ClinVar Miner

List of variants in gene LAMA2 reported as pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 444
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HGVS dbSNP gnomAD frequency
NM_000426.4(LAMA2):c.4048C>T (p.Arg1350Ter) rs756854513 0.00010
NM_000426.4(LAMA2):c.1300C>T (p.Arg434Ter) rs1374568851 0.00006
NM_000426.4(LAMA2):c.5260del (p.Lys1753_Val1754insTer) rs794727594 0.00006
NM_000426.4(LAMA2):c.7732C>T (p.Arg2578Ter) rs121913572 0.00004
NM_000426.4(LAMA2):c.3085C>T (p.Arg1029Ter) rs145420388 0.00003
NM_000426.4(LAMA2):c.3976C>T (p.Arg1326Ter) rs398123373 0.00003
NM_000426.4(LAMA2):c.5476C>T (p.Arg1826Ter) rs747349942 0.00003
NM_000426.4(LAMA2):c.939_940del (p.Cys314fs) rs1209130981 0.00003
NM_000426.4(LAMA2):c.250C>T (p.Arg84Ter) rs868019991 0.00002
NM_000426.4(LAMA2):c.283+1G>A rs200288072 0.00002
NM_000426.4(LAMA2):c.3215del (p.Cys1072fs) rs886041297 0.00002
NM_000426.4(LAMA2):c.4876C>T (p.Gln1626Ter) rs369776766 0.00002
NM_000426.4(LAMA2):c.5116C>T (p.Arg1706Ter) rs758775001 0.00002
NM_000426.4(LAMA2):c.5562+5G>C rs771046502 0.00002
NM_000426.4(LAMA2):c.6429+1G>T rs1262029350 0.00002
NM_000426.4(LAMA2):c.7377dup (p.Leu2460fs) rs749566145 0.00002
NM_000426.4(LAMA2):c.7658del (p.Ser2553fs) rs1293303410 0.00002
NM_000426.4(LAMA2):c.1027+3A>G rs772796883 0.00001
NM_000426.4(LAMA2):c.112+1G>A rs398123367 0.00001
NM_000426.4(LAMA2):c.112+2T>C rs1211322465 0.00001
NM_000426.4(LAMA2):c.1303C>T (p.Arg435Ter) rs773209126 0.00001
NM_000426.4(LAMA2):c.1580G>A (p.Cys527Tyr) rs121913574 0.00001
NM_000426.4(LAMA2):c.1854_1861dup (p.Leu621fs) rs202247791 0.00001
NM_000426.4(LAMA2):c.2584T>C (p.Cys862Arg) rs121913573 0.00001
NM_000426.4(LAMA2):c.2749+1G>C rs759555791 0.00001
NM_000426.4(LAMA2):c.2749+2dup rs759144210 0.00001
NM_000426.4(LAMA2):c.2836C>T (p.Gln946Ter) rs375638381 0.00001
NM_000426.4(LAMA2):c.2901C>A (p.Cys967Ter) rs121913577 0.00001
NM_000426.4(LAMA2):c.2T>C (p.Met1Thr) rs374403765 0.00001
NM_000426.4(LAMA2):c.3020_3021del (p.Gln1007fs) rs757164022 0.00001
NM_000426.4(LAMA2):c.3038-7G>A rs767841898 0.00001
NM_000426.4(LAMA2):c.329G>A (p.Trp110Ter) rs1441933780 0.00001
NM_000426.4(LAMA2):c.3556-13T>A rs775278003 0.00001
NM_000426.4(LAMA2):c.363C>A (p.Tyr121Ter) rs535635043 0.00001
NM_000426.4(LAMA2):c.3736-2A>T rs372715292 0.00001
NM_000426.4(LAMA2):c.396+1G>T rs770617208 0.00001
NM_000426.4(LAMA2):c.4280del (p.Ser1427fs) rs1433071073 0.00001
NM_000426.4(LAMA2):c.4348C>T (p.Arg1450Ter) rs200923373 0.00001
NM_000426.4(LAMA2):c.4523+1G>A rs398123375 0.00001
NM_000426.4(LAMA2):c.4645C>T (p.Arg1549Ter) rs121913575 0.00001
NM_000426.4(LAMA2):c.5234+1G>A rs781376927 0.00001
NM_000426.4(LAMA2):c.5602G>T (p.Glu1868Ter) rs1276300668 0.00001
NM_000426.4(LAMA2):c.5706_5712del (p.Asp1902fs) rs398123377 0.00001
NM_000426.4(LAMA2):c.5914C>T (p.Gln1972Ter) rs398123378 0.00001
NM_000426.4(LAMA2):c.6072del (p.Ala2025fs) rs1280099731 0.00001
NM_000426.4(LAMA2):c.6501C>A (p.Tyr2167Ter) rs1424455269 0.00001
NM_000426.4(LAMA2):c.6520del (p.Asn2173_Val2174insTer) rs776548207 0.00001
NM_000426.4(LAMA2):c.6955C>T (p.Arg2319Ter) rs398123383 0.00001
NM_000426.4(LAMA2):c.6993-2A>C rs200669208 0.00001
NM_000426.4(LAMA2):c.7044T>G (p.Tyr2348Ter) rs866663584 0.00001
NM_000426.4(LAMA2):c.7071G>A (p.Trp2357Ter) rs1276312596 0.00001
NM_000426.4(LAMA2):c.7074C>A (p.Tyr2358Ter) rs762806915 0.00001
NM_000426.4(LAMA2):c.8244+1G>A rs749522728 0.00001
NM_000426.4(LAMA2):c.8547+2T>C rs1450790879 0.00001
NM_000426.4(LAMA2):c.8748del (p.Glu2917fs) rs1345757357 0.00001
NC_000006.11:g.(?_129204381)_(129837502_?)del
NC_000006.11:g.(?_129204391)_(129204522_?)del
NC_000006.11:g.(?_129204391)_(129514018_?)del
NC_000006.11:g.(?_129371043)_(129486840_?)del
NC_000006.11:g.(?_129371043)_(129499031_?)del
NC_000006.11:g.(?_129371043)_(129622037_?)dup
NC_000006.11:g.(?_129371053)_(129725114_?)del
NC_000006.11:g.(?_129419298)_(129419580_?)del
NC_000006.11:g.(?_129419305)_(129514008_?)del
NC_000006.11:g.(?_129419305)_(129749009_?)del
NC_000006.11:g.(?_129465026)_(129514018_?)del
NC_000006.11:g.(?_129486711)_(129486830_?)del
NC_000006.11:g.(?_129581836)_(129581987_?)del
NC_000006.11:g.(?_129581836)_(129588384_?)del
NC_000006.11:g.(?_129601186)_(129674522_?)del
NC_000006.11:g.(?_129608982)_(129609213_?)del
NC_000006.11:g.(?_129612749)_(129612875_?)del
NC_000006.11:g.(?_129618820)_(129619020_?)del
NC_000006.11:g.(?_129621871)_(129622027_?)del
NC_000006.11:g.(?_129641663)_(129641820_?)del
NC_000006.11:g.(?_129663468)_(129663632_?)dup
NC_000006.11:g.(?_129670423)_(129691155_?)del
NC_000006.11:g.(?_129674299)_(129687516_?)del
NC_000006.11:g.(?_129687344)_(129691155_?)del
NC_000006.11:g.(?_129687354)_(129723642_?)del
NC_000006.11:g.(?_129691027)_(129704388_?)del
NC_000006.11:g.(?_129704247)_(129704398_?)del
NC_000006.11:g.(?_129712616)_(129712818_?)del
NC_000006.11:g.(?_129712616)_(129794517_?)del
NC_000006.11:g.(?_129722349)_(129723652_?)del
NC_000006.11:g.(?_129748887)_(129781479_?)del
NC_000006.11:g.(?_129766802)_(129837502_?)del
NC_000006.11:g.(?_129785425)_(129802594_?)del
NC_000006.11:g.(?_129807599)_(129807787_?)del
NC_000006.11:g.(?_129826335)_(129826510_?)del
NC_000006.11:g.(?_129837325)_(129837502_?)del
NC_000006.12:g.(?_128883236)_(128883367_?)del
NC_000006.12:g.(?_128883236)_(129098425_?)del
NC_000006.12:g.(?_129049908)_(129280157_?)del
NC_000006.12:g.(?_129059774)_(129098425_?)del
NC_000006.12:g.(?_129177696)_(129177876_?)del
NC_000006.12:g.(?_129287827)_(129288078_?)del
NC_000006.12:g.(?_129349278)_(129403979_?)del
NC_000006.12:g.(?_129349288)_(129403969_?)del
NC_000006.12:g.(?_129390037)_(129391573_?)del
NC_000006.12:g.(?_129486464)_(129486632_?)del
NC_000006.12:g.(?_129486474)_(129486622_?)del
NC_000006.12:g.(?_129516170)_(129516367_?)del
NC_000006.12:g.129059783GA[1]
NC_000006.12:g.129464290_129464296del
NM_000426.4(LAMA2):c.1027+1G>C
NM_000426.4(LAMA2):c.1027+1G>T rs1064797327
NM_000426.4(LAMA2):c.1032del (p.Ala343_Cys344insTer)
NM_000426.4(LAMA2):c.1065dup (p.Asp356Ter)
NM_000426.4(LAMA2):c.106C>T (p.Gln36Ter) rs1360796756
NM_000426.4(LAMA2):c.1122del (p.Gly376fs) rs1338860420
NM_000426.4(LAMA2):c.1127del (p.Gly376fs) rs1583149141
NM_000426.4(LAMA2):c.1153_1154del (p.Thr385fs)
NM_000426.4(LAMA2):c.1177T>G (p.Cys393Gly) rs2114976490
NM_000426.4(LAMA2):c.1190del (p.Phe397fs) rs1779001902
NM_000426.4(LAMA2):c.1206+1del
NM_000426.4(LAMA2):c.1233C>A (p.Cys411Ter)
NM_000426.4(LAMA2):c.1248C>A (p.Cys416Ter)
NM_000426.4(LAMA2):c.1255del (p.Ile419fs) rs1185229314
NM_000426.4(LAMA2):c.1291A>T (p.Lys431Ter) rs1583169165
NM_000426.4(LAMA2):c.12del (p.Ala5fs) rs1554312639
NM_000426.4(LAMA2):c.1301del (p.Arg434fs) rs1554230455
NM_000426.4(LAMA2):c.1306+1G>T rs2114993363
NM_000426.4(LAMA2):c.1382_1383del (p.Thr461fs) rs1780690164
NM_000426.4(LAMA2):c.1405_1406insAC (p.Cys469fs)
NM_000426.4(LAMA2):c.1419dup (p.Leu474fs)
NM_000426.4(LAMA2):c.1467+1G>A rs1554234161
NM_000426.4(LAMA2):c.1467+1G>T rs1554234161
NM_000426.4(LAMA2):c.1467+2T>C rs1554234163
NM_000426.4(LAMA2):c.1535G>A (p.Trp512Ter) rs1781452558
NM_000426.4(LAMA2):c.1596G>A (p.Trp532Ter)
NM_000426.4(LAMA2):c.1610_1611del (p.Ile537fs) rs886043374
NM_000426.4(LAMA2):c.1632T>A (p.Tyr544Ter)
NM_000426.4(LAMA2):c.1657C>T (p.Arg553Ter) rs1303773212
NM_000426.4(LAMA2):c.1677del (p.Asp559fs)
NM_000426.4(LAMA2):c.1700_1703dup (p.Ile569fs)
NM_000426.4(LAMA2):c.1727_1767del (p.Gln576fs) rs1583219849
NM_000426.4(LAMA2):c.1732del (p.Leu578fs)
NM_000426.4(LAMA2):c.1740del (p.His580fs)
NM_000426.4(LAMA2):c.1749C>G (p.Tyr583Ter)
NM_000426.4(LAMA2):c.1798G>T (p.Gly600Ter) rs36044314
NM_000426.4(LAMA2):c.1823_1824del (p.Ser607_Tyr608insTer)
NM_000426.4(LAMA2):c.1824T>G (p.Tyr608Ter) rs2114276382
NM_000426.4(LAMA2):c.1843G>T (p.Glu615Ter) rs2114276465
NM_000426.4(LAMA2):c.184G>T (p.Gly62Ter) rs398123368
NM_000426.4(LAMA2):c.1852G>T (p.Glu618Ter) rs1786070922
NM_000426.4(LAMA2):c.1877del (p.Ile626fs) rs2114276683
NM_000426.4(LAMA2):c.1881_1884del (p.Glu628fs)
NM_000426.4(LAMA2):c.1893_1897del (p.Asp631fs) rs746844753
NM_000426.4(LAMA2):c.1969G>T (p.Glu657Ter) rs1786303769
NM_000426.4(LAMA2):c.2042T>A (p.Leu681Ter) rs1786309286
NM_000426.4(LAMA2):c.2043delinsCT (p.Leu681fs) rs1786309735
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs) rs202247790
NM_000426.4(LAMA2):c.2068_2071del (p.Tyr690fs) rs1583345113
NM_000426.4(LAMA2):c.2070del (p.Thr689_Tyr690insTer)
NM_000426.4(LAMA2):c.2187del (p.Tyr730fs) rs2114320699
NM_000426.4(LAMA2):c.2192del (p.Thr731fs) rs1562389593
NM_000426.4(LAMA2):c.2230C>T (p.Arg744Ter) rs775676341
NM_000426.4(LAMA2):c.2252del (p.Gly751fs)
NM_000426.4(LAMA2):c.2271T>A (p.Cys757Ter)
NM_000426.4(LAMA2):c.2350dup (p.Tyr784fs) rs1554260284
NM_000426.4(LAMA2):c.2370T>A (p.Pro790=)
NM_000426.4(LAMA2):c.2383G>T (p.Glu795Ter)
NM_000426.4(LAMA2):c.2421T>A (p.Cys807Ter)
NM_000426.4(LAMA2):c.244C>T (p.Gln82Ter)
NM_000426.4(LAMA2):c.2461A>C (p.Thr821Pro) rs186538779
NM_000426.4(LAMA2):c.2500G>T (p.Gly834Ter) rs2114391000
NM_000426.4(LAMA2):c.2520dup (p.Gly841fs) rs2114391108
NM_000426.4(LAMA2):c.253dup (p.Ile85fs) rs1248727589
NM_000426.4(LAMA2):c.2541T>A (p.Cys847Ter) rs2114420247
NM_000426.4(LAMA2):c.2556del (p.Phe852fs) rs750731624
NM_000426.4(LAMA2):c.2560C>T (p.Gln854Ter) rs1583421520
NM_000426.4(LAMA2):c.2565del (p.Ser856fs) rs2114420319
NM_000426.4(LAMA2):c.2586T>A (p.Cys862Ter) rs1789390592
NM_000426.4(LAMA2):c.2595C>A (p.Cys865Ter) rs1789391655
NM_000426.4(LAMA2):c.2651del (p.Gly884fs)
NM_000426.4(LAMA2):c.2658T>A (p.Cys886Ter) rs1789395190
NM_000426.4(LAMA2):c.2749+1G>A rs759555791
NM_000426.4(LAMA2):c.2749+1G>T
NM_000426.4(LAMA2):c.2806C>T (p.Gln936Ter)
NM_000426.4(LAMA2):c.283C>T (p.Gln95Ter) rs1018100729
NM_000426.4(LAMA2):c.2841_2842del (p.Arg947_Cys948insTer)
NM_000426.4(LAMA2):c.2859_2862dup (p.Thr955fs)
NM_000426.4(LAMA2):c.2863_2869del (p.Thr955fs)
NM_000426.4(LAMA2):c.2907C>A (p.Cys969Ter)
NM_000426.4(LAMA2):c.2916del (p.Phe972fs)
NM_000426.4(LAMA2):c.2962C>T (p.Gln988Ter) rs398123371
NM_000426.4(LAMA2):c.3089_3126dup (p.Lys1043fs) rs2114460969
NM_000426.4(LAMA2):c.3146G>A (p.Trp1049Ter)
NM_000426.4(LAMA2):c.3182del (p.Asn1061fs) rs1258407314
NM_000426.4(LAMA2):c.3232C>T (p.Gln1078Ter) rs2114493974
NM_000426.4(LAMA2):c.3237C>A (p.Cys1079Ter) rs1554268940
NM_000426.4(LAMA2):c.3258del (p.Gly1087fs)
NM_000426.4(LAMA2):c.3275_3276del (p.Glu1092fs) rs1156538773
NM_000426.4(LAMA2):c.327G>A (p.Trp109Ter) rs1788769048
NM_000426.4(LAMA2):c.3283C>T (p.Arg1095Ter) rs376088608
NM_000426.4(LAMA2):c.3294G>A (p.Trp1098Ter)
NM_000426.4(LAMA2):c.3294del (p.His1097_Trp1098insTer) rs764839142
NM_000426.4(LAMA2):c.3300C>A (p.Tyr1100Ter) rs1583469993
NM_000426.4(LAMA2):c.3318_3319del (p.Cys1106_Asp1107delinsTer)
NM_000426.4(LAMA2):c.3332del (p.Pro1111fs) rs2114494356
NM_000426.4(LAMA2):c.3338_3345dup (p.Thr1116fs) rs2114494398
NM_000426.4(LAMA2):c.3372dup (p.Cys1125fs) rs1361925574
NM_000426.4(LAMA2):c.3449_3453del (p.Pro1150fs) rs1774464446
NM_000426.4(LAMA2):c.3555G>A (p.Trp1185Ter)
NM_000426.4(LAMA2):c.3607C>T (p.Gln1203Ter)
NM_000426.4(LAMA2):c.3623_3645del (p.Lys1208fs) rs727503992
NM_000426.4(LAMA2):c.3630del (p.Ile1210fs) rs398123372
NM_000426.4(LAMA2):c.3646G>T (p.Glu1216Ter)
NM_000426.4(LAMA2):c.3700_3701insTTTTTTTTTTNNNNNNNNNNAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGAACCTTTTT (p.Tyr1234delinsPhePhePheXaaXaaXaaXaaArgMetValSerIleSerTer) rs2114501598
NM_000426.4(LAMA2):c.3700_3701insTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGAACCTTTT (p.Tyr1234delinsPhePhePhePhePhePhePhePheTer)
NM_000426.4(LAMA2):c.3718C>T (p.Gln1240Ter) rs121913569
NM_000426.4(LAMA2):c.3736-1G>C
NM_000426.4(LAMA2):c.3747T>G (p.Tyr1249Ter)
NM_000426.4(LAMA2):c.3768_3771dup (p.Tyr1258fs)
NM_000426.4(LAMA2):c.3799_3821del (p.Phe1267fs) rs750220830
NM_000426.4(LAMA2):c.3806del (p.Thr1269fs)
NM_000426.4(LAMA2):c.3817C>T (p.Gln1273Ter) rs200625655
NM_000426.4(LAMA2):c.3829C>T (p.Arg1277Ter) rs1554269891
NM_000426.4(LAMA2):c.3874del (p.Ala1292fs) rs2114502447
NM_000426.4(LAMA2):c.3886_3889del (p.Ile1296fs) rs1774572282
NM_000426.4(LAMA2):c.391C>T (p.Gln131Ter) rs1562200866
NM_000426.4(LAMA2):c.3924+2T>C rs1554269966
NM_000426.4(LAMA2):c.3928G>T (p.Glu1310Ter) rs755643402
NM_000426.4(LAMA2):c.3932G>A (p.Trp1311Ter) rs2114502893
NM_000426.4(LAMA2):c.3955C>T (p.Arg1319Ter) rs1180309541
NM_000426.4(LAMA2):c.396+1G>A
NM_000426.4(LAMA2):c.3979_3985dup (p.Phe1329Ter) rs886042847
NM_000426.4(LAMA2):c.4002T>G (p.Tyr1334Ter) rs1562451730
NM_000426.4(LAMA2):c.4035T>G (p.Tyr1345Ter)
NM_000426.4(LAMA2):c.4049del (p.Arg1350fs)
NM_000426.4(LAMA2):c.4058+1G>A rs2114503272
NM_000426.4(LAMA2):c.4115del (p.Pro1372fs)
NM_000426.4(LAMA2):c.4147_4148insGAAGGGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAAATGTGATTGTC (p.Pro1383delinsArgArgGlyGlyAlaLysMetAlaGluTer)
NM_000426.4(LAMA2):c.414T>G (p.Tyr138Ter) rs2114873123
NM_000426.4(LAMA2):c.4198C>T (p.Arg1400Ter) rs775112258
NM_000426.4(LAMA2):c.4210C>T (p.Gln1404Ter) rs2114532848
NM_000426.4(LAMA2):c.4240del (p.Leu1414fs) rs2114532949
NM_000426.4(LAMA2):c.4261C>T (p.Gln1421Ter)
NM_000426.4(LAMA2):c.428_432del (p.Ala143fs)
NM_000426.4(LAMA2):c.4297del (p.Thr1433fs) rs2114533123
NM_000426.4(LAMA2):c.4312-1G>C rs1776314873
NM_000426.4(LAMA2):c.4312-2A>G rs2114568240
NM_000426.4(LAMA2):c.4334_4352dup (p.Cys1451delinsTrpTer)
NM_000426.4(LAMA2):c.4345G>T (p.Glu1449Ter)
NM_000426.4(LAMA2):c.4366_4370del (p.Tyr1456fs) rs2114568387
NM_000426.4(LAMA2):c.4368T>A (p.Tyr1456Ter) rs758048573
NM_000426.4(LAMA2):c.442dup (p.Arg148fs) rs1775302275
NM_000426.4(LAMA2):c.4498G>T (p.Gly1500Ter) rs776889674
NM_000426.4(LAMA2):c.4523G>A (p.Arg1508Lys) rs770084568
NM_000426.4(LAMA2):c.4523G>C (p.Arg1508Thr) rs770084568
NM_000426.4(LAMA2):c.4533del (p.Gly1512fs) rs1776950897
NM_000426.4(LAMA2):c.4583_4584del (p.Glu1528fs) rs2114593280
NM_000426.4(LAMA2):c.4615del (p.Cys1539fs) rs2114593373
NM_000426.4(LAMA2):c.4634del (p.Phe1545fs) rs2114593440
NM_000426.4(LAMA2):c.4638C>A (p.Cys1546Ter)
NM_000426.4(LAMA2):c.4682del (p.Lys1561fs) rs1246940477
NM_000426.4(LAMA2):c.4688G>A (p.Trp1563Ter) rs2114593621
NM_000426.4(LAMA2):c.4692_4695dup (p.Arg1566fs) rs774051471
NM_000426.4(LAMA2):c.4706G>A (p.Trp1569Ter)
NM_000426.4(LAMA2):c.4714_4715del (p.Val1572fs) rs1186050632
NM_000426.4(LAMA2):c.4729G>T (p.Glu1577Ter)
NM_000426.4(LAMA2):c.4739dup (p.Leu1581fs) rs1392196900
NM_000426.4(LAMA2):c.4757T>A (p.Leu1586Ter) rs2114619908
NM_000426.4(LAMA2):c.4814_4830del (p.Pro1605fs) rs2114620061
NM_000426.4(LAMA2):c.4860+1G>A
NM_000426.4(LAMA2):c.4962del (p.Thr1655fs) rs1778789800
NM_000426.4(LAMA2):c.4984G>T (p.Glu1662Ter)
NM_000426.4(LAMA2):c.498G>A (p.Trp166Ter) rs553221833
NM_000426.4(LAMA2):c.4992_4996del (p.Gln1666fs)
NM_000426.4(LAMA2):c.4996C>T (p.Gln1666Ter) rs2114654019
NM_000426.4(LAMA2):c.499C>T (p.Gln167Ter) rs2114873389
NM_000426.4(LAMA2):c.5020A>T (p.Arg1674Ter)
NM_000426.4(LAMA2):c.5038G>T (p.Glu1680Ter) rs1778794887
NM_000426.4(LAMA2):c.504T>A (p.Tyr168Ter) rs1008335405
NM_000426.4(LAMA2):c.5050G>T (p.Glu1684Ter) rs201632009
NM_000426.4(LAMA2):c.5071+1G>A rs757661749
NM_000426.4(LAMA2):c.5071+3104del rs1554285766
NM_000426.4(LAMA2):c.5085dup (p.Ala1696fs) rs1351661862
NM_000426.4(LAMA2):c.5135del (p.Arg1712fs) rs2114671870
NM_000426.4(LAMA2):c.5156_5159del (p.Lys1719fs) rs1554286963
NM_000426.4(LAMA2):c.5195dup (p.Asn1732fs) rs747567057
NM_000426.4(LAMA2):c.5234+1G>C
NM_000426.4(LAMA2):c.523G>T (p.Glu175Ter) rs863224891
NM_000426.4(LAMA2):c.5259del (p.Lys1753_Val1754insTer) rs1211739649
NM_000426.4(LAMA2):c.5284del (p.Arg1762fs)
NM_000426.4(LAMA2):c.5290dup (p.Glu1764fs) rs1415944134
NM_000426.4(LAMA2):c.5294del (p.Asn1765fs) rs1296345962
NM_000426.4(LAMA2):c.5296G>T (p.Glu1766Ter) rs1231277831
NM_000426.4(LAMA2):c.5325dup (p.Leu1776fs) rs768458445
NM_000426.4(LAMA2):c.5356dup (p.Ala1786fs) rs2114674819
NM_000426.4(LAMA2):c.5369_5370del (p.Leu1789_Leu1790insTer)
NM_000426.4(LAMA2):c.5374G>T (p.Glu1792Ter) rs746201268
NM_000426.4(LAMA2):c.5429dup (p.Asn1810fs)
NM_000426.4(LAMA2):c.54_64del (p.Gly19fs)
NM_000426.4(LAMA2):c.5562+5G>A rs771046502
NM_000426.4(LAMA2):c.5582del (p.Thr1861fs) rs1780027332
NM_000426.4(LAMA2):c.561del (p.Pro188fs)
NM_000426.4(LAMA2):c.5795_5804del (p.Lys1932fs) rs1780109910
NM_000426.4(LAMA2):c.5830G>T (p.Glu1944Ter) rs1780112044
NM_000426.4(LAMA2):c.5853del (p.Ala1952fs) rs1554290311
NM_000426.4(LAMA2):c.5866-1G>A rs1064797040
NM_000426.4(LAMA2):c.5866-2A>G rs1554295204
NM_000426.4(LAMA2):c.58dup (p.Val20fs)
NM_000426.4(LAMA2):c.5910T>A (p.Cys1970Ter) rs1781395670
NM_000426.4(LAMA2):c.5962_5963delinsTG (p.Val1988Ter) rs2114740915
NM_000426.4(LAMA2):c.5968G>T (p.Glu1990Ter) rs1376412082
NM_000426.4(LAMA2):c.6031del (p.Asp2011fs) rs2114761115
NM_000426.4(LAMA2):c.6062dup (p.Leu2023fs) rs1554297242
NM_000426.4(LAMA2):c.6076del (p.Ile2026fs)
NM_000426.4(LAMA2):c.618_621dup (p.Pro208fs)
NM_000426.4(LAMA2):c.61C>T (p.Gln21Ter) rs886061039
NM_000426.4(LAMA2):c.61_62del (p.Gln21fs) rs1554312687
NM_000426.4(LAMA2):c.6283dup (p.Ala2095fs) rs1782332430
NM_000426.4(LAMA2):c.6305T>G (p.Leu2102Ter) rs1782333085
NM_000426.4(LAMA2):c.638del (p.Glu213fs)
NM_000426.4(LAMA2):c.6429+1G>A
NM_000426.4(LAMA2):c.6443del (p.Val2148fs) rs770895341
NM_000426.4(LAMA2):c.6444_6445del (p.Ser2149fs)
NM_000426.4(LAMA2):c.6466C>T (p.Arg2156Ter) rs922640025
NM_000426.4(LAMA2):c.6484del (p.Ile2162fs)
NM_000426.4(LAMA2):c.6488del (p.Lys2163fs) rs886039482
NM_000426.4(LAMA2):c.6500dup (p.Tyr2167Ter)
NM_000426.4(LAMA2):c.6510TGT[1] (p.Val2172del) rs1363017615
NM_000426.4(LAMA2):c.652_653del (p.Leu218fs) rs2114958680
NM_000426.4(LAMA2):c.6555T>A (p.Tyr2185Ter)
NM_000426.4(LAMA2):c.6573del (p.Phe2191fs) rs2114788848
NM_000426.4(LAMA2):c.6588dup (p.Ile2197fs)
NM_000426.4(LAMA2):c.6617del (p.Phe2206fs) rs867012156
NM_000426.4(LAMA2):c.664_665insAC (p.Arg222fs)
NM_000426.4(LAMA2):c.666A>C (p.Arg222Ser) rs2114958704
NM_000426.4(LAMA2):c.6690C>A (p.Tyr2230Ter) rs1583790201
NM_000426.4(LAMA2):c.6768_6771dup (p.Ser2258fs)
NM_000426.4(LAMA2):c.67C>T (p.Gln23Ter)
NM_000426.4(LAMA2):c.6801_6802del (p.Tyr2268fs)
NM_000426.4(LAMA2):c.6820del (p.Asp2274fs) rs1562581261
NM_000426.4(LAMA2):c.6919_6920del (p.Tyr2307fs) rs757404275
NM_000426.4(LAMA2):c.6924dup (p.Asp2309Ter)
NM_000426.4(LAMA2):c.6964del (p.Glu2322fs) rs2114801377
NM_000426.4(LAMA2):c.6993-2A>G rs200669208
NM_000426.4(LAMA2):c.7042dup (p.Tyr2348fs)
NM_000426.4(LAMA2):c.7070G>A (p.Trp2357Ter) rs761714859
NM_000426.4(LAMA2):c.7147C>T (p.Arg2383Ter) rs121913576
NM_000426.4(LAMA2):c.7147del (p.Arg2383fs)
NM_000426.4(LAMA2):c.7156-5_7157delinsT rs1554301854
NM_000426.4(LAMA2):c.7181del (p.Thr2394fs) rs1583815667
NM_000426.4(LAMA2):c.7207_7208dup (p.Asp2403fs) rs1554301883
NM_000426.4(LAMA2):c.720T>G (p.Tyr240Ter)
NM_000426.4(LAMA2):c.7265G>A (p.Trp2422Ter)
NM_000426.4(LAMA2):c.7279_7280del (p.Leu2427fs) rs398123385
NM_000426.4(LAMA2):c.7280del (p.Leu2427fs)
NM_000426.4(LAMA2):c.7297C>T (p.Gln2433Ter)
NM_000426.4(LAMA2):c.7370del (p.Asn2457fs) rs2114823738
NM_000426.4(LAMA2):c.7393_7394del (p.Ala2464_Asp2465insTer) rs2114823800
NM_000426.4(LAMA2):c.7439+1G>A rs886043630
NM_000426.4(LAMA2):c.7473_7475dup (p.Tyr2492Ter) rs1784205288
NM_000426.4(LAMA2):c.7490_7493dup (p.Asp2498fs) rs1480934961
NM_000426.4(LAMA2):c.7518C>A (p.Tyr2506Ter) rs2114834541
NM_000426.4(LAMA2):c.7536del (p.Asp2513fs) rs398123387
NM_000426.4(LAMA2):c.7568del (p.Leu2523fs)
NM_000426.4(LAMA2):c.7572+1G>T
NM_000426.4(LAMA2):c.7572+2T>G
NM_000426.4(LAMA2):c.7623del (p.Val2542fs) rs1784334715
NM_000426.4(LAMA2):c.7655del (p.Leu2552fs) rs1384474600
NM_000426.4(LAMA2):c.7666del (p.Thr2556fs) rs2114839550
NM_000426.4(LAMA2):c.7710_7711insG (p.Pro2571fs) rs1554305937
NM_000426.4(LAMA2):c.7753_7756dup (p.Tyr2586fs)
NM_000426.4(LAMA2):c.7788del (p.Val2597fs)
NM_000426.4(LAMA2):c.7810C>T (p.Arg2604Ter) rs766920075
NM_000426.4(LAMA2):c.7814del (p.Thr2605fs) rs2114848989
NM_000426.4(LAMA2):c.7827_7848del (p.Val2610fs) rs1784594432
NM_000426.4(LAMA2):c.7870_7871dup (p.Ser2625fs) rs2114849148
NM_000426.4(LAMA2):c.7888C>T (p.Arg2630Ter) rs727502851
NM_000426.4(LAMA2):c.7898+1G>A rs1784599832
NM_000426.4(LAMA2):c.7927A>T (p.Arg2643Ter) rs2114859541
NM_000426.4(LAMA2):c.7928_7929del (p.Arg2643fs)
NM_000426.4(LAMA2):c.7935C>A (p.Tyr2645Ter)
NM_000426.4(LAMA2):c.7945del (p.Asn2648_Leu2649insTer) rs2114859580
NM_000426.4(LAMA2):c.7966G>T (p.Glu2656Ter) rs909847521
NM_000426.4(LAMA2):c.7991del (p.Gly2664fs) rs886039541
NM_000426.4(LAMA2):c.799G>A (p.Asp267Asn)
NM_000426.4(LAMA2):c.8020_8023dup (p.Arg2675fs) rs1784889421
NM_000426.4(LAMA2):c.8040del (p.Phe2680fs)
NM_000426.4(LAMA2):c.8052dup (p.Trp2685fs)
NM_000426.4(LAMA2):c.8073del (p.Val2692fs)
NM_000426.4(LAMA2):c.8096del (p.Pro2699fs) rs1784912657
NM_000426.4(LAMA2):c.8111del (p.Asn2704fs)
NM_000426.4(LAMA2):c.8115del (p.Asp2706fs)
NM_000426.4(LAMA2):c.8127del (p.Cys2710fs) rs1784914735
NM_000426.4(LAMA2):c.8178_8185del (p.Glu2726fs) rs2114860862
NM_000426.4(LAMA2):c.8180_8181del (p.Ile2727fs) rs1205783002
NM_000426.4(LAMA2):c.8188C>T (p.Gln2730Ter) rs1784919273
NM_000426.4(LAMA2):c.819+2T>C rs1554226188
NM_000426.4(LAMA2):c.8244+1G>C
NM_000426.4(LAMA2):c.8244+3_8244+6del rs746678525
NM_000426.4(LAMA2):c.828C>G (p.Tyr276Ter) rs1028599119
NM_000426.4(LAMA2):c.832del (p.Val278fs)
NM_000426.4(LAMA2):c.8363del (p.Thr2788fs) rs2114890695
NM_000426.4(LAMA2):c.8378_8381del (p.Val2793fs) rs2114890769
NM_000426.4(LAMA2):c.8541del (p.Trp2847fs) rs2114891707
NM_000426.4(LAMA2):c.8547+1G>T rs1554315373
NM_000426.4(LAMA2):c.8581_8584dup (p.Tyr2862fs) rs1583919688
NM_000426.4(LAMA2):c.8586T>G (p.Tyr2862Ter)
NM_000426.4(LAMA2):c.8613dup (p.Ser2872fs) rs2114900655
NM_000426.4(LAMA2):c.8625del (p.Ala2876fs)
NM_000426.4(LAMA2):c.8647G>T (p.Gly2883Ter) rs2114900886
NM_000426.4(LAMA2):c.8669dup (p.Leu2890fs) rs1554316216
NM_000426.4(LAMA2):c.8682C>G (p.Tyr2894Ter) rs2114901162
NM_000426.4(LAMA2):c.8683_8687del (p.Thr2895fs) rs1785972046
NM_000426.4(LAMA2):c.8689C>T (p.Arg2897Ter) rs750328754
NM_000426.4(LAMA2):c.8692del (p.Arg2898fs) rs1785973861
NM_000426.4(LAMA2):c.8703+1G>A
NM_000426.4(LAMA2):c.8725T>C (p.Cys2909Arg)
NM_000426.4(LAMA2):c.872del (p.Gly291fs) rs1222620175
NM_000426.4(LAMA2):c.8769dup (p.Gln2924fs) rs1583929127
NM_000426.4(LAMA2):c.8770C>T (p.Gln2924Ter) rs1034133545
NM_000426.4(LAMA2):c.8798del (p.Thr2933fs) rs2114911219
NM_000426.4(LAMA2):c.8962_8965dup (p.Gly2989fs) rs2114931095
NM_000426.4(LAMA2):c.8986A>T (p.Lys2996Ter) rs2114931240
NM_000426.4(LAMA2):c.9031_9034dup (p.Tyr3012fs) rs1786860270
NM_000426.4(LAMA2):c.9066_9102dup (p.His3035delinsTrpThrMetAlaTer)
NM_000426.4(LAMA2):c.9075G>A (p.Trp3025Ter)
NM_000426.4(LAMA2):c.910-1G>A rs2114967780
NM_000426.4(LAMA2):c.910-1G>T rs2114967780
NM_000426.4(LAMA2):c.9101_9104dup (p.His3035fs) rs398123390
NM_000426.4(LAMA2):c.9116del (p.Leu3039fs)
NM_000426.4(LAMA2):c.9139G>T (p.Glu3047Ter)
NM_000426.4(LAMA2):c.9139_9145dup (p.Gln3049fs)
NM_000426.4(LAMA2):c.9141dup (p.Ala3048fs)
NM_000426.4(LAMA2):c.9149_9155del (p.Ser3050fs) rs1323340608
NM_000426.4(LAMA2):c.9158del (p.Pro3053fs) rs2114939704
NM_000426.4(LAMA2):c.9168_9169dup (p.Ser3057fs) rs2114939796
NM_000426.4(LAMA2):c.9188_9189del (p.Pro3063fs)
NM_000426.4(LAMA2):c.9191dup (p.Phe3065fs) rs2114939909
NM_000426.4(LAMA2):c.9192_9193del (p.Phe3065fs) rs1786879628
NM_000426.4(LAMA2):c.9195_9198dup (p.Gly3067fs) rs2114939917
NM_000426.4(LAMA2):c.9211+1G>A rs1554320318
NM_000426.4(LAMA2):c.9222del (p.Lys3074fs) rs1787058325
NM_000426.4(LAMA2):c.9223C>T (p.Gln3075Ter) rs771012835
NM_000426.4(LAMA2):c.9253C>T (p.Arg3085Ter) rs121913571
NM_000426.4(LAMA2):c.938_939del (p.Thr313fs) rs2114967814
NM_000426.4(LAMA2):c.942T>A (p.Cys314Ter) rs2114967843
NM_000426.4(LAMA2):c.951_952insCT (p.Cys318fs) rs1554227092
NM_000426.4(LAMA2):c.991A>T (p.Arg331Ter) rs1457748796

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