ClinVar Miner

List of variants in gene LIMS2 studied for hereditary skeletal muscle disorder

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 293
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HGVS dbSNP gnomAD frequency
NM_001161403.3(LIMS2):c.399G>A (p.Lys133=) rs4662751 0.52377
NM_001161403.3(LIMS2):c.189C>T (p.Tyr63=) rs35765118 0.02278
NM_001161403.3(LIMS2):c.803-14C>T rs115873946 0.02177
NM_001161403.3(LIMS2):c.803-8C>G rs115961120 0.01430
NM_001161403.3(LIMS2):c.385C>T (p.Arg129Cys) rs145123078 0.00587
NM_001161403.3(LIMS2):c.291G>A (p.Pro97=) rs11900522 0.00522
NM_001161403.3(LIMS2):c.594C>T (p.Cys198=) rs74638847 0.00282
NM_001161403.3(LIMS2):c.39C>T (p.Ala13=) rs143117627 0.00187
NM_001161403.3(LIMS2):c.802+19T>C rs201305372 0.00147
NM_001161403.3(LIMS2):c.661-16C>T rs192426117 0.00121
NM_001161403.3(LIMS2):c.36C>T (p.Asn12=) rs150714487 0.00067
NM_001161403.3(LIMS2):c.12-6748A>G rs968524490 0.00041
NM_001161403.3(LIMS2):c.882C>A (p.Asn294Lys) rs149101001 0.00038
NM_001161403.3(LIMS2):c.12-6739G>A rs763417527 0.00034
NM_001161403.3(LIMS2):c.153C>T (p.Pro51=) rs144872986 0.00034
NM_001161403.3(LIMS2):c.621C>T (p.Gly207=) rs138162790 0.00034
NM_001161403.3(LIMS2):c.11+1328G>A rs368890874 0.00031
NM_001161403.3(LIMS2):c.752A>G (p.Gln251Arg) rs146422285 0.00031
NM_001161403.3(LIMS2):c.233C>A (p.Ser78Tyr) rs181892289 0.00024
NM_001161403.3(LIMS2):c.971C>T (p.Ser324Leu) rs377574169 0.00024
NM_001161403.3(LIMS2):c.11+1326T>C rs371665020 0.00021
NM_001161403.3(LIMS2):c.605G>A (p.Arg202His) rs148420126 0.00021
NM_001161403.3(LIMS2):c.619G>A (p.Gly207Ser) rs141505120 0.00018
NM_001161403.3(LIMS2):c.11+1274A>G rs746982868 0.00014
NM_001161403.3(LIMS2):c.765C>T (p.Asp255=) rs199994172 0.00014
NM_001161403.3(LIMS2):c.95A>G (p.Asn32Ser) rs764187109 0.00014
NM_001161403.3(LIMS2):c.278A>G (p.Asn93Ser) rs373800371 0.00013
NM_001161403.3(LIMS2):c.445G>A (p.Glu149Lys) rs148943578 0.00013
NM_001161403.3(LIMS2):c.359+11C>T rs140921135 0.00010
NM_001161403.3(LIMS2):c.533G>A (p.Arg178His) rs144584729 0.00010
NM_001161403.3(LIMS2):c.12-6769C>G rs924276736 0.00009
NM_001161403.3(LIMS2):c.635C>T (p.Ala212Val) rs138275119 0.00009
NM_001161403.3(LIMS2):c.661-15C>T rs574749512 0.00009
NM_001161403.3(LIMS2):c.759C>T (p.Phe253=) rs370106270 0.00009
NM_001161403.3(LIMS2):c.11+1304C>T rs909176511 0.00008
NM_001161403.3(LIMS2):c.753+8C>T rs201334941 0.00008
NM_001161403.3(LIMS2):c.12-6755G>A rs529824211 0.00007
NM_001161403.3(LIMS2):c.145C>A (p.Pro49Thr) rs202166665 0.00006
NM_001161403.3(LIMS2):c.256C>T (p.Arg86Cys) rs757640443 0.00006
NM_001161403.3(LIMS2):c.154G>A (p.Glu52Lys) rs374235568 0.00005
NM_001161403.3(LIMS2):c.192C>T (p.Cys64=) rs142079668 0.00005
NM_001161403.3(LIMS2):c.289C>T (p.Pro97Ser) rs368536679 0.00005
NM_001161403.3(LIMS2):c.301C>T (p.Arg101Cys) rs201636855 0.00005
NM_001161403.3(LIMS2):c.582C>T (p.Gly194=) rs766876564 0.00005
NM_001161403.3(LIMS2):c.616G>A (p.Glu206Lys) rs368003558 0.00005
NM_001161403.3(LIMS2):c.793G>A (p.Glu265Lys) rs199761833 0.00005
NM_001161403.3(LIMS2):c.121T>C (p.Phe41Leu) rs372067171 0.00004
NM_001161403.3(LIMS2):c.198C>T (p.His66=) rs371757451 0.00004
NM_001161403.3(LIMS2):c.20C>T (p.Ser7Leu) rs369093987 0.00004
NM_001161403.3(LIMS2):c.290C>T (p.Pro97Leu) rs768056213 0.00004
NM_001161403.3(LIMS2):c.331G>C (p.Asp111His) rs371008915 0.00004
NM_001161403.3(LIMS2):c.370C>T (p.Arg124Trp) rs369430789 0.00004
NM_001161403.3(LIMS2):c.424C>T (p.Arg142Trp) rs780800196 0.00004
NM_001161403.3(LIMS2):c.468C>T (p.Ser156=) rs772862811 0.00004
NM_001161403.3(LIMS2):c.49C>T (p.Arg17Cys) rs760929162 0.00004
NM_001161403.3(LIMS2):c.510-13C>T rs368236220 0.00004
NM_001161403.3(LIMS2):c.622C>T (p.Arg208Ter) rs146150045 0.00004
NM_001161403.3(LIMS2):c.636G>A (p.Ala212=) rs539730681 0.00004
NM_001161403.3(LIMS2):c.11+1305G>A rs991541495 0.00003
NM_001161403.3(LIMS2):c.181C>T (p.Arg61Trp) rs975509585 0.00003
NM_001161403.3(LIMS2):c.276C>G (p.Asn92Lys) rs754385302 0.00003
NM_001161403.3(LIMS2):c.281A>G (p.Asn94Ser) rs766178392 0.00003
NM_001161403.3(LIMS2):c.354C>T (p.Ala118=) rs201972427 0.00003
NM_001161403.3(LIMS2):c.433C>G (p.Leu145Val) rs746614706 0.00003
NM_001161403.3(LIMS2):c.509+3A>T rs746495081 0.00003
NM_001161403.3(LIMS2):c.535G>A (p.Glu179Lys) rs144449664 0.00003
NM_001161403.3(LIMS2):c.628G>A (p.Val210Ile) rs575987494 0.00003
NM_001161403.3(LIMS2):c.754-10C>T rs377539811 0.00003
NM_001161403.3(LIMS2):c.897C>T (p.Phe299=) rs375582487 0.00003
NM_001161403.3(LIMS2):c.108C>A (p.Tyr36Ter) rs752899664 0.00002
NM_001161403.3(LIMS2):c.12-6783G>A rs975497154 0.00002
NM_001161403.3(LIMS2):c.171+14dup rs1272057458 0.00002
NM_001161403.3(LIMS2):c.238+9G>A rs767238091 0.00002
NM_001161403.3(LIMS2):c.259G>A (p.Val87Ile) rs756099594 0.00002
NM_001161403.3(LIMS2):c.371G>A (p.Arg124Gln) rs767752155 0.00002
NM_001161403.3(LIMS2):c.425G>A (p.Arg142Gln) rs768454144 0.00002
NM_001161403.3(LIMS2):c.509+15C>T rs749682980 0.00002
NM_001161403.3(LIMS2):c.509+8C>T rs775246782 0.00002
NM_001161403.3(LIMS2):c.510-12G>A rs374991949 0.00002
NM_001161403.3(LIMS2):c.516G>T (p.Glu172Asp) rs1377141952 0.00002
NM_001161403.3(LIMS2):c.79C>T (p.Arg27Cys) rs375142763 0.00002
NM_001161403.3(LIMS2):c.802+7C>A rs748150053 0.00002
NM_001161403.3(LIMS2):c.939G>A (p.Pro313=) rs773583305 0.00002
NM_001161403.3(LIMS2):c.11+1282G>C rs1419776330 0.00001
NM_001161403.3(LIMS2):c.11+1330G>A rs113414022 0.00001
NM_001161403.3(LIMS2):c.114G>C (p.Glu38Asp) rs374132948 0.00001
NM_001161403.3(LIMS2):c.14A>G (p.Asn5Ser) rs772186673 0.00001
NM_001161403.3(LIMS2):c.167A>G (p.Tyr56Cys) rs752811662 0.00001
NM_001161403.3(LIMS2):c.199G>A (p.Asp67Asn) rs1017450419 0.00001
NM_001161403.3(LIMS2):c.237C>T (p.Cys79=) rs531118175 0.00001
NM_001161403.3(LIMS2):c.238G>A (p.Gly80Ser) rs753710553 0.00001
NM_001161403.3(LIMS2):c.24C>T (p.Asp8=) rs755783718 0.00001
NM_001161403.3(LIMS2):c.325C>T (p.Leu109=) rs200845999 0.00001
NM_001161403.3(LIMS2):c.359+14G>A rs773360906 0.00001
NM_001161403.3(LIMS2):c.431A>G (p.His144Arg) rs780102756 0.00001
NM_001161403.3(LIMS2):c.471C>T (p.Asp157=) rs761802077 0.00001
NM_001161403.3(LIMS2):c.50G>A (p.Arg17His) rs775450533 0.00001
NM_001161403.3(LIMS2):c.517C>G (p.Leu173Val) rs1200220600 0.00001
NM_001161403.3(LIMS2):c.526G>A (p.Glu176Lys) rs759040020 0.00001
NM_001161403.3(LIMS2):c.61C>T (p.Arg21Cys) rs745803442 0.00001
NM_001161403.3(LIMS2):c.661-18C>T rs376092968 0.00001
NM_001161403.3(LIMS2):c.661C>T (p.His221Tyr) rs1490885244 0.00001
NM_001161403.3(LIMS2):c.753+9G>A rs200874584 0.00001
NM_001161403.3(LIMS2):c.754-13G>A rs752006518 0.00001
NM_001161403.3(LIMS2):c.75C>T (p.Ala25=) rs199821222 0.00001
NM_001161403.3(LIMS2):c.802+9_802+10del rs749417172 0.00001
NM_001161403.3(LIMS2):c.955C>T (p.Arg319Trp) rs765582704 0.00001
NC_000002.12:g.(?_127654414)_(127657572_?)del
NM_001161403.3(LIMS2):c.1020T>C (p.Ser340=)
NM_001161403.3(LIMS2):c.1025_*22del (p.Ter342Xaa)
NM_001161403.3(LIMS2):c.107A>G (p.Tyr36Cys)
NM_001161403.3(LIMS2):c.11+1267C>T
NM_001161403.3(LIMS2):c.11+1287G>T
NM_001161403.3(LIMS2):c.11+1291C>G
NM_001161403.3(LIMS2):c.11+12C>T
NM_001161403.3(LIMS2):c.11+1305G>T rs991541495
NM_001161403.3(LIMS2):c.11+1332_11+1333dup rs140836565
NM_001161403.3(LIMS2):c.11+1345G>A
NM_001161403.3(LIMS2):c.11+1349C>T
NM_001161403.3(LIMS2):c.11+1350G>A
NM_001161403.3(LIMS2):c.11+16C>A
NM_001161403.3(LIMS2):c.11+16C>T
NM_001161403.3(LIMS2):c.11+7G>T
NM_001161403.3(LIMS2):c.116_119dup (p.Cys40Ter)
NM_001161403.3(LIMS2):c.12-5C>T
NM_001161403.3(LIMS2):c.130G>A (p.Ala44Thr) rs1296516266
NM_001161403.3(LIMS2):c.143G>A (p.Arg48Gln)
NM_001161403.3(LIMS2):c.155A>G (p.Glu52Gly)
NM_001161403.3(LIMS2):c.158G>A (p.Gly53Glu)
NM_001161403.3(LIMS2):c.159G>C (p.Gly53=)
NM_001161403.3(LIMS2):c.161T>C (p.Leu54Pro) rs1476186407
NM_001161403.3(LIMS2):c.171+17G>A
NM_001161403.3(LIMS2):c.171+9_171+13del
NM_001161403.3(LIMS2):c.172-11C>A
NM_001161403.3(LIMS2):c.172-11C>T
NM_001161403.3(LIMS2):c.172-13G>T
NM_001161403.3(LIMS2):c.172-5T>G
NM_001161403.3(LIMS2):c.172-9C>T
NM_001161403.3(LIMS2):c.17T>C (p.Met6Thr) rs2105304195
NM_001161403.3(LIMS2):c.182G>A (p.Arg61Gln)
NM_001161403.3(LIMS2):c.189C>G (p.Tyr63Ter) rs35765118
NM_001161403.3(LIMS2):c.190T>C (p.Cys64Arg) rs1684148003
NM_001161403.3(LIMS2):c.221C>T (p.Pro74Leu)
NM_001161403.3(LIMS2):c.222G>A (p.Pro74=)
NM_001161403.3(LIMS2):c.238+15A>G
NM_001161403.3(LIMS2):c.238+1G>A
NM_001161403.3(LIMS2):c.238+1G>T
NM_001161403.3(LIMS2):c.238+4A>G
NM_001161403.3(LIMS2):c.238+8C>A
NM_001161403.3(LIMS2):c.238+8C>T
NM_001161403.3(LIMS2):c.239-10C>G
NM_001161403.3(LIMS2):c.239-10C>T
NM_001161403.3(LIMS2):c.239-14C>T
NM_001161403.3(LIMS2):c.239-18G>T
NM_001161403.3(LIMS2):c.243G>A (p.Glu81=)
NM_001161403.3(LIMS2):c.246C>A (p.Phe82Leu)
NM_001161403.3(LIMS2):c.246CAT[1] (p.Ile84del)
NM_001161403.3(LIMS2):c.249C>T (p.Ile83=) rs2105291996
NM_001161403.3(LIMS2):c.24C>A (p.Asp8Glu)
NM_001161403.3(LIMS2):c.257G>A (p.Arg86His)
NM_001161403.3(LIMS2):c.258C>T (p.Arg86=)
NM_001161403.3(LIMS2):c.25G>A (p.Ala9Thr)
NM_001161403.3(LIMS2):c.261C>T (p.Val87=)
NM_001161403.3(LIMS2):c.271A>G (p.Met91Val)
NM_001161403.3(LIMS2):c.288C>T (p.His96=)
NM_001161403.3(LIMS2):c.302G>A (p.Arg101His)
NM_001161403.3(LIMS2):c.319G>A (p.Val107Met)
NM_001161403.3(LIMS2):c.329C>T (p.Ala110Val)
NM_001161403.3(LIMS2):c.334C>G (p.Leu112Val) rs1684103396
NM_001161403.3(LIMS2):c.345GAA[1] (p.Lys116del) rs762526323
NM_001161403.3(LIMS2):c.359+12G>A
NM_001161403.3(LIMS2):c.360-11G>A
NM_001161403.3(LIMS2):c.360-12C>T
NM_001161403.3(LIMS2):c.360-4G>A rs112254310
NM_001161403.3(LIMS2):c.360-4G>T rs112254310
NM_001161403.3(LIMS2):c.360-5C>T
NM_001161403.3(LIMS2):c.378C>G (p.Cys126Trp) rs1226628972
NM_001161403.3(LIMS2):c.385C>G (p.Arg129Gly) rs145123078
NM_001161403.3(LIMS2):c.386G>A (p.Arg129His)
NM_001161403.3(LIMS2):c.386G>T (p.Arg129Leu)
NM_001161403.3(LIMS2):c.408C>A (p.Gly136=)
NM_001161403.3(LIMS2):c.40G>A (p.Val14Met)
NM_001161403.3(LIMS2):c.420C>T (p.Cys140=) rs2105208940
NM_001161403.3(LIMS2):c.430del (p.His144fs)
NM_001161403.3(LIMS2):c.441C>A (p.Ile147=) rs199563092
NM_001161403.3(LIMS2):c.442G>A (p.Asp148Asn)
NM_001161403.3(LIMS2):c.444C>T (p.Asp148=)
NM_001161403.3(LIMS2):c.454C>T (p.Leu152Phe) rs1573757070
NM_001161403.3(LIMS2):c.457A>G (p.Met153Val)
NM_001161403.3(LIMS2):c.458T>C (p.Met153Thr)
NM_001161403.3(LIMS2):c.461T>G (p.Phe154Cys)
NM_001161403.3(LIMS2):c.465G>A (p.Arg155=) rs563179688
NM_001161403.3(LIMS2):c.471C>G (p.Asp157Glu)
NM_001161403.3(LIMS2):c.495C>T (p.Asn165=)
NM_001161403.3(LIMS2):c.496T>C (p.Cys166Arg)
NM_001161403.3(LIMS2):c.497G>A (p.Cys166Tyr)
NM_001161403.3(LIMS2):c.509+12G>A
NM_001161403.3(LIMS2):c.509+3A>G rs746495081
NM_001161403.3(LIMS2):c.510-11C>T
NM_001161403.3(LIMS2):c.510-19G>A
NM_001161403.3(LIMS2):c.525C>T (p.Ala175=) rs532651765
NM_001161403.3(LIMS2):c.528G>A (p.Glu176=)
NM_001161403.3(LIMS2):c.532C>T (p.Arg178Cys)
NM_001161403.3(LIMS2):c.533G>T (p.Arg178Leu)
NM_001161403.3(LIMS2):c.534C>A (p.Arg178=)
NM_001161403.3(LIMS2):c.534C>T (p.Arg178=)
NM_001161403.3(LIMS2):c.539T>C (p.Leu180Pro) rs1682491108
NM_001161403.3(LIMS2):c.566G>A (p.Cys189Tyr)
NM_001161403.3(LIMS2):c.577A>G (p.Met193Val) rs1469506308
NM_001161403.3(LIMS2):c.583G>A (p.Val195Ile)
NM_001161403.3(LIMS2):c.584T>C (p.Val195Ala)
NM_001161403.3(LIMS2):c.589A>T (p.Ile197Phe) rs1558868736
NM_001161403.3(LIMS2):c.595G>A (p.Gly199Arg)
NM_001161403.3(LIMS2):c.595G>C (p.Gly199Arg)
NM_001161403.3(LIMS2):c.5C>G (p.Thr2Arg)
NM_001161403.3(LIMS2):c.602G>A (p.Cys201Tyr) rs112682507
NM_001161403.3(LIMS2):c.608G>A (p.Arg203Gln) rs779326413
NM_001161403.3(LIMS2):c.61C>A (p.Arg21Ser)
NM_001161403.3(LIMS2):c.623G>A (p.Arg208Gln)
NM_001161403.3(LIMS2):c.626T>C (p.Val209Ala)
NM_001161403.3(LIMS2):c.634G>A (p.Ala212Thr)
NM_001161403.3(LIMS2):c.635C>A (p.Ala212Glu) rs138275119
NM_001161403.3(LIMS2):c.639G>A (p.Leu213=)
NM_001161403.3(LIMS2):c.655G>A (p.Val219Met)
NM_001161403.3(LIMS2):c.661-17G>A
NM_001161403.3(LIMS2):c.661-19C>G
NM_001161403.3(LIMS2):c.661-2A>C rs766965539
NM_001161403.3(LIMS2):c.661-4G>C
NM_001161403.3(LIMS2):c.661-7C>T
NM_001161403.3(LIMS2):c.665_666del (p.Phe222fs) rs750940675
NM_001161403.3(LIMS2):c.666T>G (p.Phe222Leu)
NM_001161403.3(LIMS2):c.669_672del (p.Cys224fs) rs746910960
NM_001161403.3(LIMS2):c.687G>A (p.Lys229=)
NM_001161403.3(LIMS2):c.68C>T (p.Ser23Phe)
NM_001161403.3(LIMS2):c.6G>A (p.Thr2=) rs1685444261
NM_001161403.3(LIMS2):c.703C>T (p.Arg235Trp)
NM_001161403.3(LIMS2):c.704G>A (p.Arg235Gln)
NM_001161403.3(LIMS2):c.713A>C (p.Glu238Ala)
NM_001161403.3(LIMS2):c.718A>G (p.Lys240Glu)
NM_001161403.3(LIMS2):c.733T>G (p.Cys245Gly)
NM_001161403.3(LIMS2):c.735C>T (p.Cys245=)
NM_001161403.3(LIMS2):c.736G>A (p.Glu246Lys)
NM_001161403.3(LIMS2):c.73G>A (p.Ala25Thr) rs201527546
NM_001161403.3(LIMS2):c.754-10C>G rs377539811
NM_001161403.3(LIMS2):c.754-15C>A
NM_001161403.3(LIMS2):c.754-17G>A
NM_001161403.3(LIMS2):c.754-2A>G
NM_001161403.3(LIMS2):c.754-9G>A
NM_001161403.3(LIMS2):c.760G>A (p.Gly254Arg)
NM_001161403.3(LIMS2):c.762G>A (p.Gly254=)
NM_001161403.3(LIMS2):c.764A>C (p.Asp255Ala) rs1682280712
NM_001161403.3(LIMS2):c.799G>A (p.Asp267Asn)
NM_001161403.3(LIMS2):c.802+13G>A
NM_001161403.3(LIMS2):c.802+18C>T
NM_001161403.3(LIMS2):c.802+7C>G
NM_001161403.3(LIMS2):c.802G>T (p.Val268Leu) rs1682276394
NM_001161403.3(LIMS2):c.803-13G>A
NM_001161403.3(LIMS2):c.803-3C>T
NM_001161403.3(LIMS2):c.803-5C>T
NM_001161403.3(LIMS2):c.809C>T (p.Ser270Leu)
NM_001161403.3(LIMS2):c.810G>A (p.Ser270=) rs752693744
NM_001161403.3(LIMS2):c.833T>A (p.Val278Glu)
NM_001161403.3(LIMS2):c.878+17G>A
NM_001161403.3(LIMS2):c.878+5G>C
NM_001161403.3(LIMS2):c.879-1G>A rs1682170683
NM_001161403.3(LIMS2):c.879-8C>T rs760227021
NM_001161403.3(LIMS2):c.882C>G (p.Asn294Lys) rs149101001
NM_001161403.3(LIMS2):c.882_884del (p.Asn294del)
NM_001161403.3(LIMS2):c.884A>G (p.Lys295Arg)
NM_001161403.3(LIMS2):c.898G>A (p.Asp300Asn)
NM_001161403.3(LIMS2):c.898G>C (p.Asp300His)
NM_001161403.3(LIMS2):c.89A>G (p.Asn30Ser)
NM_001161403.3(LIMS2):c.900C>T (p.Asp300=) rs1553460868
NM_001161403.3(LIMS2):c.909C>T (p.Pro303=) rs374378217
NM_001161403.3(LIMS2):c.919A>C (p.Arg307=)
NM_001161403.3(LIMS2):c.91A>G (p.Ser31Gly)
NM_001161403.3(LIMS2):c.927C>G (p.Tyr309Ter) rs368451336
NM_001161403.3(LIMS2):c.927C>T (p.Tyr309=)
NM_001161403.3(LIMS2):c.928G>A (p.Glu310Lys)
NM_001161403.3(LIMS2):c.92G>A (p.Ser31Asn)
NM_001161403.3(LIMS2):c.940C>A (p.Leu314Met) rs1682159709
NM_001161403.3(LIMS2):c.946C>T (p.Leu316=)
NM_001161403.3(LIMS2):c.958_969dup (p.Leu320_Leu323dup) rs752066748
NM_001161403.3(LIMS2):c.960_961insT (p.Lys321Ter)
NM_001161403.3(LIMS2):c.964A>T (p.Lys322Ter)
NM_001161403.3(LIMS2):c.968T>C (p.Leu323Pro) rs869025562
NM_001161403.3(LIMS2):c.981C>A (p.Thr327=)
NM_001161403.3(LIMS2):c.982T>C (p.Ser328Pro)
NM_001161403.3(LIMS2):c.985C>T (p.Arg329Cys)
NM_001161403.3(LIMS2):c.985del (p.Arg329fs)
NM_001161403.3(LIMS2):c.986G>A (p.Arg329His)
NM_001161403.3(LIMS2):c.994C>G (p.Gln332Glu)
NM_001161404.1(LIMS2):c.[261C>G;275C>T]

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