3(YARS1):c.1291A>T (p.Met431Leu) rs149620809
NM_003680.3(YARS1):c.1348C>T (p.Arg450Cys) rs141955005
NM_003680.3(YARS1):c.1349G>A (p.Arg450His)
NM_003680.3(YARS1):c.1349G>C (p.Arg450Pro) rs147005844
NM_003680.3(YARS1):c.135G>A (p.Thr45=)
NM_003680.3(YARS1):c.1374G>A (p.Pro458=) rs151227410
NM_003680.3(YARS1):c.1405del (p.Phe468_Val469insTer) rs777156625
NM_003680.3(YARS1):c.1418A>G (p.Glu473Gly)
NM_003680.3(YARS1):c.1435G>A (p.Glu479Lys)
NM_003680.3(YARS1):c.1476+2T>C rs1553122620
NM_003680.3(YARS1):c.1486A>G (p.Lys496Glu) rs200375230
NM_003680.3(YARS1):c.1487A>C (p.Lys496Thr)
NM_003680.3(YARS1):c.1487A>G (p.Lys496Arg) rs768160751
NM_003680.3(YARS1):c.1507G>A (p.Ala503Thr) rs778099655
NM_003680.3(YARS1):c.1507G>T (p.Ala503Ser) rs778099655
NM_003680.3(YARS1):c.1514G>A (p.Trp505Ter) rs1553122276
NM_003680.3(YARS1):c.1531A>G (p.Met511Val) rs1569696187
NM_003680.3(YARS1):c.1549A>G (p.Ile517Val) rs371220818
NM_003680.3(YARS1):c.1570G>C (p.Gly524Arg)
NM_003680.3(YARS1):c.1571G>C (p.Gly524Ala) rs201687117
NM_003680.3(YARS1):c.1574G>A (p.Gly525Glu)
NM_003680.3(YARS1):c.166A>G (p.Met56Val)
NM_003680.3(YARS1):c.176T>C (p.Ile59Thr) rs774466323
NM_003680.3(YARS1):c.177T>G (p.Ile59Met)
NM_003680.3(YARS1):c.178G>A (p.Ala60Thr) rs367649729
NM_003680.3(YARS1):c.181G>A (p.Asp61Asn) rs776582429
NM_003680.3(YARS1):c.205-2A>G rs538137948
NM_003680.3(YARS1):c.209C>G (p.Thr70Arg) rs771657997
NM_003680.3(YARS1):c.209C>T (p.Thr70Ile)
NM_003680.3(YARS1):c.211A>G (p.Ile71Val) rs145768628
NM_003680.3(YARS1):c.221C>T (p.Ala74Val) rs1429267110
NM_003680.3(YARS1):c.232G>A (p.Ala78Thr)
NM_003680.3(YARS1):c.241_242delinsAT (p.Asp81Ile) rs786204003
NM_003680.3(YARS1):c.260G>A (p.Trp87Ter) rs776952611
NM_003680.3(YARS1):c.277C>T (p.Arg93Ter)
NM_003680.3(YARS1):c.294G>C (p.Glu98Asp)
NM_003680.3(YARS1):c.298G>A (p.Val100Met) rs766704849
NM_003680.3(YARS1):c.322A>G (p.Ile108Val)
NM_003680.3(YARS1):c.347A>T (p.Lys116Met)
NM_003680.3(YARS1):c.362C>G (p.Thr121Ser)
NM_003680.3(YARS1):c.380+4A>G
NM_003680.3(YARS1):c.381-6C>T rs376982377
NM_003680.3(YARS1):c.391C>T (p.Leu131=) rs759430430
NM_003680.3(YARS1):c.415G>A (p.Val139Met) rs772729857
NM_003680.3(YARS1):c.424C>A (p.Gln142Lys)
NM_003680.3(YARS1):c.425A>G (p.Gln142Arg)
NM_003680.3(YARS1):c.440A>C (p.Lys147Thr) rs769290451
NM_003680.3(YARS1):c.458_469del (p.Val153_Val156del) rs786200893
NM_003680.3(YARS1):c.466G>T (p.Val156Leu)
NM_003680.3(YARS1):c.471G>A (p.Glu157=) rs1569769936
NM_003680.3(YARS1):c.483G>C (p.Leu161=) rs780528629
NM_003680.3(YARS1):c.499C>A (p.Pro167Thr) rs1279417718
NM_003680.3(YARS1):c.502G>A (p.Gly168Arg) rs1473184666
NM_003680.3(YARS1):c.507G>A (p.Leu169=) rs200278380
NM_003680.3(YARS1):c.510+10G>C rs201272488
NM_003680.3(YARS1):c.511-10C>T rs376935793
NM_003680.3(YARS1):c.511-14G>A rs1057515513
NM_003680.3(YARS1):c.523G>T (p.Glu175Ter) rs1553124472
NM_003680.3(YARS1):c.542C>A (p.Ala181Asp) rs1191925938
NM_003680.3(YARS1):c.546A>G (p.Gln182=) rs751440666
NM_003680.3(YARS1):c.557T>C (p.Ile186Thr) rs766166915
NM_003680.3(YARS1):c.569A>G (p.Lys190Arg) rs750198437
NM_003680.3(YARS1):c.579C>T (p.Thr193=)
NM_003680.3(YARS1):c.586G>A (p.Glu196Lys) rs121908834
NM_003680.3(YARS1):c.586G>C (p.Glu196Gln) rs121908834
NM_003680.3(YARS1):c.60G>A (p.Glu20=) rs143712443
NM_003680.3(YARS1):c.619C>T (p.Arg207Trp)
NM_003680.3(YARS1):c.631A>T (p.Met211Leu)
NM_003680.3(YARS1):c.681A>G (p.Glu227=) rs370095798
NM_003680.3(YARS1):c.684+3A>G rs375332060
NM_003680.3(YARS1):c.685-11A>G rs751943571
NM_003680.3(YARS1):c.695T>G (p.Ile232Ser) rs1553123310
NM_003680.3(YARS1):c.739_740delinsGC (p.Lys247Ala) rs1553123307
NM_003680.3(YARS1):c.746T>G (p.Phe249Cys) rs1009349245
NM_003680.3(YARS1):c.763G>A (p.Val255Met)
NM_003680.3(YARS1):c.795G>C (p.Lys265Asn) rs141482636
NM_003680.3(YARS1):c.799G>C (p.Val267Leu)
NM_003680.3(YARS1):c.819C>T (p.Ser273=)
NM_003680.3(YARS1):c.821-3T>C rs757673905
NM_003680.3(YARS1):c.827T>A (p.Val276Glu)
NM_003680.3(YARS1):c.874T>G (p.Tyr292Asp) rs753211165
NM_003680.3(YARS1):c.877G>A (p.Val293Met)
NM_003680.3(YARS1):c.880G>A (p.Asp294Asn) rs779432834
NM_003680.3(YARS1):c.899C>T (p.Ala300Val)
NM_003680.3(YARS1):c.937G>A (p.Val313Ile)
NM_003680.3(YARS1):c.946G>A (p.Ala316Thr) rs138454151
NM_003680.3:c.1373C>T

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