ClinVar Miner

List of variants in gene LAMA2 studied for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 301
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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.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.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.3411+13G>A rs3798663 0.25503
NM_000426.4(LAMA2):c.156C>T (p.Ile52=) rs1140366 0.08370
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.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.4487C>T (p.Ala1496Val) rs147077184 0.00338
NM_000426.4(LAMA2):c.9211+6T>C rs201375881 0.00091
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.7250A>G (p.His2417Arg) rs147185142 0.00053
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.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.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.1391C>T (p.Pro464Leu) rs150394215 0.00010
NM_000426.4(LAMA2):c.2240G>C (p.Gly747Ala) rs139843107 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.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.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.7978C>A (p.Leu2660Ile) rs201587923 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.1084A>T (p.Arg362Ter) rs191912891 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.2512G>A (p.Gly838Arg) rs150361703 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.3976C>T (p.Arg1326Ter) rs398123373 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.712G>A (p.Ala238Thr) rs779975082 0.00003
NM_000426.4(LAMA2):c.1495C>T (p.Arg499Cys) rs143626559 0.00002
NM_000426.4(LAMA2):c.3215del (p.Cys1072fs) rs886041297 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.7377dup (p.Leu2460fs) rs749566145 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.1854_1861dup (p.Leu621fs) rs202247791 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.3444C>A (p.Cys1148Ter) rs1383756739 0.00001
NM_000426.4(LAMA2):c.3803C>T (p.Ser1268Phe) rs776042035 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.442C>T (p.Arg148Trp) rs752485547 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.4858A>T (p.Lys1620Ter) rs762342110 0.00001
NM_000426.4(LAMA2):c.5072-3C>A rs759155854 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.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.7553C>A (p.Thr2518Asn) rs1313279253 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.8536C>T (p.Gln2846Ter) rs1463264889 0.00001
NM_000426.4(LAMA2):c.9217C>T (p.Leu3073Phe) rs1315125567 0.00001
NM_000426.4(LAMA2):c.1011del (p.Thr339fs)
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.1097T>A (p.Leu366Ter)
NM_000426.4(LAMA2):c.1195_1198del (p.Arg399fs)
NM_000426.4(LAMA2):c.1206G>C (p.Gly402=) rs1167723109
NM_000426.4(LAMA2):c.1232G>C (p.Cys411Ser)
NM_000426.4(LAMA2):c.1233C>A (p.Cys411Ter)
NM_000426.4(LAMA2):c.1255del (p.Ile419fs) rs1185229314
NM_000426.4(LAMA2):c.1278T>A (p.Cys426Ter) rs1779703136
NM_000426.4(LAMA2):c.1289_1290insT (p.Glu430fs)
NM_000426.4(LAMA2):c.1365del (p.Cys456fs)
NM_000426.4(LAMA2):c.1429A>T (p.Lys477Ter)
NM_000426.4(LAMA2):c.1464C>A (p.Cys488Ter) rs1780700010
NM_000426.4(LAMA2):c.1467+2T>C rs1554234163
NM_000426.4(LAMA2):c.1533_1534insG (p.Trp512fs)
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.1669del (p.Gln557fs)
NM_000426.4(LAMA2):c.1686_1687insA (p.Ser563fs)
NM_000426.4(LAMA2):c.1752G>A (p.Trp584Ter) rs1781606569
NM_000426.4(LAMA2):c.1793_1795del (p.Val598del) rs1165542235
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.184G>T (p.Gly62Ter) rs398123368
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.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.2069A>G (p.Tyr690Cys) rs2114287747
NM_000426.4(LAMA2):c.2116G>T (p.Glu706Ter) rs1787059737
NM_000426.4(LAMA2):c.2166dup (p.Val723fs)
NM_000426.4(LAMA2):c.2233dup (p.Val745fs)
NM_000426.4(LAMA2):c.2328T>A (p.Cys776Ter) rs1787862380
NM_000426.4(LAMA2):c.2348del (p.Pro783fs)
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.2461_2476del (p.Thr821fs)
NM_000426.4(LAMA2):c.2471T>A (p.Leu824Ter)
NM_000426.4(LAMA2):c.2521G>T (p.Gly841Ter)
NM_000426.4(LAMA2):c.2556del (p.Phe852fs) rs750731624
NM_000426.4(LAMA2):c.2557G>T (p.Gly853Ter) rs1789386860
NM_000426.4(LAMA2):c.2585G>A (p.Cys862Tyr)
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.2719G>T (p.Gly907Ter) rs1789399872
NM_000426.4(LAMA2):c.2749+1G>A rs759555791
NM_000426.4(LAMA2):c.2776_2782del (p.Phe926fs)
NM_000426.4(LAMA2):c.2783_2784del (p.Glu928fs)
NM_000426.4(LAMA2):c.2811T>A (p.Cys937Ter)
NM_000426.4(LAMA2):c.2833G>A (p.Gly945Ser) rs372574661
NM_000426.4(LAMA2):c.286A>T (p.Arg96Ter)
NM_000426.4(LAMA2):c.2877_2878dup (p.Ser960fs)
NM_000426.4(LAMA2):c.2879C>G (p.Ser960Ter)
NM_000426.4(LAMA2):c.2906G>A (p.Cys969Tyr) rs2114451064
NM_000426.4(LAMA2):c.2916del (p.Phe972fs)
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.2968G>T (p.Gly990Ter) rs1187391940
NM_000426.4(LAMA2):c.29T>A (p.Leu10His)
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.3243T>A (p.Cys1081Ter) rs944013929
NM_000426.4(LAMA2):c.3270T>A (p.Cys1090Ter) rs1774323015
NM_000426.4(LAMA2):c.3290_3291del (p.His1097fs)
NM_000426.4(LAMA2):c.3296A>G (p.Asn1099Ser) rs35065563
NM_000426.4(LAMA2):c.3409A>T (p.Lys1137Ter)
NM_000426.4(LAMA2):c.3421del (p.Glu1141fs)
NM_000426.4(LAMA2):c.3454A>T (p.Lys1152Ter) rs1774465781
NM_000426.4(LAMA2):c.3626del (p.Gly1209fs)
NM_000426.4(LAMA2):c.3704G>A (p.Trp1235Ter) rs1774541313
NM_000426.4(LAMA2):c.3705G>A (p.Trp1235Ter)
NM_000426.4(LAMA2):c.3896T>A (p.Leu1299Ter)
NM_000426.4(LAMA2):c.389del (p.Leu130fs)
NM_000426.4(LAMA2):c.391C>T (p.Gln131Ter) rs1562200866
NM_000426.4(LAMA2):c.3924+2T>C rs1554269966
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.424A>T (p.Lys142Ter) rs1775300950
NM_000426.4(LAMA2):c.4294G>T (p.Glu1432Ter)
NM_000426.4(LAMA2):c.4342T>C (p.Cys1448Arg)
NM_000426.4(LAMA2):c.4378A>T (p.Lys1460Ter) rs1776319116
NM_000426.4(LAMA2):c.4397_4398del (p.Cys1466fs)
NM_000426.4(LAMA2):c.4459G>T (p.Glu1487Ter) rs1776730034
NM_000426.4(LAMA2):c.4504G>T (p.Glu1502Ter)
NM_000426.4(LAMA2):c.4533del (p.Gly1512fs) rs1776950897
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.4739dup (p.Leu1581fs) rs1392196900
NM_000426.4(LAMA2):c.4752_4753del (p.Asp1585fs)
NM_000426.4(LAMA2):c.4819_4825del (p.Lys1607fs)
NM_000426.4(LAMA2):c.4837G>T (p.Glu1613Ter) rs1247084547
NM_000426.4(LAMA2):c.4860+2delinsGGCC rs1562497781
NM_000426.4(LAMA2):c.4874C>T (p.Pro1625Leu)
NM_000426.4(LAMA2):c.4913delinsAATAAAGAGAGACAGCA (p.Gly1638delinsGluTer)
NM_000426.4(LAMA2):c.4945G>C (p.Glu1649Gln) rs143215851
NM_000426.4(LAMA2):c.4959+1del rs1583591577
NM_000426.4(LAMA2):c.4993G>T (p.Gly1665Ter) rs373997222
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.5062del (p.Asp1688fs)
NM_000426.4(LAMA2):c.507_508insCAAGAGA (p.Ala170fs)
NM_000426.4(LAMA2):c.5092A>T (p.Lys1698Ter) rs1779318396
NM_000426.4(LAMA2):c.5122G>T (p.Glu1708Ter)
NM_000426.4(LAMA2):c.512_513del (p.Val171fs)
NM_000426.4(LAMA2):c.5155A>T (p.Lys1719Ter) rs1779323338
NM_000426.4(LAMA2):c.5184del (p.Arg1729fs)
NM_000426.4(LAMA2):c.5235-1G>A rs1779406142
NM_000426.4(LAMA2):c.5274del (p.Phe1758fs)
NM_000426.4(LAMA2):c.5284dup (p.Arg1762fs)
NM_000426.4(LAMA2):c.5568_5569delinsA (p.Glu1857fs)
NM_000426.4(LAMA2):c.5578C>T (p.Gln1860Ter) rs1165626901
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.5866-1G>A rs1064797040
NM_000426.4(LAMA2):c.5913_5914del (p.Gln1972fs)
NM_000426.4(LAMA2):c.5944A>T (p.Lys1982Ter) rs1781398399
NM_000426.4(LAMA2):c.602C>A (p.Ser201Ter) rs1775313883
NM_000426.4(LAMA2):c.6030_6031del (p.Asp2011fs)
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.639+1del
NM_000426.4(LAMA2):c.6449C>A (p.Ser2150Ter) rs1782761474
NM_000426.4(LAMA2):c.6560del (p.Gly2187fs)
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.691G>T (p.Glu231Ter) rs1778273068
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.7280_7283del (p.Leu2427fs)
NM_000426.4(LAMA2):c.728T>C (p.Leu243Pro) rs1562273395
NM_000426.4(LAMA2):c.7296del (p.Lys2432fs)
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.7489A>T (p.Lys2497Ter)
NM_000426.4(LAMA2):c.7490_7493dup (p.Asp2498fs) rs1480934961
NM_000426.4(LAMA2):c.7521dup (p.Ile2508fs) rs1583845651
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.7658C>A (p.Ser2553Ter)
NM_000426.4(LAMA2):c.7675G>T (p.Glu2559Ter)
NM_000426.4(LAMA2):c.7750-2A>G rs778539477
NM_000426.4(LAMA2):c.7753T>C (p.Tyr2585His) rs1784589986
NM_000426.4(LAMA2):c.7771_7772delinsT (p.Asn2591fs)
NM_000426.4(LAMA2):c.781A>T (p.Lys261Ter) rs781316719
NM_000426.4(LAMA2):c.7834A>T (p.Arg2612Ter)
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.7976del (p.Lys2659fs)
NM_000426.4(LAMA2):c.8008C>T (p.Gln2670Ter) rs1784888496
NM_000426.4(LAMA2):c.8188C>T (p.Gln2730Ter) rs1784919273
NM_000426.4(LAMA2):c.8206_8209del (p.Thr2736fs)
NM_000426.4(LAMA2):c.8377_8383del (p.Val2793fs)
NM_000426.4(LAMA2):c.8430_8431insAG (p.Ala2811fs)
NM_000426.4(LAMA2):c.8479T>A (p.Tyr2827Asn)
NM_000426.4(LAMA2):c.8542del (p.His2848fs)
NM_000426.4(LAMA2):c.8597_8598insAA (p.Ser2867fs)
NM_000426.4(LAMA2):c.8603dup (p.Asn2868fs)
NM_000426.4(LAMA2):c.8712T>A (p.Tyr2904Ter)
NM_000426.4(LAMA2):c.872del (p.Gly291fs) rs1222620175
NM_000426.4(LAMA2):c.8770C>T (p.Gln2924Ter) rs1034133545
NM_000426.4(LAMA2):c.8781del (p.Ser2928fs)
NM_000426.4(LAMA2):c.951_952insCT (p.Cys318fs) rs1554227092
NM_000426.4(LAMA2):c.966T>A (p.Cys322Ter)
NM_000426.4(LAMA2):c.[2522G>A;2932G>A]
NM_000426.4(LAMA2):c.[533C>T;8733G>C]
Single allele

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