ClinVar Miner

List of variants in gene LIMS2 reported as uncertain significance for Autosomal recessive limb-girdle muscular dystrophy type 2W

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Gene type:
ClinVar version:
Total variants: 165
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HGVS dbSNP gnomAD frequency
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.752A>G (p.Gln251Arg) rs146422285 0.00031
NM_001161403.3(LIMS2):c.233C>A (p.Ser78Tyr) rs181892289 0.00028
NM_001161403.3(LIMS2):c.971C>T (p.Ser324Leu) rs377574169 0.00024
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.278A>G (p.Asn93Ser) rs373800371 0.00013
NM_001161403.3(LIMS2):c.445G>A (p.Glu149Lys) rs148943578 0.00011
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.143G>A (p.Arg48Gln) rs200231493 0.00008
NM_001161403.3(LIMS2):c.301C>T (p.Arg101Cys) rs201636855 0.00008
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.221C>T (p.Pro74Leu) rs201167843 0.00005
NM_001161403.3(LIMS2):c.289C>T (p.Pro97Ser) rs368536679 0.00005
NM_001161403.3(LIMS2):c.329C>T (p.Ala110Val) rs947667453 0.00005
NM_001161403.3(LIMS2):c.40G>A (p.Val14Met) rs200688714 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.20C>T (p.Ser7Leu) rs369093987 0.00004
NM_001161403.3(LIMS2):c.290C>T (p.Pro97Leu) rs768056213 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.49C>T (p.Arg17Cys) rs760929162 0.00004
NM_001161403.3(LIMS2):c.622C>T (p.Arg208Ter) rs146150045 0.00004
NM_001161403.3(LIMS2):c.11+1305G>A rs991541495 0.00003
NM_001161403.3(LIMS2):c.155A>G (p.Glu52Gly) rs775140186 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.331G>C (p.Asp111His) rs371008915 0.00003
NM_001161403.3(LIMS2):c.433C>G (p.Leu145Val) rs746614706 0.00003
NM_001161403.3(LIMS2):c.442G>A (p.Asp148Asn) rs756568588 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.577A>G (p.Met193Val) rs1469506308 0.00003
NM_001161403.3(LIMS2):c.583G>A (p.Val195Ile) rs560750824 0.00003
NM_001161403.3(LIMS2):c.608G>A (p.Arg203Gln) rs779326413 0.00003
NM_001161403.3(LIMS2):c.628G>A (p.Val210Ile) rs575987494 0.00003
NM_001161403.3(LIMS2):c.655G>A (p.Val219Met) rs774530383 0.00003
NM_001161403.3(LIMS2):c.754-2A>G rs186779887 0.00003
NM_001161403.3(LIMS2):c.985C>T (p.Arg329Cys) rs528266998 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.237C>T (p.Cys79=) rs531118175 0.00002
NM_001161403.3(LIMS2):c.257G>A (p.Arg86His) rs749119945 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.461T>G (p.Phe154Cys) rs781141969 0.00002
NM_001161403.3(LIMS2):c.516G>T (p.Glu172Asp) rs1377141952 0.00002
NM_001161403.3(LIMS2):c.526G>A (p.Glu176Lys) rs759040020 0.00002
NM_001161403.3(LIMS2):c.634G>A (p.Ala212Thr) rs762554883 0.00002
NM_001161403.3(LIMS2):c.68C>T (p.Ser23Phe) rs138668344 0.00002
NM_001161403.3(LIMS2):c.79C>T (p.Arg27Cys) rs375142763 0.00002
NM_001161403.3(LIMS2):c.107A>G (p.Tyr36Cys) rs577806985 0.00001
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.158G>A (p.Gly53Glu) rs777720312 0.00001
NM_001161403.3(LIMS2):c.167A>G (p.Tyr56Cys) rs752811662 0.00001
NM_001161403.3(LIMS2):c.182G>A (p.Arg61Gln) rs770469332 0.00001
NM_001161403.3(LIMS2):c.199G>A (p.Asp67Asn) rs1017450419 0.00001
NM_001161403.3(LIMS2):c.238G>A (p.Gly80Ser) rs753710553 0.00001
NM_001161403.3(LIMS2):c.319G>A (p.Val107Met) rs754915607 0.00001
NM_001161403.3(LIMS2):c.431A>G (p.His144Arg) rs780102756 0.00001
NM_001161403.3(LIMS2):c.457A>G (p.Met153Val) rs373569274 0.00001
NM_001161403.3(LIMS2):c.497G>A (p.Cys166Tyr) rs1363997136 0.00001
NM_001161403.3(LIMS2):c.50G>A (p.Arg17His) rs775450533 0.00001
NM_001161403.3(LIMS2):c.539T>C (p.Leu180Pro) rs1682491108 0.00001
NM_001161403.3(LIMS2):c.566G>A (p.Cys189Tyr) rs1409793017 0.00001
NM_001161403.3(LIMS2):c.61C>T (p.Arg21Cys) rs745803442 0.00001
NM_001161403.3(LIMS2):c.623G>A (p.Arg208Gln) rs767489473 0.00001
NM_001161403.3(LIMS2):c.661C>T (p.His221Tyr) rs1490885244 0.00001
NM_001161403.3(LIMS2):c.666T>G (p.Phe222Leu) rs773297178 0.00001
NM_001161403.3(LIMS2):c.704G>A (p.Arg235Gln) rs771996062 0.00001
NM_001161403.3(LIMS2):c.736G>A (p.Glu246Lys) rs1312559544 0.00001
NM_001161403.3(LIMS2):c.799G>A (p.Asp267Asn) rs565167425 0.00001
NM_001161403.3(LIMS2):c.809C>T (p.Ser270Leu) rs778245789 0.00001
NM_001161403.3(LIMS2):c.89A>G (p.Asn30Ser) rs753914287 0.00001
NM_001161403.3(LIMS2):c.928G>A (p.Glu310Lys) rs752151256 0.00001
NM_001161403.3(LIMS2):c.955C>T (p.Arg319Trp) rs765582704 0.00001
NM_001161403.3(LIMS2):c.964A>T (p.Lys322Ter) rs775673470 0.00001
NM_001161403.3(LIMS2):c.982T>C (p.Ser328Pro) rs1256864864 0.00001
NM_001161403.3(LIMS2):c.994C>G (p.Gln332Glu) rs1340547227 0.00001
NC_000002.12:g.(?_127654414)_(127657572_?)del
NM_001161403.3(LIMS2):c.1025_*22del (p.Ter342Xaa) rs2468798857
NM_001161403.3(LIMS2):c.11+1287G>T rs779917750
NM_001161403.3(LIMS2):c.11+1291C>G rs2469076881
NM_001161403.3(LIMS2):c.11+1305G>T rs991541495
NM_001161403.3(LIMS2):c.11+1332_11+1333dup rs140836565
NM_001161403.3(LIMS2):c.110A>G (p.His37Arg)
NM_001161403.3(LIMS2):c.116_119dup (p.Cys40Ter) rs2468994448
NM_001161403.3(LIMS2):c.130G>A (p.Ala44Thr) rs1296516266
NM_001161403.3(LIMS2):c.161T>C (p.Leu54Pro) rs1476186407
NM_001161403.3(LIMS2):c.17T>C (p.Met6Thr) rs2105304195
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.238+1G>A rs1416116174
NM_001161403.3(LIMS2):c.238+4A>G rs1358031819
NM_001161403.3(LIMS2):c.246C>A (p.Phe82Leu) rs2468975402
NM_001161403.3(LIMS2):c.246CAT[1] (p.Ile84del) rs1396055005
NM_001161403.3(LIMS2):c.24C>A (p.Asp8Glu) rs755783718
NM_001161403.3(LIMS2):c.25G>A (p.Ala9Thr)
NM_001161403.3(LIMS2):c.271A>G (p.Met91Val) rs1684111422
NM_001161403.3(LIMS2):c.302G>A (p.Arg101His)
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.378C>G (p.Cys126Trp) rs1226628972
NM_001161403.3(LIMS2):c.385C>G (p.Arg129Gly) rs145123078
NM_001161403.3(LIMS2):c.386G>A (p.Arg129His) rs770698050
NM_001161403.3(LIMS2):c.386G>T (p.Arg129Leu) rs770698050
NM_001161403.3(LIMS2):c.454C>T (p.Leu152Phe) rs1573757070
NM_001161403.3(LIMS2):c.458T>C (p.Met153Thr) rs2468846814
NM_001161403.3(LIMS2):c.471C>G (p.Asp157Glu) rs761802077
NM_001161403.3(LIMS2):c.496T>C (p.Cys166Arg) rs2468846159
NM_001161403.3(LIMS2):c.509+3A>G rs746495081
NM_001161403.3(LIMS2):c.517C>G (p.Leu173Val) rs1200220600
NM_001161403.3(LIMS2):c.532C>T (p.Arg178Cys)
NM_001161403.3(LIMS2):c.533G>T (p.Arg178Leu)
NM_001161403.3(LIMS2):c.584T>C (p.Val195Ala) rs774061121
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) rs747408703
NM_001161403.3(LIMS2):c.5C>G (p.Thr2Arg) rs1573855115
NM_001161403.3(LIMS2):c.602G>A (p.Cys201Tyr) rs112682507
NM_001161403.3(LIMS2):c.61C>A (p.Arg21Ser) rs745803442
NM_001161403.3(LIMS2):c.626T>C (p.Val209Ala)
NM_001161403.3(LIMS2):c.635C>A (p.Ala212Glu) rs138275119
NM_001161403.3(LIMS2):c.661-2A>C rs766965539
NM_001161403.3(LIMS2):c.665_666del (p.Phe222fs) rs750940675
NM_001161403.3(LIMS2):c.669_672del (p.Cys224fs) rs746910960
NM_001161403.3(LIMS2):c.6G>A (p.Thr2=) rs1685444261
NM_001161403.3(LIMS2):c.703C>T (p.Arg235Trp) rs140508168
NM_001161403.3(LIMS2):c.713A>C (p.Glu238Ala) rs1682344033
NM_001161403.3(LIMS2):c.718A>G (p.Lys240Glu)
NM_001161403.3(LIMS2):c.733T>G (p.Cys245Gly)
NM_001161403.3(LIMS2):c.73G>A (p.Ala25Thr) rs201527546
NM_001161403.3(LIMS2):c.754-9G>A
NM_001161403.3(LIMS2):c.760G>A (p.Gly254Arg) rs184319967
NM_001161403.3(LIMS2):c.764A>C (p.Asp255Ala) rs1682280712
NM_001161403.3(LIMS2):c.802G>T (p.Val268Leu) rs1682276394
NM_001161403.3(LIMS2):c.803-3C>T rs1203723192
NM_001161403.3(LIMS2):c.833T>A (p.Val278Glu) rs1382282117
NM_001161403.3(LIMS2):c.878+5G>C rs2468810359
NM_001161403.3(LIMS2):c.879-1G>A rs1682170683
NM_001161403.3(LIMS2):c.882C>G (p.Asn294Lys) rs149101001
NM_001161403.3(LIMS2):c.882_884del (p.Asn294del) rs1558864889
NM_001161403.3(LIMS2):c.884A>G (p.Lys295Arg) rs1402962493
NM_001161403.3(LIMS2):c.898G>A (p.Asp300Asn) rs1169262058
NM_001161403.3(LIMS2):c.898G>C (p.Asp300His) rs1169262058
NM_001161403.3(LIMS2):c.91A>G (p.Ser31Gly) rs995913660
NM_001161403.3(LIMS2):c.927C>G (p.Tyr309Ter) rs368451336
NM_001161403.3(LIMS2):c.92G>A (p.Ser31Asn)
NM_001161403.3(LIMS2):c.940C>A (p.Leu314Met) rs1682159709
NM_001161403.3(LIMS2):c.958_969dup (p.Leu320_Leu323dup) rs752066748
NM_001161403.3(LIMS2):c.960_961insT (p.Lys321Ter) rs2468800278
NM_001161403.3(LIMS2):c.985del (p.Arg329fs) rs2468799667
NM_001161403.3(LIMS2):c.986G>A (p.Arg329His)

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