ClinVar Miner

List of variants in gene LIMS2 reported as uncertain significance for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 150
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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 0.00024
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 0.00013
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.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.289C>T (p.Pro97Ser) rs368536679 0.00005
NM_001161403.3(LIMS2):c.301C>T (p.Arg101Cys) rs201636855 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.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.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.181C>T (p.Arg61Trp) rs975509585 0.00003
NM_001161403.3(LIMS2):c.281A>G (p.Asn94Ser) rs766178392 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.108C>A (p.Tyr36Ter) rs752899664 0.00002
NM_001161403.3(LIMS2):c.12-6783G>A rs975497154 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.516G>T (p.Glu172Asp) rs1377141952 0.00002
NM_001161403.3(LIMS2):c.79C>T (p.Arg27Cys) rs375142763 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.431A>G (p.His144Arg) rs780102756 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.661C>T (p.His221Tyr) rs1490885244 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.1025_*22del (p.Ter342Xaa)
NM_001161403.3(LIMS2):c.107A>G (p.Tyr36Cys)
NM_001161403.3(LIMS2):c.11+1287G>T
NM_001161403.3(LIMS2):c.11+1291C>G
NM_001161403.3(LIMS2):c.11+1305G>T rs991541495
NM_001161403.3(LIMS2):c.11+1332_11+1333dup rs140836565
NM_001161403.3(LIMS2):c.116_119dup (p.Cys40Ter)
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.161T>C (p.Leu54Pro) rs1476186407
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.238+15A>G
NM_001161403.3(LIMS2):c.238+1G>A
NM_001161403.3(LIMS2):c.238+4A>G
NM_001161403.3(LIMS2):c.246C>A (p.Phe82Leu)
NM_001161403.3(LIMS2):c.246CAT[1] (p.Ile84del)
NM_001161403.3(LIMS2):c.24C>A (p.Asp8Glu)
NM_001161403.3(LIMS2):c.271A>G (p.Met91Val)
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.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.40G>A (p.Val14Met)
NM_001161403.3(LIMS2):c.442G>A (p.Asp148Asn)
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.471C>G (p.Asp157Glu)
NM_001161403.3(LIMS2):c.496T>C (p.Cys166Arg)
NM_001161403.3(LIMS2):c.497G>A (p.Cys166Tyr)
NM_001161403.3(LIMS2):c.509+3A>G rs746495081
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>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.634G>A (p.Ala212Thr)
NM_001161403.3(LIMS2):c.635C>A (p.Ala212Glu) rs138275119
NM_001161403.3(LIMS2):c.655G>A (p.Val219Met)
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.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.736G>A (p.Glu246Lys)
NM_001161403.3(LIMS2):c.73G>A (p.Ala25Thr) rs201527546
NM_001161403.3(LIMS2):c.754-2A>G
NM_001161403.3(LIMS2):c.760G>A (p.Gly254Arg)
NM_001161403.3(LIMS2):c.764A>C (p.Asp255Ala) rs1682280712
NM_001161403.3(LIMS2):c.799G>A (p.Asp267Asn)
NM_001161403.3(LIMS2):c.802G>T (p.Val268Leu) rs1682276394
NM_001161403.3(LIMS2):c.803-3C>T
NM_001161403.3(LIMS2):c.809C>T (p.Ser270Leu)
NM_001161403.3(LIMS2):c.833T>A (p.Val278Glu)
NM_001161403.3(LIMS2):c.878+5G>C
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)
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.91A>G (p.Ser31Gly)
NM_001161403.3(LIMS2):c.927C>G (p.Tyr309Ter) rs368451336
NM_001161403.3(LIMS2):c.928G>A (p.Glu310Lys)
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)
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.994C>G (p.Gln332Glu)

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