ClinVar Miner

List of variants in gene LAMA2 studied for Congenital muscular dystrophy due to partial LAMA2 deficiency

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Total variants: 251
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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 0.63102
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.7845G>A (p.Pro2615=) rs2229850 0.35164
NM_000426.4(LAMA2):c.2799A>G (p.Gln933=) rs1027199 0.26612
NM_000426.4(LAMA2):c.3411+13G>A rs3798663 0.25475
NM_000426.4(LAMA2):c.*118T>C rs1049476 0.25167
NM_000426.4(LAMA2):c.1856G>A (p.Arg619His) rs3816665 0.25123
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 0.08417
NM_000426.4(LAMA2):c.4956C>G (p.Thr1652=) rs17057184 0.08154
NM_000426.4(LAMA2):c.-99A>G rs111531732 0.02904
NM_000426.4(LAMA2):c.6274+4C>T rs73775410 0.02805
NM_000426.4(LAMA2):c.-72G>A rs10080633 0.02370
NM_000426.4(LAMA2):c.8028T>C (p.Asn2676=) rs35313209 0.02285
NM_000426.4(LAMA2):c.8528A>G (p.Asn2843Ser) rs73599293 0.02027
NM_000426.4(LAMA2):c.4750G>A (p.Gly1584Ser) rs117781224 0.01941
NM_000426.4(LAMA2):c.1533T>C (p.Asn511=) rs9492266 0.01938
NM_000426.4(LAMA2):c.1491T>C (p.Cys497=) rs2306220 0.01733
NM_000426.4(LAMA2):c.8124T>A (p.Gly2708=) rs34997144 0.01727
NM_000426.4(LAMA2):c.8691A>G (p.Arg2897=) rs2228599 0.01648
NM_000426.4(LAMA2):c.1798G>A (p.Gly600Arg) rs36044314 0.01250
NM_000426.4(LAMA2):c.*57A>C rs1049473 0.01179
NM_000426.4(LAMA2):c.3613A>G (p.Thr1205Ala) rs35889149 0.01170
NM_000426.4(LAMA2):c.1206+11C>T rs115007959 0.00915
NM_000426.4(LAMA2):c.8548-10T>C rs113644365 0.00865
NM_000426.4(LAMA2):c.9123C>T (p.Val3041=) rs61749497 0.00858
NM_000426.4(LAMA2):c.7431A>T (p.Arg2477Ser) rs34367843 0.00850
NM_000426.4(LAMA2):c.1930C>G (p.His644Asp) rs35879899 0.00835
NM_000426.4(LAMA2):c.1403C>G (p.Ala468Gly) rs111695726 0.00720
NM_000426.4(LAMA2):c.1701C>T (p.Ile567=) rs111381107 0.00641
NM_000426.4(LAMA2):c.4437-5T>A rs41285288 0.00557
NM_000426.4(LAMA2):c.4470C>T (p.Asp1490=) rs35089085 0.00547
NM_000426.4(LAMA2):c.2476C>T (p.Arg826Trp) rs118147866 0.00531
NM_000426.4(LAMA2):c.3556-15T>G rs17741922 0.00497
NM_000426.4(LAMA2):c.2097-13T>C rs139246515 0.00415
NM_000426.4(LAMA2):c.1634T>A (p.Leu545Gln) rs118083923 0.00348
NM_000426.4(LAMA2):c.8982T>C (p.Asp2994=) rs79374915 0.00344
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val) rs147077184 0.00338
NM_000426.4(LAMA2):c.4935C>A (p.Thr1645=) rs35579821 0.00306
NM_000426.4(LAMA2):c.6788C>T (p.Thr2263Met) rs56209257 0.00301
NM_000426.4(LAMA2):c.675C>T (p.Ala225=) rs139665175 0.00298
NM_000426.4(LAMA2):c.5633C>T (p.Ser1878Phe) rs139586720 0.00258
NM_000426.4(LAMA2):c.4959+6G>T rs148060790 0.00236
NM_000426.4(LAMA2):c.411G>A (p.Ala137=) rs149347601 0.00224
NM_000426.4(LAMA2):c.1621A>G (p.Ser541Gly) rs141363186 0.00175
NM_000426.4(LAMA2):c.6279C>T (p.Ala2093=) rs141190803 0.00173
NM_000426.4(LAMA2):c.2462C>T (p.Thr821Met) rs117422805 0.00169
NM_000426.4(LAMA2):c.7640G>A (p.Gly2547Glu) rs115488979 0.00165
NM_000426.4(LAMA2):c.1308T>G (p.Gly436=) rs41285286 0.00162
NM_000426.4(LAMA2):c.8728G>A (p.Val2910Ile) rs141479751 0.00150
NM_000426.4(LAMA2):c.1782+14T>C rs191215452 0.00147
NM_000426.4(LAMA2):c.74C>T (p.Pro25Leu) rs145310035 0.00147
NM_000426.4(LAMA2):c.2856+13G>A rs149487202 0.00121
NM_000426.4(LAMA2):c.1650C>T (p.Gly550=) rs899353 0.00120
NM_000426.4(LAMA2):c.255C>T (p.Ile85=) rs142083777 0.00115
NM_000426.4(LAMA2):c.922G>A (p.Glu308Lys) rs146462599 0.00092
NM_000426.4(LAMA2):c.1782+10C>T rs200030296 0.00091
NM_000426.4(LAMA2):c.6708-3A>C rs112637707 0.00087
NM_000426.4(LAMA2):c.9211+6T>C rs201375881 0.00085
NM_000426.4(LAMA2):c.8586T>C (p.Tyr2862=) rs142451929 0.00074
NM_000426.4(LAMA2):c.7869A>G (p.Glu2623=) rs140658201 0.00067
NM_000426.4(LAMA2):c.7965C>A (p.Ile2655=) rs141101234 0.00067
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.2115T>G (p.Leu705=) rs149753273 0.00065
NM_000426.4(LAMA2):c.6629T>C (p.Val2210Ala) rs78880369 0.00060
NM_000426.4(LAMA2):c.7300+10T>A rs200469923 0.00056
NM_000426.4(LAMA2):c.7250A>G (p.His2417Arg) rs147185142 0.00052
NM_000426.4(LAMA2):c.4176+9C>T rs117116822 0.00040
NM_000426.4(LAMA2):c.2217G>T (p.Trp739Cys) rs192317605 0.00039
NM_000426.4(LAMA2):c.4926A>G (p.Thr1642=) rs62421010 0.00037
NM_000426.4(LAMA2):c.2857-13C>T rs201188972 0.00036
NM_000426.4(LAMA2):c.4944C>T (p.Asn1648=) rs111632017 0.00036
NM_000426.4(LAMA2):c.6832A>G (p.Met2278Val) rs146854942 0.00025
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.5689G>A (p.Ala1897Thr) rs200518204 0.00021
NM_000426.4(LAMA2):c.2304C>T (p.Asp768=) rs142126511 0.00020
NM_000426.4(LAMA2):c.8905C>T (p.Arg2969Cys) rs374888837 0.00020
NM_000426.4(LAMA2):c.8988+15T>C rs201041465 0.00020
NM_000426.4(LAMA2):c.2932G>A (p.Asp978Asn) rs202050052 0.00019
NM_000426.4(LAMA2):c.4909G>A (p.Glu1637Lys) rs138303386 0.00019
NM_000426.4(LAMA2):c.7415G>T (p.Gly2472Val) rs200921233 0.00019
NM_000426.4(LAMA2):c.8684C>G (p.Thr2895Ser) rs200705442 0.00019
NM_000426.4(LAMA2):c.1467+12A>G rs200224891 0.00018
NM_000426.4(LAMA2):c.5558T>G (p.Ile1853Arg) rs141911213 0.00018
NM_000426.4(LAMA2):c.7985T>C (p.Val2662Ala) rs138732723 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.4675G>A (p.Gly1559Ser) rs377630412 0.00015
NM_000426.4(LAMA2):c.7395T>C (p.Asp2465=) rs140483001 0.00014
NM_000426.4(LAMA2):c.8011C>A (p.Pro2671Thr) rs780695627 0.00014
NM_000426.4(LAMA2):c.3429C>A (p.Ile1143=) rs200646230 0.00013
NM_000426.4(LAMA2):c.9001G>C (p.Val3001Leu) rs189360899 0.00013
NM_000426.4(LAMA2):c.4993G>A (p.Gly1665Arg) rs373997222 0.00012
NM_000426.4(LAMA2):c.1373G>A (p.Arg458Lys) rs140604077 0.00011
NM_000426.4(LAMA2):c.237G>A (p.Arg79=) rs201402165 0.00011
NM_000426.4(LAMA2):c.3004G>A (p.Gly1002Ser) rs200953311 0.00011
NM_000426.4(LAMA2):c.3597T>C (p.Asp1199=) rs199904029 0.00011
NM_000426.4(LAMA2):c.3666C>A (p.Asp1222Glu) rs373992160 0.00010
NM_000426.4(LAMA2):c.1391C>T (p.Pro464Leu) rs150394215 0.00009
NM_000426.4(LAMA2):c.2736G>A (p.Ala912=) rs142671449 0.00009
NM_000426.4(LAMA2):c.4436+8T>C rs192650285 0.00009
NM_000426.4(LAMA2):c.8223G>A (p.Thr2741=) rs150596964 0.00009
NM_000426.4(LAMA2):c.9145C>G (p.Gln3049Glu) rs146525742 0.00009
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.6598C>T (p.Arg2200Cys) rs568648664 0.00007
NM_000426.4(LAMA2):c.6692G>A (p.Arg2231His) rs142536231 0.00007
NM_000426.4(LAMA2):c.8388A>C (p.Glu2796Asp) rs184127828 0.00007
NM_000426.4(LAMA2):c.1550A>T (p.Glu517Val) rs372358704 0.00006
NM_000426.4(LAMA2):c.2288C>T (p.Ala763Val) rs141521127 0.00006
NM_000426.4(LAMA2):c.409G>A (p.Ala137Thr) rs368349321 0.00006
NM_000426.4(LAMA2):c.4157A>T (p.Tyr1386Phe) rs560139751 0.00006
NM_000426.4(LAMA2):c.5158G>C (p.Glu1720Gln) rs760572086 0.00006
NM_000426.4(LAMA2):c.6884G>A (p.Arg2295His) rs142164767 0.00006
NM_000426.4(LAMA2):c.7344T>C (p.Asn2448=) rs199931560 0.00006
NM_000426.4(LAMA2):c.7708A>G (p.Thr2570Ala) rs144901086 0.00006
NM_000426.4(LAMA2):c.831G>A (p.Ser277=) rs765960304 0.00006
NM_000426.4(LAMA2):c.8836G>A (p.Gly2946Arg) rs370843758 0.00006
NM_000426.4(LAMA2):c.*46T>C rs376934472 0.00005
NM_000426.4(LAMA2):c.1085G>T (p.Arg362Ile) rs182958473 0.00005
NM_000426.4(LAMA2):c.1562C>T (p.Ser521Leu) rs369760070 0.00005
NM_000426.4(LAMA2):c.1586G>A (p.Ser529Asn) rs370691060 0.00005
NM_000426.4(LAMA2):c.3585A>G (p.Leu1195=) rs780444488 0.00005
NM_000426.4(LAMA2):c.5469C>T (p.Ser1823=) rs753886576 0.00005
NM_000426.4(LAMA2):c.7681G>A (p.Gly2561Ser) rs200341138 0.00005
NM_000426.4(LAMA2):c.8464T>C (p.Leu2822=) rs199570699 0.00005
NM_000426.4(LAMA2):c.2527C>T (p.Arg843Cys) rs769493998 0.00004
NM_000426.4(LAMA2):c.2686C>T (p.Arg896Trp) rs764053957 0.00004
NM_000426.4(LAMA2):c.2831A>G (p.Gln944Arg) rs141920360 0.00004
NM_000426.4(LAMA2):c.9212-11G>A rs770088527 0.00004
NM_000426.4(LAMA2):c.9254G>A (p.Arg3085Gln) rs776606476 0.00004
NM_000426.4(LAMA2):c.1652G>A (p.Arg551His) rs747779519 0.00003
NM_000426.4(LAMA2):c.2149A>G (p.Ile717Val) rs369049149 0.00003
NM_000426.4(LAMA2):c.3086G>A (p.Arg1029Gln) rs149993931 0.00003
NM_000426.4(LAMA2):c.4772A>G (p.Gln1591Arg) rs143986011 0.00003
NM_000426.4(LAMA2):c.5553C>T (p.Ser1851=) rs781341719 0.00003
NM_000426.4(LAMA2):c.5688C>T (p.His1896=) rs573779258 0.00003
NM_000426.4(LAMA2):c.6429+10T>G rs770063449 0.00003
NM_000426.4(LAMA2):c.6635C>G (p.Ser2212Cys) rs746883617 0.00003
NM_000426.4(LAMA2):c.7466T>C (p.Leu2489Pro) rs774287164 0.00003
NM_000426.4(LAMA2):c.8690G>A (p.Arg2897Gln) rs201696115 0.00003
NM_000426.4(LAMA2):c.30T>G (p.Leu10=) rs886061038 0.00002
NM_000426.4(LAMA2):c.3304C>T (p.Arg1102Cys) rs755313913 0.00002
NM_000426.4(LAMA2):c.3461G>T (p.Gly1154Val) rs922954882 0.00002
NM_000426.4(LAMA2):c.5072-10C>A rs552989582 0.00002
NM_000426.4(LAMA2):c.6269-12A>C rs749837829 0.00002
NM_000426.4(LAMA2):c.6567C>T (p.Ala2189=) rs748650667 0.00002
NM_000426.4(LAMA2):c.7231G>A (p.Val2411Ile) rs199814707 0.00002
NM_000426.4(LAMA2):c.8890G>T (p.Val2964Leu) rs202159946 0.00002
NM_000426.4(LAMA2):c.9171A>C (p.Ser3057=) rs1293824666 0.00002
NM_000426.4(LAMA2):c.-103C>T rs886061036 0.00001
NM_000426.4(LAMA2):c.1169G>C (p.Cys390Ser) rs886061045 0.00001
NM_000426.4(LAMA2):c.1580G>A (p.Cys527Tyr) rs121913574 0.00001
NM_000426.4(LAMA2):c.1615G>C (p.Asp539His) rs764236220 0.00001
NM_000426.4(LAMA2):c.1715C>T (p.Ala572Val) rs149811988 0.00001
NM_000426.4(LAMA2):c.1716G>C (p.Ala572=) rs758682648 0.00001
NM_000426.4(LAMA2):c.1757C>T (p.Ala586Val) rs373005444 0.00001
NM_000426.4(LAMA2):c.2358T>A (p.Asp786Glu) rs766979256 0.00001
NM_000426.4(LAMA2):c.2584T>C (p.Cys862Arg) rs121913573 0.00001
NM_000426.4(LAMA2):c.2714A>G (p.Tyr905Cys) rs886061048 0.00001
NM_000426.4(LAMA2):c.3203T>C (p.Leu1068Ser) rs752736343 0.00001
NM_000426.4(LAMA2):c.3333T>A (p.Pro1111=) rs1257217941 0.00001
NM_000426.4(LAMA2):c.3338C>T (p.Thr1113Ile) rs561950953 0.00001
NM_000426.4(LAMA2):c.3508G>A (p.Gly1170Ser) rs747246881 0.00001
NM_000426.4(LAMA2):c.3555+10G>A rs767221324 0.00001
NM_000426.4(LAMA2):c.4235C>A (p.Pro1412Gln) rs1375241547 0.00001
NM_000426.4(LAMA2):c.4258T>C (p.Cys1420Arg) rs145592885 0.00001
NM_000426.4(LAMA2):c.4592C>G (p.Pro1531Arg) rs760292213 0.00001
NM_000426.4(LAMA2):c.4645C>T (p.Arg1549Ter) rs121913575 0.00001
NM_000426.4(LAMA2):c.4697G>A (p.Arg1566His) rs574923739 0.00001
NM_000426.4(LAMA2):c.4749C>T (p.Leu1583=) rs754850670 0.00001
NM_000426.4(LAMA2):c.5072-3C>A rs759155854 0.00001
NM_000426.4(LAMA2):c.519C>T (p.Asp173=) rs1256347636 0.00001
NM_000426.4(LAMA2):c.5288G>A (p.Gly1763Glu) rs774715616 0.00001
NM_000426.4(LAMA2):c.5360G>C (p.Trp1787Ser) rs747621078 0.00001
NM_000426.4(LAMA2):c.5380A>G (p.Thr1794Ala) rs1360082763 0.00001
NM_000426.4(LAMA2):c.5446-14A>T rs886061049 0.00001
NM_000426.4(LAMA2):c.5461G>A (p.Val1821Ile) rs201172088 0.00001
NM_000426.4(LAMA2):c.5536G>A (p.Ala1846Thr) rs764965268 0.00001
NM_000426.4(LAMA2):c.5560G>A (p.Asp1854Asn) rs886061050 0.00001
NM_000426.4(LAMA2):c.5833G>C (p.Ala1945Pro) rs3828736 0.00001
NM_000426.4(LAMA2):c.595T>A (p.Cys199Ser) rs886043693 0.00001
NM_000426.4(LAMA2):c.6006A>G (p.Ile2002Met) rs980785600 0.00001
NM_000426.4(LAMA2):c.6323G>A (p.Arg2108Gln) rs750999777 0.00001
NM_000426.4(LAMA2):c.6438A>G (p.Val2146=) rs755485519 0.00001
NM_000426.4(LAMA2):c.6520del (p.Asn2173_Val2174insTer) rs776548207 0.00001
NM_000426.4(LAMA2):c.7148G>A (p.Arg2383Gln) rs771062387 0.00001
NM_000426.4(LAMA2):c.7153C>T (p.Leu2385=) rs1281520681 0.00001
NM_000426.4(LAMA2):c.716G>A (p.Arg239His) rs776777494 0.00001
NM_000426.4(LAMA2):c.718T>C (p.Tyr240His) rs3778142 0.00001
NM_000426.4(LAMA2):c.7479C>T (p.Ser2493=) rs368989339 0.00001
NM_000426.4(LAMA2):c.7526T>A (p.Leu2509His) rs578183193 0.00001
NM_000426.4(LAMA2):c.7898+12A>G rs572960610 0.00001
NM_000426.4(LAMA2):c.8205C>T (p.Pro2735=) rs559453268 0.00001
NM_000426.4(LAMA2):c.8760C>T (p.Ala2920=) rs781063563 0.00001
NM_000426.4(LAMA2):c.9223C>A (p.Gln3075Lys) rs771012835 0.00001
NM_000426.4(LAMA2):c.9240C>A (p.Thr3080=) rs759819184 0.00001
NM_000426.4(LAMA2):c.98C>A (p.Ala33Glu) rs750280423 0.00001
NM_000426.4(LAMA2):c.1319G>A (p.Gly440Glu) rs776467218
NM_000426.4(LAMA2):c.1506C>A (p.Ser502=) rs560445624
NM_000426.4(LAMA2):c.1558T>C (p.Cys520Arg) rs886061046
NM_000426.4(LAMA2):c.194T>C (p.Met65Thr) rs886061041
NM_000426.4(LAMA2):c.2036C>G (p.Ala679Gly) rs569768441
NM_000426.4(LAMA2):c.2097-3T>C rs886061047
NM_000426.4(LAMA2):c.2323-7T>G rs762740616
NM_000426.4(LAMA2):c.2427T>C (p.Cys809=) rs778050587
NM_000426.4(LAMA2):c.2527C>A (p.Arg843Ser) rs769493998
NM_000426.4(LAMA2):c.2545G>A (p.Glu849Lys) rs1317484890
NM_000426.4(LAMA2):c.2710G>A (p.Gly904Arg) rs1789399141
NM_000426.4(LAMA2):c.2756G>T (p.Arg919Leu) rs35277491
NM_000426.4(LAMA2):c.3296A>G (p.Asn1099Ser) rs35065563
NM_000426.4(LAMA2):c.3924+2T>C rs1554269966
NM_000426.4(LAMA2):c.3925-6T>A rs372612467
NM_000426.4(LAMA2):c.396+3A>G rs775798908
NM_000426.4(LAMA2):c.4222C>G (p.Arg1408Gly) rs780127363
NM_000426.4(LAMA2):c.4620C>A (p.Asp1540Glu) rs755373290
NM_000426.4(LAMA2):c.4790A>T (p.Asn1597Ile) rs566008145
NM_000426.4(LAMA2):c.4995A>C (p.Gly1665=) rs1778792586
NM_000426.4(LAMA2):c.5290dup (p.Glu1764fs) rs1415944134
NM_000426.4(LAMA2):c.5443G>C (p.Glu1815Gln) rs1554287445
NM_000426.4(LAMA2):c.5530C>A (p.Arg1844Ser) rs56173620
NM_000426.4(LAMA2):c.5530C>T (p.Arg1844Cys) rs56173620
NM_000426.4(LAMA2):c.5722G>A (p.Asp1908Asn) rs1485716466
NM_000426.4(LAMA2):c.5833G>A (p.Ala1945Thr) rs3828736
NM_000426.4(LAMA2):c.5893G>A (p.Glu1965Lys) rs886061052
NM_000426.4(LAMA2):c.61C>G (p.Gln21Glu) rs886061039
NM_000426.4(LAMA2):c.62A>G (p.Gln21Arg) rs1775917787
NM_000426.4(LAMA2):c.6410C>T (p.Ala2137Val) rs886061054
NM_000426.4(LAMA2):c.6667A>G (p.Thr2223Ala) rs886061055
NM_000426.4(LAMA2):c.6691C>A (p.Arg2231Ser) rs374815503
NM_000426.4(LAMA2):c.6739G>C (p.Ala2247Pro) rs750585696
NM_000426.4(LAMA2):c.7147C>T (p.Arg2383Ter) rs121913576
NM_000426.4(LAMA2):c.7186G>A (p.Gly2396Arg) rs1783477269
NM_000426.4(LAMA2):c.7762A>G (p.Ile2588Val) rs886061056
NM_000426.4(LAMA2):c.818G>A (p.Arg273Lys) rs886061043
NM_000426.4(LAMA2):c.819+7T>C rs886061044
NM_000426.4(LAMA2):c.8419C>G (p.Arg2807Gly) rs754671210
NM_000426.4(LAMA2):c.8443A>G (p.Thr2815Ala) rs1169241862
NM_000426.4(LAMA2):c.8547+14G>A rs755995964
NM_000426.4(LAMA2):c.8633T>G (p.Ile2878Ser) rs886061057
NM_000426.4(LAMA2):c.9007A>G (p.Asn3003Asp) rs371558408
NM_000426.4(LAMA2):c.9073T>C (p.Trp3025Arg) rs1786865302
NM_000426.4(LAMA2):c.9107G>A (p.Arg3036His) rs371040858
NM_000426.4(LAMA2):c.9212-15C>A rs55776770
NM_000426.4(LAMA2):c.9340G>A (p.Val3114Ile) rs200796753

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