ClinVar Miner

List of variants studied for congenital merosin-deficient muscular dystrophy 1A

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 642
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000426.4(LAMA2):c.381C>A (p.Thr127=) rs4404787 0.95273
NM_000426.4(LAMA2):c.7830G>C (p.Val2610=) rs2229849 0.63028
NM_000426.4(LAMA2):c.7760C>T (p.Ala2587Val) rs2229848 0.62946
NM_000426.4(LAMA2):c.5466A>G (p.Glu1822=) rs3749877 0.50817
NM_000426.4(LAMA2):c.5502G>A (p.Glu1834=) rs3749878 0.50693
NM_000426.4(LAMA2):c.5727-24T>A rs3828735 0.50074
NM_000426.4(LAMA2):c.5727-22C>T rs80125253 0.50051
NM_000426.4(LAMA2):c.5727-21T>G rs76902576 0.50019
NM_000426.4(LAMA2):c.7760= (p.Ala2587=) rs2229848 0.37054
NM_000426.4(LAMA2):c.7845G>A (p.Pro2615=) rs2229850 0.35164
NM_000426.4(LAMA2):c.3174+38A>G rs902373 0.33937
NM_000426.4(LAMA2):c.2799A>G (p.Gln933=) rs1027199 0.26612
NM_000426.4(LAMA2):c.1856G>A (p.Arg619His) rs3816665 0.25723
NM_000426.4(LAMA2):c.3411+13G>A rs3798663 0.25503
NM_000426.4(LAMA2):c.3412G>A (p.Val1138Met) rs2306942 0.09135
NM_000426.4(LAMA2):c.7906A>G (p.Thr2636Ala) rs2244008 0.08650
NM_000426.4(LAMA2):c.156C>T (p.Ile52=) rs1140366 0.08370
NM_000426.4(LAMA2):c.4523+19C>T rs17057158 0.08168
NM_000426.4(LAMA2):c.4956C>G (p.Thr1652=) rs17057184 0.07998
NM_000426.4(LAMA2):c.8028T>C (p.Asn2676=) rs35313209 0.02285
NM_000426.4(LAMA2):c.8528A>G (p.Asn2843Ser) rs73599293 0.02196
NM_000426.4(LAMA2):c.8691A>G (p.Arg2897=) rs2228599 0.01648
NM_000426.4(LAMA2):c.3613A>G (p.Thr1205Ala) rs35889149 0.01262
NM_000426.4(LAMA2):c.7431A>T (p.Arg2477Ser) rs34367843 0.00914
NM_000426.4(LAMA2):c.8548-10T>C rs113644365 0.00865
NM_000426.4(LAMA2):c.1403C>G (p.Ala468Gly) rs111695726 0.00720
NM_000426.4(LAMA2):c.8774C>T (p.Pro2925Leu) rs77113162 0.00635
NM_000426.4(LAMA2):c.6150T>C (p.Asp2050=) rs114766691 0.00339
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val) rs147077184 0.00338
NM_000426.4(LAMA2):c.8755C>T (p.Pro2919Ser) rs143026295 0.00224
NM_000426.4(LAMA2):c.2462C>T (p.Thr821Met) rs117422805 0.00173
NM_000426.4(LAMA2):c.1650C>T (p.Gly550=) rs899353 0.00120
NM_000426.4(LAMA2):c.6161A>G (p.Gln2054Arg) rs56035053 0.00098
NM_000426.4(LAMA2):c.9211+6T>C rs201375881 0.00091
NM_000426.4(LAMA2):c.1400A>G (p.Lys467Arg) rs138162760 0.00071
NM_000426.4(LAMA2):c.946G>A (p.Asp316Asn) rs141340479 0.00067
NM_000426.4(LAMA2):c.3532G>A (p.Ala1178Thr) rs34505698 0.00066
NM_000426.4(LAMA2):c.6268+5G>C rs182064878 0.00066
NM_000426.4(LAMA2):c.7250A>G (p.His2417Arg) rs147185142 0.00053
NM_000426.4(LAMA2):c.6269-831C>G rs371162111 0.00047
NM_000426.4(LAMA2):c.2217G>T (p.Trp739Cys) rs192317605 0.00039
NM_000426.4(LAMA2):c.3244C>T (p.His1082Tyr) rs146490004 0.00028
NM_000426.4(LAMA2):c.5509G>A (p.Asp1837Asn) rs749423866 0.00026
NM_000426.4(LAMA2):c.6229G>A (p.Ala2077Thr) rs142264176 0.00026
NM_000426.4(LAMA2):c.6832A>G (p.Met2278Val) rs146854942 0.00026
NM_000426.4(LAMA2):c.4010A>G (p.His1337Arg) rs139739075 0.00024
NM_000426.4(LAMA2):c.4205G>A (p.Arg1402His) rs144830879 0.00024
NM_000426.4(LAMA2):c.5405G>T (p.Arg1802Leu) rs141235562 0.00022
NM_000426.4(LAMA2):c.8905C>T (p.Arg2969Cys) rs374888837 0.00021
NM_000426.4(LAMA2):c.8920A>T (p.Thr2974Ser) rs140202046 0.00021
NM_000426.4(LAMA2):c.7415G>T (p.Gly2472Val) rs200921233 0.00019
NM_000426.4(LAMA2):c.7088C>T (p.Thr2363Ile) rs371403343 0.00017
NM_000426.4(LAMA2):c.8989-12C>G rs144860334 0.00017
NM_000426.4(LAMA2):c.7057C>T (p.Arg2353Cys) rs145885540 0.00016
NM_000426.4(LAMA2):c.4969G>A (p.Val1657Met) rs370971334 0.00014
NM_000426.4(LAMA2):c.542A>G (p.Asn181Ser) rs143664472 0.00014
NM_000426.4(LAMA2):c.8011C>A (p.Pro2671Thr) rs780695627 0.00014
NM_000426.4(LAMA2):c.9188C>A (p.Pro3063His) rs151285465 0.00014
NM_000426.4(LAMA2):c.6322C>T (p.Arg2108Trp) rs139824017 0.00012
NM_000426.4(LAMA2):c.725G>A (p.Arg242His) rs373570586 0.00012
NM_000426.4(LAMA2):c.1373G>A (p.Arg458Lys) rs140604077 0.00011
NM_000426.4(LAMA2):c.8842G>A (p.Gly2948Ser) rs143638361 0.00011
NM_000426.4(LAMA2):c.8907C>T (p.Arg2969=) rs367622610 0.00011
NM_000426.4(LAMA2):c.1391C>T (p.Pro464Leu) rs150394215 0.00010
NM_000426.4(LAMA2):c.2240G>C (p.Gly747Ala) rs139843107 0.00010
NM_000426.4(LAMA2):c.4048C>T (p.Arg1350Ter) rs756854513 0.00010
NM_000426.4(LAMA2):c.9161C>A (p.Ala3054Glu) rs151049890 0.00010
NM_000426.4(LAMA2):c.715C>T (p.Arg239Cys) rs145465528 0.00009
NM_000426.4(LAMA2):c.4075A>G (p.Met1359Val) rs749372185 0.00008
NM_000426.4(LAMA2):c.6563G>A (p.Ser2188Asn) rs372592018 0.00008
NM_000426.4(LAMA2):c.9328G>A (p.Glu3110Lys) rs140829166 0.00008
NM_000426.4(LAMA2):c.2054T>G (p.Leu685Arg) rs746641607 0.00007
NM_000426.4(LAMA2):c.5179G>C (p.Glu1727Gln) rs374201203 0.00007
NM_000426.4(LAMA2):c.711C>T (p.Ser237=) rs369745832 0.00007
NM_000426.4(LAMA2):c.7486C>T (p.Leu2496Phe) rs970365005 0.00007
NM_000426.4(LAMA2):c.1300C>T (p.Arg434Ter) rs1374568851 0.00006
NM_000426.4(LAMA2):c.3662T>G (p.Met1221Arg) rs140895872 0.00006
NM_000426.4(LAMA2):c.3862G>A (p.Val1288Ile) rs758134778 0.00006
NM_000426.4(LAMA2):c.409G>A (p.Ala137Thr) rs368349321 0.00006
NM_000426.4(LAMA2):c.5072-9C>A rs770904109 0.00006
NM_000426.4(LAMA2):c.5158G>C (p.Glu1720Gln) rs760572086 0.00006
NM_000426.4(LAMA2):c.5260del (p.Lys1753_Val1754insTer) rs794727594 0.00006
NM_000426.4(LAMA2):c.7978C>A (p.Leu2660Ile) rs201587923 0.00006
NM_000426.4(LAMA2):c.8326A>T (p.Ile2776Phe) rs569286697 0.00006
NM_000426.4(LAMA2):c.8524A>G (p.Ile2842Val) rs140178576 0.00006
NM_000426.4(LAMA2):c.8836G>A (p.Gly2946Arg) rs370843758 0.00006
NM_000426.4(LAMA2):c.9145C>G (p.Gln3049Glu) rs146525742 0.00006
NM_000426.4(LAMA2):c.1084A>T (p.Arg362Ter) rs191912891 0.00005
NM_000426.4(LAMA2):c.1586G>A (p.Ser529Asn) rs370691060 0.00005
NM_000426.4(LAMA2):c.3403A>C (p.Thr1135Pro) rs760558443 0.00005
NM_000426.4(LAMA2):c.5562+1G>A rs376014152 0.00005
NM_000426.4(LAMA2):c.8570A>G (p.Gln2857Arg) rs372956200 0.00005
NM_000426.4(LAMA2):c.149C>T (p.Ala50Val) rs191899712 0.00004
NM_000426.4(LAMA2):c.2512G>A (p.Gly838Arg) rs150361703 0.00004
NM_000426.4(LAMA2):c.4118C>T (p.Pro1373Leu) rs754163400 0.00004
NM_000426.4(LAMA2):c.5050G>A (p.Glu1684Lys) rs201632009 0.00004
NM_000426.4(LAMA2):c.7732C>T (p.Arg2578Ter) rs121913572 0.00004
NM_000426.4(LAMA2):c.830C>T (p.Ser277Leu) rs398123388 0.00004
NM_000426.4(LAMA2):c.8497G>T (p.Asp2833Tyr) rs794727815 0.00004
NM_000426.4(LAMA2):c.2451-2A>G rs993196576 0.00003
NM_000426.4(LAMA2):c.2477G>A (p.Arg826Gln) rs759973830 0.00003
NM_000426.4(LAMA2):c.2609A>G (p.Asn870Ser) rs1322715021 0.00003
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.4471G>A (p.Asp1491Asn) rs375640462 0.00003
NM_000426.4(LAMA2):c.4960-17C>A rs758048596 0.00003
NM_000426.4(LAMA2):c.5476C>T (p.Arg1826Ter) rs747349942 0.00003
NM_000426.4(LAMA2):c.5477G>A (p.Arg1826Gln) rs373614496 0.00003
NM_000426.4(LAMA2):c.6269-829A>G rs758519410 0.00003
NM_000426.4(LAMA2):c.640-1G>A rs1296761337 0.00003
NM_000426.4(LAMA2):c.6702A>T (p.Ala2234=) rs372212378 0.00003
NM_000426.4(LAMA2):c.712G>A (p.Ala238Thr) rs779975082 0.00003
NM_000426.4(LAMA2):c.939_940del (p.Cys314fs) rs1209130981 0.00003
NM_000426.4(LAMA2):c.1495C>T (p.Arg499Cys) rs143626559 0.00002
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.3279C>T (p.Cys1093=) rs371376404 0.00002
NM_000426.4(LAMA2):c.4176+1G>A rs1404492484 0.00002
NM_000426.4(LAMA2):c.4188G>A (p.Pro1396=) rs369076029 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.5593C>T (p.Pro1865Ser) rs563638833 0.00002
NM_000426.4(LAMA2):c.6429+1G>T rs1262029350 0.00002
NM_000426.4(LAMA2):c.6786G>A (p.Ser2262=) rs398123382 0.00002
NM_000426.4(LAMA2):c.7231G>A (p.Val2411Ile) rs199814707 0.00002
NM_000426.4(LAMA2):c.7377dup (p.Leu2460fs) rs749566145 0.00002
NM_000426.4(LAMA2):c.7630A>G (p.Ile2544Val) rs147430700 0.00002
NM_000426.4(LAMA2):c.7658del (p.Ser2553fs) rs1293303410 0.00002
NM_000426.4(LAMA2):c.848T>C (p.Val283Ala) rs376917587 0.00002
NM_000426.4(LAMA2):c.9014C>T (p.Ala3005Val) rs75048006 0.00002
NM_000426.4(LAMA2):c.112+1G>A rs398123367 0.00001
NM_000426.4(LAMA2):c.1303C>T (p.Arg435Ter) rs773209126 0.00001
NM_000426.4(LAMA2):c.1364G>A (p.Arg455Gln) rs201177178 0.00001
NM_000426.4(LAMA2):c.1782+2dup rs1272011145 0.00001
NM_000426.4(LAMA2):c.1854_1861dup (p.Leu621fs) rs202247791 0.00001
NM_000426.4(LAMA2):c.2037G>C (p.Ala679=) rs398123369 0.00001
NM_000426.4(LAMA2):c.2089A>G (p.Ile697Val) rs778059153 0.00001
NM_000426.4(LAMA2):c.2176T>C (p.Cys726Arg) rs920771326 0.00001
NM_000426.4(LAMA2):c.2322+1G>C rs945091158 0.00001
NM_000426.4(LAMA2):c.2323-1G>T rs1278823424 0.00001
NM_000426.4(LAMA2):c.2375T>C (p.Phe792Ser) rs398123370 0.00001
NM_000426.4(LAMA2):c.2451-1del rs767784355 0.00001
NM_000426.4(LAMA2):c.2451-6A>G rs896691971 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.3019C>T (p.Gln1007Ter) rs752094219 0.00001
NM_000426.4(LAMA2):c.307A>G (p.Ile103Val) rs369978622 0.00001
NM_000426.4(LAMA2):c.3110T>C (p.Ile1037Thr) rs797045679 0.00001
NM_000426.4(LAMA2):c.329G>A (p.Trp110Ter) rs1441933780 0.00001
NM_000426.4(LAMA2):c.3444C>A (p.Cys1148Ter) rs1383756739 0.00001
NM_000426.4(LAMA2):c.3508G>A (p.Gly1170Ser) rs747246881 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.3803C>T (p.Ser1268Phe) rs776042035 0.00001
NM_000426.4(LAMA2):c.3861C>T (p.Ile1287=) rs138702650 0.00001
NM_000426.4(LAMA2):c.396+1G>T rs770617208 0.00001
NM_000426.4(LAMA2):c.4107_4109del (p.Met1370del) rs1446213044 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.443G>A (p.Arg148Gln) rs148103319 0.00001
NM_000426.4(LAMA2):c.4640C>T (p.Thr1547Met) rs778106503 0.00001
NM_000426.4(LAMA2):c.4645C>T (p.Arg1549Ter) rs121913575 0.00001
NM_000426.4(LAMA2):c.4699G>A (p.Glu1567Lys) rs371388948 0.00001
NM_000426.4(LAMA2):c.4858A>T (p.Lys1620Ter) rs762342110 0.00001
NM_000426.4(LAMA2):c.5072-3C>A rs759155854 0.00001
NM_000426.4(LAMA2):c.5234+1G>A rs781376927 0.00001
NM_000426.4(LAMA2):c.5285G>A (p.Arg1762Gln) rs138296015 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.5938G>A (p.Glu1980Lys) rs769574222 0.00001
NM_000426.4(LAMA2):c.6269-820A>G rs544696321 0.00001
NM_000426.4(LAMA2):c.6269-855A>T rs1554297879 0.00001
NM_000426.4(LAMA2):c.6269-856C>G rs763589558 0.00001
NM_000426.4(LAMA2):c.6520G>A (p.Val2174Ile) rs566853691 0.00001
NM_000426.4(LAMA2):c.6599G>A (p.Arg2200His) rs779326725 0.00001
NM_000426.4(LAMA2):c.6624G>C (p.Trp2208Cys) rs1294289973 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.7074C>A (p.Tyr2358Ter) rs762806915 0.00001
NM_000426.4(LAMA2):c.716G>A (p.Arg239His) rs776777494 0.00001
NM_000426.4(LAMA2):c.7283C>G (p.Ser2428Ter) rs776104105 0.00001
NM_000426.4(LAMA2):c.7369A>C (p.Asn2457His) rs797045680 0.00001
NM_000426.4(LAMA2):c.7526T>A (p.Leu2509His) rs578183193 0.00001
NM_000426.4(LAMA2):c.7553C>A (p.Thr2518Asn) rs1313279253 0.00001
NM_000426.4(LAMA2):c.7572+1G>A rs1554305006 0.00001
NM_000426.4(LAMA2):c.7691T>C (p.Leu2564Pro) rs121913570 0.00001
NM_000426.4(LAMA2):c.7898+12A>G rs572960610 0.00001
NM_000426.4(LAMA2):c.8244+1G>A rs749522728 0.00001
NM_000426.4(LAMA2):c.8398G>A (p.Gly2800Ser) rs758491978 0.00001
NM_000426.4(LAMA2):c.8536C>T (p.Gln2846Ter) rs1463264889 0.00001
NM_000426.4(LAMA2):c.9217C>T (p.Leu3073Phe) rs1315125567 0.00001
NM_000426.4(LAMA2):c.9295A>T (p.Lys3099Ter) rs749797580 0.00001
NC_000006.12:g.128960376_129175759del
NM_000426.3(LAMA2):c.6993_7155del163 (p.Ser2331Argfs) rs1554301637
NM_000426.3(LAMA2):c.[2049_2050delAG];[523G>T]
NM_000426.3(LAMA2):c.[2461A>C;8282T>C]
NM_000426.3(LAMA2):c.[7691T>C];[9253C>T]
NM_000426.4(LAMA2):c.1011del (p.Thr339fs)
NM_000426.4(LAMA2):c.1027+1G>T rs1064797327
NM_000426.4(LAMA2):c.1051G>T (p.Glu351Ter) rs1778991422
NM_000426.4(LAMA2):c.1065T>A (p.Tyr355Ter) rs1436470033
NM_000426.4(LAMA2):c.106C>T (p.Gln36Ter) rs1360796756
NM_000426.4(LAMA2):c.1097T>A (p.Leu366Ter)
NM_000426.4(LAMA2):c.112+1G>T
NM_000426.4(LAMA2):c.1121_1129delinsTACTT (p.Gly374fs)
NM_000426.4(LAMA2):c.1122del (p.Gly376fs) rs1338860420
NM_000426.4(LAMA2):c.113-2A>C
NM_000426.4(LAMA2):c.113-639del rs1787824675
NM_000426.4(LAMA2):c.1188dup (p.Phe397fs)
NM_000426.4(LAMA2):c.1195_1198del (p.Arg399fs)
NM_000426.4(LAMA2):c.1206G>C (p.Gly402=) rs1167723109
NM_000426.4(LAMA2):c.1207-1G>A
NM_000426.4(LAMA2):c.1233C>A (p.Cys411Ter)
NM_000426.4(LAMA2):c.1255del (p.Ile419fs) rs1185229314
NM_000426.4(LAMA2):c.1263del (p.Ser421_Leu422insTer) rs1779702214
NM_000426.4(LAMA2):c.1278T>A (p.Cys426Ter) rs1779703136
NM_000426.4(LAMA2):c.1282_1283dup (p.Asp429fs) rs2114993311
NM_000426.4(LAMA2):c.1289_1290insT (p.Glu430fs)
NM_000426.4(LAMA2):c.1306+2T>G rs1326401124
NM_000426.4(LAMA2):c.1307-1G>A rs1554234051
NM_000426.4(LAMA2):c.1307-2A>G
NM_000426.4(LAMA2):c.1358G>C (p.Cys453Ser) rs1554234086
NM_000426.4(LAMA2):c.1365del (p.Cys456fs)
NM_000426.4(LAMA2):c.1415_1429del (p.Ser472_Ser476del) rs1554234118
NM_000426.4(LAMA2):c.1429A>T (p.Lys477Ter)
NM_000426.4(LAMA2):c.1454C>T (p.Pro485Leu) rs146522136
NM_000426.4(LAMA2):c.1464C>A (p.Cys488Ter) rs1780700010
NM_000426.4(LAMA2):c.1467+2T>C rs1554234163
NM_000426.4(LAMA2):c.1490_1491del (p.Asp496_Cys497insTer)
NM_000426.4(LAMA2):c.1522C>T (p.Gln508Ter)
NM_000426.4(LAMA2):c.1533_1534insG (p.Trp512fs)
NM_000426.4(LAMA2):c.155T>G (p.Ile52Ser) rs1380745222
NM_000426.4(LAMA2):c.1560T>A (p.Cys520Ter) rs1781455687
NM_000426.4(LAMA2):c.1561_1562del (p.Ser521fs)
NM_000426.4(LAMA2):c.1612C>T (p.Gln538Ter) rs1781592001
NM_000426.4(LAMA2):c.1629G>A (p.Trp543Ter)
NM_000426.4(LAMA2):c.1638_1641del (p.Asp547fs)
NM_000426.4(LAMA2):c.1657C>T (p.Arg553Ter) rs1303773212
NM_000426.4(LAMA2):c.1669CAG[1] (p.Gln558del) rs775570308
NM_000426.4(LAMA2):c.1669del (p.Gln557fs)
NM_000426.4(LAMA2):c.1682_1688del (p.Leu561fs)
NM_000426.4(LAMA2):c.1686_1687insA (p.Ser563fs)
NM_000426.4(LAMA2):c.16_49del (p.Gly6fs)
NM_000426.4(LAMA2):c.1727_1767del (p.Gln576fs) rs1583219849
NM_000426.4(LAMA2):c.172T>C (p.Cys58Arg) rs1731993495
NM_000426.4(LAMA2):c.1749C>G (p.Tyr583Ter)
NM_000426.4(LAMA2):c.1752G>A (p.Trp584Ter) rs1781606569
NM_000426.4(LAMA2):c.1755C>T (p.Ser585=) rs1012171328
NM_000426.4(LAMA2):c.176G>A (p.Gly59Glu) rs748303070
NM_000426.4(LAMA2):c.1782_1782+1delinsT
NM_000426.4(LAMA2):c.1793_1795del (p.Val598del) rs1165542235
NM_000426.4(LAMA2):c.1795GGA[1] (p.Gly600del) rs753417521
NM_000426.4(LAMA2):c.1823_1824del (p.Ser607_Tyr608insTer)
NM_000426.4(LAMA2):c.1831G>T (p.Glu611Ter) rs1786068382
NM_000426.4(LAMA2):c.1834G>T (p.Glu612Ter) rs1786068836
NM_000426.4(LAMA2):c.183del (p.Gly62fs)
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.1893_1897del (p.Asp631fs) rs746844753
NM_000426.4(LAMA2):c.190G>T (p.Glu64Ter) rs1231305572
NM_000426.4(LAMA2):c.1929_1931delinsT (p.His644fs)
NM_000426.4(LAMA2):c.1942G>T (p.Glu648Ter) rs1786301728
NM_000426.4(LAMA2):c.1973_1991delinsTAA (p.Glu658fs)
NM_000426.4(LAMA2):c.1976C>A (p.Ser659Ter)
NM_000426.4(LAMA2):c.198C>A (p.Tyr66Ter) rs1042843028
NM_000426.4(LAMA2):c.2006_2012del (p.Val669fs)
NM_000426.4(LAMA2):c.2044A>T (p.Lys682Ter) rs1786309995
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs) rs202247790
NM_000426.4(LAMA2):c.2054T>C (p.Leu685Pro) rs746641607
NM_000426.4(LAMA2):c.2069A>G (p.Tyr690Cys) rs2114287747
NM_000426.4(LAMA2):c.2096+1G>A rs1554256965
NM_000426.4(LAMA2):c.2116G>T (p.Glu706Ter) rs1787059737
NM_000426.4(LAMA2):c.2164G>A (p.Glu722Lys)
NM_000426.4(LAMA2):c.2166dup (p.Val723fs)
NM_000426.4(LAMA2):c.21CCT[4] (p.Leu13dup) rs1347823295
NM_000426.4(LAMA2):c.2217G>A (p.Trp739Ter) rs192317605
NM_000426.4(LAMA2):c.2230C>T (p.Arg744Ter) rs775676341
NM_000426.4(LAMA2):c.2233dup (p.Val745fs)
NM_000426.4(LAMA2):c.2323-1G>A rs1278823424
NM_000426.4(LAMA2):c.2323-2A>T
NM_000426.4(LAMA2):c.2328T>A (p.Cys776Ter) rs1787862380
NM_000426.4(LAMA2):c.2348del (p.Pro783fs)
NM_000426.4(LAMA2):c.2350dup (p.Tyr784fs) rs1554260284
NM_000426.4(LAMA2):c.2383G>T (p.Glu795Ter)
NM_000426.4(LAMA2):c.2395G>T (p.Gly799Ter)
NM_000426.4(LAMA2):c.2400_2401insAGGAAGACATTTA (p.Ser801fs)
NM_000426.4(LAMA2):c.2404G>T (p.Glu802Ter)
NM_000426.4(LAMA2):c.2450+5_2450+8del rs1554260313
NM_000426.4(LAMA2):c.2461A>C (p.Thr821Pro) rs186538779
NM_000426.4(LAMA2):c.2461_2476del (p.Thr821fs)
NM_000426.4(LAMA2):c.2471T>A (p.Leu824Ter)
NM_000426.4(LAMA2):c.2514del (p.Tyr839fs)
NM_000426.4(LAMA2):c.2521G>T (p.Gly841Ter)
NM_000426.4(LAMA2):c.2537+1G>C
NM_000426.4(LAMA2):c.2556del (p.Phe852fs) rs750731624
NM_000426.4(LAMA2):c.2557G>T (p.Gly853Ter) rs1789386860
NM_000426.4(LAMA2):c.2587C>T (p.Gln863Ter) rs897845923
NM_000426.4(LAMA2):c.2658T>A (p.Cys886Ter) rs1789395190
NM_000426.4(LAMA2):c.2670del (p.Lys890fs)
NM_000426.4(LAMA2):c.2703T>A (p.Cys901Ter) rs1789398455
NM_000426.4(LAMA2):c.2710G>T (p.Gly904Ter) rs1789399141
NM_000426.4(LAMA2):c.2718del (p.Phe906fs)
NM_000426.4(LAMA2):c.2719G>T (p.Gly907Ter) rs1789399872
NM_000426.4(LAMA2):c.2723del (p.Asp908fs)
NM_000426.4(LAMA2):c.2749+1G>A rs759555791
NM_000426.4(LAMA2):c.2768_2771dup (p.Ser925fs)
NM_000426.4(LAMA2):c.2776_2782del (p.Phe926fs)
NM_000426.4(LAMA2):c.2783_2784del (p.Glu928fs)
NM_000426.4(LAMA2):c.2788del (p.Cys930fs)
NM_000426.4(LAMA2):c.2790C>A (p.Cys930Ter)
NM_000426.4(LAMA2):c.2803G>T (p.Gly935Ter)
NM_000426.4(LAMA2):c.2811T>A (p.Cys937Ter)
NM_000426.4(LAMA2):c.2811_2812del (p.Cys937_Glu938delinsTer)
NM_000426.4(LAMA2):c.283+2T>A
NM_000426.4(LAMA2):c.2833G>A (p.Gly945Ser) rs372574661
NM_000426.4(LAMA2):c.283C>T (p.Gln95Ter) rs1018100729
NM_000426.4(LAMA2):c.2856+1G>C
NM_000426.4(LAMA2):c.286A>T (p.Arg96Ter)
NM_000426.4(LAMA2):c.2879C>G (p.Ser960Ter)
NM_000426.4(LAMA2):c.2916del (p.Phe972fs)
NM_000426.4(LAMA2):c.2937_2938del (p.Cys979_Glu980delinsTer)
NM_000426.4(LAMA2):c.2950C>T (p.Gln984Ter) rs1773282962
NM_000426.4(LAMA2):c.2957G>A (p.Trp986Ter) rs1773283278
NM_000426.4(LAMA2):c.2962C>T (p.Gln988Ter) rs398123371
NM_000426.4(LAMA2):c.2968G>T (p.Gly990Ter) rs1187391940
NM_000426.4(LAMA2):c.3033C>A (p.Cys1011Ter)
NM_000426.4(LAMA2):c.3037+1G>T rs1773291512
NM_000426.4(LAMA2):c.3089_3126dup (p.Lys1043fs) rs2114460969
NM_000426.4(LAMA2):c.30_32del (p.Leu13del) rs1278217420
NM_000426.4(LAMA2):c.3123T>A (p.Cys1041Ter) rs1773502803
NM_000426.4(LAMA2):c.3139_3140insT (p.Asn1047fs)
NM_000426.4(LAMA2):c.3172A>T (p.Lys1058Ter) rs1583447808
NM_000426.4(LAMA2):c.3186C>A (p.Cys1062Ter) rs1774316033
NM_000426.4(LAMA2):c.3232C>T (p.Gln1078Ter) rs2114493974
NM_000426.4(LAMA2):c.3235T>C (p.Cys1079Arg) rs1583469739
NM_000426.4(LAMA2):c.3243T>A (p.Cys1081Ter) rs944013929
NM_000426.4(LAMA2):c.3270T>A (p.Cys1090Ter) rs1774323015
NM_000426.4(LAMA2):c.3283C>T (p.Arg1095Ter) rs376088608
NM_000426.4(LAMA2):c.3290_3291del (p.His1097fs)
NM_000426.4(LAMA2):c.3294del (p.His1097_Trp1098insTer) rs764839142
NM_000426.4(LAMA2):c.3296A>G (p.Asn1099Ser) rs35065563
NM_000426.4(LAMA2):c.32T>C (p.Leu11Pro) rs730880252
NM_000426.4(LAMA2):c.3329del (p.Leu1110fs) rs1583470073
NM_000426.4(LAMA2):c.3409A>T (p.Lys1137Ter)
NM_000426.4(LAMA2):c.3412-2A>C rs1562449164
NM_000426.4(LAMA2):c.3421del (p.Glu1141fs)
NM_000426.4(LAMA2):c.3454A>T (p.Lys1152Ter) rs1774465781
NM_000426.4(LAMA2):c.3556-1G>C rs2114501078
NM_000426.4(LAMA2):c.3562_3563del (p.Leu1188fs) rs1583475938
NM_000426.4(LAMA2):c.3623_3645del (p.Lys1208fs) rs727503992
NM_000426.4(LAMA2):c.3630del (p.Ile1210fs) rs398123372
NM_000426.4(LAMA2):c.3704G>A (p.Trp1235Ter) rs1774541313
NM_000426.4(LAMA2):c.3705G>A (p.Trp1235Ter)
NM_000426.4(LAMA2):c.370G>T (p.Val124Leu) rs1278777348
NM_000426.4(LAMA2):c.3718C>T (p.Gln1240Ter) rs121913569
NM_000426.4(LAMA2):c.3735+1G>A
NM_000426.4(LAMA2):c.3736-2A>G rs372715292
NM_000426.4(LAMA2):c.3799_3821del (p.Phe1267fs) rs750220830
NM_000426.4(LAMA2):c.3886_3889del (p.Ile1296fs) rs1774572282
NM_000426.4(LAMA2):c.3896T>A (p.Leu1299Ter)
NM_000426.4(LAMA2):c.389del (p.Leu130fs)
NM_000426.4(LAMA2):c.3924+2T>C rs1554269966
NM_000426.4(LAMA2):c.3938del (p.Tyr1313fs) rs2114502928
NM_000426.4(LAMA2):c.3955C>T (p.Arg1319Ter) rs1180309541
NM_000426.4(LAMA2):c.397-4_478del rs1554217494
NM_000426.4(LAMA2):c.3982del (p.Asp1328fs)
NM_000426.4(LAMA2):c.4019_4024dup (p.Ile1341_Lys1342insIleIle) rs1554270059
NM_000426.4(LAMA2):c.4058+1G>A rs2114503272
NM_000426.4(LAMA2):c.4097_4112del (p.Arg1366fs)
NM_000426.4(LAMA2):c.4106del (p.Thr1369fs)
NM_000426.4(LAMA2):c.4110delinsTTTTT (p.Met1370fs)
NM_000426.4(LAMA2):c.4140T>A (p.Cys1380Ter) rs1774908660
NM_000426.4(LAMA2):c.4146T>A (p.Cys1382Ter) rs1774908820
NM_000426.4(LAMA2):c.4167_4170del (p.Ser1390fs)
NM_000426.4(LAMA2):c.4198C>T (p.Arg1400Ter) rs775112258
NM_000426.4(LAMA2):c.4232G>A (p.Gly1411Glu) rs727502850
NM_000426.4(LAMA2):c.424A>T (p.Lys142Ter) rs1775300950
NM_000426.4(LAMA2):c.4255_4258dup (p.Cys1420fs) rs2114532990
NM_000426.4(LAMA2):c.4285dup (p.Cys1429fs)
NM_000426.4(LAMA2):c.4294G>T (p.Glu1432Ter)
NM_000426.4(LAMA2):c.4319_4323del (p.Gln1440fs)
NM_000426.4(LAMA2):c.4378A>T (p.Lys1460Ter) rs1776319116
NM_000426.4(LAMA2):c.437C>A (p.Ser146Tyr) rs143680577
NM_000426.4(LAMA2):c.437C>T (p.Ser146Phe) rs143680577
NM_000426.4(LAMA2):c.4397_4398del (p.Cys1466fs)
NM_000426.4(LAMA2):c.442del (p.Arg148fs)
NM_000426.4(LAMA2):c.442dup (p.Arg148fs) rs1775302275
NM_000426.4(LAMA2):c.4436+1G>C rs376430565
NM_000426.4(LAMA2):c.4446del (p.Ser1483fs)
NM_000426.4(LAMA2):c.4459G>T (p.Glu1487Ter) rs1776730034
NM_000426.4(LAMA2):c.4468GAC[1] (p.Asp1491del) rs1554277753
NM_000426.4(LAMA2):c.4477C>T (p.Arg1493Cys) rs751053800
NM_000426.4(LAMA2):c.4504G>T (p.Glu1502Ter)
NM_000426.4(LAMA2):c.4517G>C (p.Cys1506Ser) rs1409043489
NM_000426.4(LAMA2):c.4523G>A (p.Arg1508Lys) rs770084568
NM_000426.4(LAMA2):c.4524-2A>T rs1554278541
NM_000426.4(LAMA2):c.4561G>T (p.Gly1521Ter) rs1776953529
NM_000426.4(LAMA2):c.4573C>T (p.Gln1525Ter) rs1776953853
NM_000426.4(LAMA2):c.4576G>T (p.Glu1526Ter)
NM_000426.4(LAMA2):c.4601C>A (p.Ser1534Ter) rs917205971
NM_000426.4(LAMA2):c.4630G>T (p.Gly1544Ter) rs374207670
NM_000426.4(LAMA2):c.4660_4668del (p.Gly1554_Lys1556del) rs1554278670
NM_000426.4(LAMA2):c.4682del (p.Lys1561fs) rs1246940477
NM_000426.4(LAMA2):c.4692_4695dup (p.Arg1566fs) rs774051471
NM_000426.4(LAMA2):c.4717+1G>C rs1131691660
NM_000426.4(LAMA2):c.4717+1G>T rs1131691660
NM_000426.4(LAMA2):c.4717+5G>A rs776050258
NM_000426.4(LAMA2):c.4739dup (p.Leu1581fs) rs1392196900
NM_000426.4(LAMA2):c.4743TCT[1] (p.Leu1583del) rs1554281282
NM_000426.4(LAMA2):c.4752_4753del (p.Asp1585fs)
NM_000426.4(LAMA2):c.476ATG[1] (p.Asp160del) rs1192484658
NM_000426.4(LAMA2):c.4819_4825del (p.Lys1607fs)
NM_000426.4(LAMA2):c.4837G>T (p.Glu1613Ter) rs1247084547
NM_000426.4(LAMA2):c.4861-2A>G rs2114627220
NM_000426.4(LAMA2):c.4861del (p.His1621fs)
NM_000426.4(LAMA2):c.4874C>T (p.Pro1625Leu)
NM_000426.4(LAMA2):c.4878del (p.Gln1626fs)
NM_000426.4(LAMA2):c.4886dup (p.Glu1630fs)
NM_000426.4(LAMA2):c.4913delinsAATAAAGAGAGACAGCA (p.Gly1638delinsGluTer)
NM_000426.4(LAMA2):c.4936G>T (p.Glu1646Ter) rs748541803
NM_000426.4(LAMA2):c.4945G>C (p.Glu1649Gln) rs143215851
NM_000426.4(LAMA2):c.4959+1del rs1583591577
NM_000426.4(LAMA2):c.498G>A (p.Trp166Ter) rs553221833
NM_000426.4(LAMA2):c.4993G>T (p.Gly1665Ter) rs373997222
NM_000426.4(LAMA2):c.4996C>T (p.Gln1666Ter) rs2114654019
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.5062del (p.Asp1688fs)
NM_000426.4(LAMA2):c.507_508insCAAGAGA (p.Ala170fs)
NM_000426.4(LAMA2):c.5085dup (p.Ala1696fs) rs1351661862
NM_000426.4(LAMA2):c.5092A>T (p.Lys1698Ter) rs1779318396
NM_000426.4(LAMA2):c.512_513del (p.Val171fs)
NM_000426.4(LAMA2):c.5155A>T (p.Lys1719Ter) rs1779323338
NM_000426.4(LAMA2):c.5156_5159del (p.Lys1719fs) rs1554286963
NM_000426.4(LAMA2):c.5169GAT[1] (p.Met1724del) rs1554286976
NM_000426.4(LAMA2):c.5181A>C (p.Glu1727Asp) rs1779325827
NM_000426.4(LAMA2):c.5184del (p.Arg1729fs)
NM_000426.4(LAMA2):c.5235-18G>A rs188365084
NM_000426.4(LAMA2):c.5235-1G>A rs1779406142
NM_000426.4(LAMA2):c.5259del (p.Lys1753_Val1754insTer) rs1211739649
NM_000426.4(LAMA2):c.5266A>T (p.Lys1756Ter) rs2114674584
NM_000426.4(LAMA2):c.5274del (p.Phe1758fs)
NM_000426.4(LAMA2):c.5284dup (p.Arg1762fs)
NM_000426.4(LAMA2):c.5290dup (p.Glu1764fs) rs1415944134
NM_000426.4(LAMA2):c.5325dup (p.Leu1776fs) rs768458445
NM_000426.4(LAMA2):c.5342del (p.Asn1781fs)
NM_000426.4(LAMA2):c.5374G>T (p.Glu1792Ter) rs746201268
NM_000426.4(LAMA2):c.5443G>C (p.Glu1815Gln) rs1554287445
NM_000426.4(LAMA2):c.5445+1G>A rs1779423047
NM_000426.4(LAMA2):c.5449AAG[1] (p.Lys1818del) rs1225610123
NM_000426.4(LAMA2):c.5530C>A (p.Arg1844Ser) rs56173620
NM_000426.4(LAMA2):c.5563-1G>A
NM_000426.4(LAMA2):c.5563-2A>G rs786204779
NM_000426.4(LAMA2):c.5568_5569delinsA (p.Glu1857fs)
NM_000426.4(LAMA2):c.5578C>T (p.Gln1860Ter) rs1165626901
NM_000426.4(LAMA2):c.5598G>T (p.Met1866Ile) rs1554289926
NM_000426.4(LAMA2):c.5665_5667del (p.Lys1889del) rs767066183
NM_000426.4(LAMA2):c.5673_5674del (p.Gln1892fs)
NM_000426.4(LAMA2):c.5674C>T (p.Gln1892Ter) rs1462522184
NM_000426.4(LAMA2):c.569C>A (p.Ser190Ter) rs1775311864
NM_000426.4(LAMA2):c.5836A>T (p.Lys1946Ter)
NM_000426.4(LAMA2):c.5851G>T (p.Glu1951Ter)
NM_000426.4(LAMA2):c.5865+2T>G rs1554290316
NM_000426.4(LAMA2):c.5866-1G>A rs1064797040
NM_000426.4(LAMA2):c.5866-2A>G rs1554295204
NM_000426.4(LAMA2):c.5913_5914del (p.Gln1972fs)
NM_000426.4(LAMA2):c.5944A>T (p.Lys1982Ter) rs1781398399
NM_000426.4(LAMA2):c.5954_5962dup (p.Ala1985_Asp1987dup) rs1554295259
NM_000426.4(LAMA2):c.595T>A (p.Cys199Ser) rs886043693
NM_000426.4(LAMA2):c.602C>A (p.Ser201Ter) rs1775313883
NM_000426.4(LAMA2):c.6030_6031del (p.Asp2011fs)
NM_000426.4(LAMA2):c.6103C>T (p.Gln2035Ter)
NM_000426.4(LAMA2):c.611C>A (p.Ser204Tyr) rs1204310516
NM_000426.4(LAMA2):c.6146_6147del (p.Lys2049fs)
NM_000426.4(LAMA2):c.6147del (p.Asp2050fs)
NM_000426.4(LAMA2):c.6195GAA[2] (p.Lys2067del) rs758495000
NM_000426.4(LAMA2):c.6196A>T (p.Lys2066Ter) rs1583756552
NM_000426.4(LAMA2):c.61C>T (p.Gln21Ter) rs886061039
NM_000426.4(LAMA2):c.6232A>T (p.Lys2078Ter)
NM_000426.4(LAMA2):c.6248_6249del (p.Val2083fs)
NM_000426.4(LAMA2):c.6260C>A (p.Ser2087Tyr) rs1299914386
NM_000426.4(LAMA2):c.6262A>T (p.Lys2088Ter) rs1782086229
NM_000426.4(LAMA2):c.6269-831C>T rs371162111
NM_000426.4(LAMA2):c.6269-845C>T rs1554297888
NM_000426.4(LAMA2):c.6269-848T>A rs1554297884
NM_000426.4(LAMA2):c.6269-848T>C rs1554297884
NM_000426.4(LAMA2):c.6269-849C>T rs1554297881
NM_000426.4(LAMA2):c.6269-852A>C rs766496312
NM_000426.4(LAMA2):c.6269-855A>C rs1554297879
NM_000426.4(LAMA2):c.6269-855A>G rs1554297879
NM_000426.4(LAMA2):c.6305T>G (p.Leu2102Ter) rs1782333085
NM_000426.4(LAMA2):c.637G>T (p.Glu213Ter) rs1775315900
NM_000426.4(LAMA2):c.640-6127A>G
NM_000426.4(LAMA2):c.6429+1G>C rs1262029350
NM_000426.4(LAMA2):c.6449C>A (p.Ser2150Ter) rs1782761474
NM_000426.4(LAMA2):c.6466C>T (p.Arg2156Ter) rs922640025
NM_000426.4(LAMA2):c.6488del (p.Lys2163fs) rs886039482
NM_000426.4(LAMA2):c.6510TGT[1] (p.Val2172del) rs1363017615
NM_000426.4(LAMA2):c.6551T>C (p.Phe2184Ser) rs398123381
NM_000426.4(LAMA2):c.6560del (p.Gly2187fs)
NM_000426.4(LAMA2):c.6573+1G>A rs757435241
NM_000426.4(LAMA2):c.6573+1G>T rs757435241
NM_000426.4(LAMA2):c.6623G>A (p.Trp2208Ter)
NM_000426.4(LAMA2):c.6636_6637del (p.Gly2213fs)
NM_000426.4(LAMA2):c.6643G>T (p.Gly2215Ter)
NM_000426.4(LAMA2):c.6687G>A (p.Trp2229Ter)
NM_000426.4(LAMA2):c.6690C>A (p.Tyr2230Ter) rs1583790201
NM_000426.4(LAMA2):c.6714_6722del (p.Arg2239_Gly2241del) rs2114794775
NM_000426.4(LAMA2):c.6752C>A (p.Pro2251His) rs546395293
NM_000426.4(LAMA2):c.6919_6920del (p.Tyr2307fs) rs757404275
NM_000426.4(LAMA2):c.691G>T (p.Glu231Ter) rs1778273068
NM_000426.4(LAMA2):c.6948G>A (p.Trp2316Ter)
NM_000426.4(LAMA2):c.6992+5G>A rs1221715098
NM_000426.4(LAMA2):c.7003del (p.Glu2335fs)
NM_000426.4(LAMA2):c.7126_7127insA (p.Leu2376fs)
NM_000426.4(LAMA2):c.7142delinsGT (p.Ala2381fs)
NM_000426.4(LAMA2):c.7147C>T (p.Arg2383Ter) rs121913576
NM_000426.4(LAMA2):c.7215_7217delinsA (p.Ser2406fs)
NM_000426.4(LAMA2):c.7266G>A (p.Trp2422Ter) rs1783482812
NM_000426.4(LAMA2):c.7279_7280del (p.Leu2427fs) rs398123385
NM_000426.4(LAMA2):c.7280_7283del (p.Leu2427fs)
NM_000426.4(LAMA2):c.7286_7288del (p.Arg2429del) rs1350705904
NM_000426.4(LAMA2):c.728T>C (p.Leu243Pro) rs1562273395
NM_000426.4(LAMA2):c.7296del (p.Lys2432fs)
NM_000426.4(LAMA2):c.7301-1G>A
NM_000426.4(LAMA2):c.731_732del (p.Arg244fs)
NM_000426.4(LAMA2):c.7339G>T (p.Glu2447Ter) rs1377818460
NM_000426.4(LAMA2):c.7374del (p.Phe2458fs)
NM_000426.4(LAMA2):c.7390_7391delinsTT (p.Ala2464Leu) rs1554303509
NM_000426.4(LAMA2):c.7444A>T (p.Lys2482Ter) rs1554303937
NM_000426.4(LAMA2):c.7452-16T>G
NM_000426.4(LAMA2):c.7452-1G>A rs1554304931
NM_000426.4(LAMA2):c.7473A>G (p.Lys2491=) rs886038295
NM_000426.4(LAMA2):c.7489A>T (p.Lys2497Ter)
NM_000426.4(LAMA2):c.7490_7493dup (p.Asp2498fs) rs1480934961
NM_000426.4(LAMA2):c.7578_7579del (p.Tyr2527fs)
NM_000426.4(LAMA2):c.7583_7584del (p.Thr2528fs)
NM_000426.4(LAMA2):c.7621_7622insTA (p.Pro2541fs)
NM_000426.4(LAMA2):c.7630del (p.Ile2544fs) rs1784335277
NM_000426.4(LAMA2):c.7658C>A (p.Ser2553Ter)
NM_000426.4(LAMA2):c.7675G>T (p.Glu2559Ter)
NM_000426.4(LAMA2):c.7692_7693insA (p.Leu2565fs)
NM_000426.4(LAMA2):c.7700G>C (p.Ser2567Thr) rs1554305929
NM_000426.4(LAMA2):c.7749+1G>C
NM_000426.4(LAMA2):c.7750-1713_7899-2153del
NM_000426.4(LAMA2):c.7750-2A>G rs778539477
NM_000426.4(LAMA2):c.7771_7772delinsT (p.Asn2591fs)
NM_000426.4(LAMA2):c.7778del (p.Gly2593fs) rs2114848887
NM_000426.4(LAMA2):c.77AGC[4] (p.Gln28dup) rs1554312698
NM_000426.4(LAMA2):c.77AGC[5] (p.Gln27_Gln28dup) rs1554312698
NM_000426.4(LAMA2):c.7810C>T (p.Arg2604Ter) rs766920075
NM_000426.4(LAMA2):c.781A>T (p.Lys261Ter) rs781316719
NM_000426.4(LAMA2):c.7834A>T (p.Arg2612Ter)
NM_000426.4(LAMA2):c.7870_7871dup (p.Ser2625fs) rs2114849148
NM_000426.4(LAMA2):c.7881T>G (p.His2627Gln) rs202247792
NM_000426.4(LAMA2):c.7888C>T (p.Arg2630Ter) rs727502851
NM_000426.4(LAMA2):c.7898+1G>A rs1784599832
NM_000426.4(LAMA2):c.7899-1G>C
NM_000426.4(LAMA2):c.790A>T (p.Arg264Ter) rs1778283565
NM_000426.4(LAMA2):c.7912C>T (p.Gln2638Ter) rs1784882494
NM_000426.4(LAMA2):c.7933_7941del (p.Tyr2645_Gln2647del) rs762065775
NM_000426.4(LAMA2):c.7976del (p.Lys2659fs)
NM_000426.4(LAMA2):c.7991del (p.Gly2664fs) rs886039541
NM_000426.4(LAMA2):c.8008C>T (p.Gln2670Ter) rs1784888496
NM_000426.4(LAMA2):c.8075+1G>A rs1055407857
NM_000426.4(LAMA2):c.8075+2dup rs2114859967
NM_000426.4(LAMA2):c.8076-1G>A rs1554310169
NM_000426.4(LAMA2):c.8079dup (p.Met2694fs)
NM_000426.4(LAMA2):c.8096del (p.Pro2699fs) rs1784912657
NM_000426.4(LAMA2):c.8155G>T (p.Glu2719Ter) rs1289855948
NM_000426.4(LAMA2):c.8169_8173del (p.Ala2723_Pro2724insTer) rs1554310242
NM_000426.4(LAMA2):c.817A>T (p.Arg273Ter) rs886043648
NM_000426.4(LAMA2):c.8188C>T (p.Gln2730Ter) rs1784919273
NM_000426.4(LAMA2):c.819+1G>A rs1554226186
NM_000426.4(LAMA2):c.819+2dup rs765817742
NM_000426.4(LAMA2):c.820-1G>A rs1370654793
NM_000426.4(LAMA2):c.8206_8209del (p.Thr2736fs)
NM_000426.4(LAMA2):c.8244+2dup rs1554310330
NM_000426.4(LAMA2):c.8244+3_8244+6del rs746678525
NM_000426.4(LAMA2):c.8245-2A>G rs914395925
NM_000426.4(LAMA2):c.8256del (p.Ala2753fs)
NM_000426.4(LAMA2):c.825del (p.Tyr276fs) rs1562275792
NM_000426.4(LAMA2):c.8265del (p.Glu2756fs)
NM_000426.4(LAMA2):c.828C>G (p.Tyr276Ter) rs1028599119
NM_000426.4(LAMA2):c.8377_8383del (p.Val2793fs)
NM_000426.4(LAMA2):c.8380_8383del (p.Arg2794fs) rs2114890786
NM_000426.4(LAMA2):c.8430_8431insAG (p.Ala2811fs)
NM_000426.4(LAMA2):c.8484C>G (p.Asp2828Glu) rs1785788819
NM_000426.4(LAMA2):c.8540G>A (p.Trp2847Ter)
NM_000426.4(LAMA2):c.8542del (p.His2848fs)
NM_000426.4(LAMA2):c.8548-2A>G rs369224209
NM_000426.4(LAMA2):c.8556_8558del (p.Ile2852del) rs398123389
NM_000426.4(LAMA2):c.8591A>T (p.Asp2864Val) rs778258870
NM_000426.4(LAMA2):c.8597_8598insAA (p.Ser2867fs)
NM_000426.4(LAMA2):c.8603dup (p.Asn2868fs)
NM_000426.4(LAMA2):c.8613dup (p.Ser2872fs) rs2114900655
NM_000426.4(LAMA2):c.861C>A (p.Cys287Ter)
NM_000426.4(LAMA2):c.8625dup (p.Ala2876fs)
NM_000426.4(LAMA2):c.8654T>C (p.Leu2885Pro) rs1554316199
NM_000426.4(LAMA2):c.8665G>A (p.Gly2889Arg) rs886039896
NM_000426.4(LAMA2):c.8710_8712dup (p.Tyr2904dup) rs1554317110
NM_000426.4(LAMA2):c.8712T>A (p.Tyr2904Ter)
NM_000426.4(LAMA2):c.8714_8715insGTGACG (p.Ser2905delinsArgTer) rs2114910650
NM_000426.4(LAMA2):c.8716_8717insCCA (p.Ser2905_Ile2906insThr) rs1554317120
NM_000426.4(LAMA2):c.872G>C (p.Gly291Ala) rs1554226736
NM_000426.4(LAMA2):c.872del (p.Gly291fs) rs1222620175
NM_000426.4(LAMA2):c.8768AAC[1] (p.Gln2924del) rs1554317173
NM_000426.4(LAMA2):c.8770C>T (p.Gln2924Ter) rs1034133545
NM_000426.4(LAMA2):c.8781del (p.Ser2928fs)
NM_000426.4(LAMA2):c.8787_8793del (p.Phe2929fs)
NM_000426.4(LAMA2):c.8849_8857+1del
NM_000426.4(LAMA2):c.8858-1G>A rs1554319117
NM_000426.4(LAMA2):c.8876G>C (p.Gly2959Ala) rs1393350402
NM_000426.4(LAMA2):c.8953dup (p.Met2985fs)
NM_000426.4(LAMA2):c.8958_8961del (p.Asp2986fs)
NM_000426.4(LAMA2):c.8979_8982dup (p.Glu2995Ter)
NM_000426.4(LAMA2):c.8989-15T>G rs372370665
NM_000426.4(LAMA2):c.8992_8994dup (p.Met2998dup) rs1437850233
NM_000426.4(LAMA2):c.908dup (p.Asn303fs) rs2114964219
NM_000426.4(LAMA2):c.9095dup (p.Ile3033fs) rs1554320205
NM_000426.4(LAMA2):c.9128G>A (p.Gly3043Glu) rs762958440
NM_000426.4(LAMA2):c.917G>A (p.Arg306His) rs1023922833
NM_000426.4(LAMA2):c.9211+1G>A rs1554320318
NM_000426.4(LAMA2):c.9212-2A>G rs1554321125
NM_000426.4(LAMA2):c.9221del (p.Lys3074fs)
NM_000426.4(LAMA2):c.9223C>T (p.Gln3075Ter) rs771012835
NM_000426.4(LAMA2):c.9227_9243dup (p.Ile3082delinsLeuAlaTer)
NM_000426.4(LAMA2):c.9253C>T (p.Arg3085Ter) rs121913571
NM_000426.4(LAMA2):c.9266_9283dup (p.Arg3089_Thr3094dup) rs1554321180
NM_000426.4(LAMA2):c.938_939del (p.Thr313fs) rs2114967814
NM_000426.4(LAMA2):c.951_952insCT (p.Cys318fs) rs1554227092
NM_000426.4(LAMA2):c.966T>A (p.Cys322Ter)
NM_000426.4(LAMA2):c.987del (p.Trp330fs)
NM_000426.4:c.(6992+1_6993-1)_(7300+1_7301-1)del

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.