ClinVar Miner

List of variants in gene LAMA2 reported as pathogenic for congenital muscular dystrophy

Included ClinVar conditions (105):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 109
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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.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.7658del (p.Ser2553fs) rs1293303410 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.1854_1861dup (p.Leu621fs) rs202247791 0.00001
NM_000426.4(LAMA2):c.2749+2dup rs759144210 0.00001
NM_000426.4(LAMA2):c.2901C>A (p.Cys967Ter) rs121913577 0.00001
NM_000426.4(LAMA2):c.363C>A (p.Tyr121Ter) rs535635043 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.4645C>T (p.Arg1549Ter) rs121913575 0.00001
NM_000426.4(LAMA2):c.5234+1G>A rs781376927 0.00001
NM_000426.4(LAMA2):c.5914C>T (p.Gln1972Ter) rs398123378 0.00001
NM_000426.4(LAMA2):c.6955C>T (p.Arg2319Ter) rs398123383 0.00001
NM_000426.4(LAMA2):c.7074C>A (p.Tyr2358Ter) rs762806915 0.00001
NM_000426.4(LAMA2):c.7691T>C (p.Leu2564Pro) rs121913570 0.00001
NM_000426.4(LAMA2):c.8244+1G>A rs749522728 0.00001
NC_000006.12:g.128960376_129175759del
NM_000426.3(LAMA2):c.[2049_2050delAG];[523G>T]
NM_000426.4(LAMA2):c.1122del (p.Gly376fs) rs1338860420
NM_000426.4(LAMA2):c.1255del (p.Ile419fs) rs1185229314
NM_000426.4(LAMA2):c.1263del (p.Ser421_Leu422insTer) rs1779702214
NM_000426.4(LAMA2):c.1282_1283dup (p.Asp429fs) rs2114993311
NM_000426.4(LAMA2):c.1306+2T>G rs1326401124
NM_000426.4(LAMA2):c.1307-2A>G
NM_000426.4(LAMA2):c.1490_1491del (p.Asp496_Cys497insTer)
NM_000426.4(LAMA2):c.1522C>T (p.Gln508Ter)
NM_000426.4(LAMA2):c.1823_1824del (p.Ser607_Tyr608insTer)
NM_000426.4(LAMA2):c.1893_1897del (p.Asp631fs) rs746844753
NM_000426.4(LAMA2):c.1976C>A (p.Ser659Ter)
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs) rs202247790
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.2350dup (p.Tyr784fs) rs1554260284
NM_000426.4(LAMA2):c.2556del (p.Phe852fs) rs750731624
NM_000426.4(LAMA2):c.2718del (p.Phe906fs)
NM_000426.4(LAMA2):c.2749+1G>A rs759555791
NM_000426.4(LAMA2):c.2834del (p.Gly945fs) rs2114432671
NM_000426.4(LAMA2):c.2962C>T (p.Gln988Ter) rs398123371
NM_000426.4(LAMA2):c.3037+1G>T rs1773291512
NM_000426.4(LAMA2):c.3186C>A (p.Cys1062Ter) rs1774316033
NM_000426.4(LAMA2):c.3329del (p.Leu1110fs) rs1583470073
NM_000426.4(LAMA2):c.3562_3563del (p.Leu1188fs) rs1583475938
NM_000426.4(LAMA2):c.3630del (p.Ile1210fs) rs398123372
NM_000426.4(LAMA2):c.3718C>T (p.Gln1240Ter) rs121913569
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.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.4058+1G>A rs2114503272
NM_000426.4(LAMA2):c.4198C>T (p.Arg1400Ter) rs775112258
NM_000426.4(LAMA2):c.437C>T (p.Ser146Phe) rs143680577
NM_000426.4(LAMA2):c.442del (p.Arg148fs)
NM_000426.4(LAMA2):c.442dup (p.Arg148fs) rs1775302275
NM_000426.4(LAMA2):c.4446del (p.Ser1483fs)
NM_000426.4(LAMA2):c.4524-2A>T rs1554278541
NM_000426.4(LAMA2):c.4692_4695dup (p.Arg1566fs) rs774051471
NM_000426.4(LAMA2):c.4739dup (p.Leu1581fs) rs1392196900
NM_000426.4(LAMA2):c.4861del (p.His1621fs)
NM_000426.4(LAMA2):c.4886dup (p.Glu1630fs)
NM_000426.4(LAMA2):c.4936G>T (p.Glu1646Ter) rs748541803
NM_000426.4(LAMA2):c.4959+1del rs1583591577
NM_000426.4(LAMA2):c.498G>A (p.Trp166Ter) rs553221833
NM_000426.4(LAMA2):c.5156_5159del (p.Lys1719fs) rs1554286963
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.5290dup (p.Glu1764fs) rs1415944134
NM_000426.4(LAMA2):c.5374G>T (p.Glu1792Ter) rs746201268
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.6636_6637del (p.Gly2213fs)
NM_000426.4(LAMA2):c.7147C>T (p.Arg2383Ter) rs121913576
NM_000426.4(LAMA2):c.7279_7280del (p.Leu2427fs) rs398123385
NM_000426.4(LAMA2):c.7452-1G>A rs1554304931
NM_000426.4(LAMA2):c.7490_7493dup (p.Asp2498fs) rs1480934961
NM_000426.4(LAMA2):c.7630del (p.Ile2544fs) rs1784335277
NM_000426.4(LAMA2):c.7750-1713_7899-2153del
NM_000426.4(LAMA2):c.7778del (p.Gly2593fs) rs2114848887
NM_000426.4(LAMA2):c.7810C>T (p.Arg2604Ter) rs766920075
NM_000426.4(LAMA2):c.7888C>T (p.Arg2630Ter) rs727502851
NM_000426.4(LAMA2):c.7898+1G>A rs1784599832
NM_000426.4(LAMA2):c.7991del (p.Gly2664fs) rs886039541
NM_000426.4(LAMA2):c.8244+2dup rs1554310330
NM_000426.4(LAMA2):c.8244+3_8244+6del rs746678525
NM_000426.4(LAMA2):c.825del (p.Tyr276fs) rs1562275792
NM_000426.4(LAMA2):c.8380_8383del (p.Arg2794fs) rs2114890786
NM_000426.4(LAMA2):c.8613dup (p.Ser2872fs) rs2114900655
NM_000426.4(LAMA2):c.8665G>A (p.Gly2889Arg) rs886039896
NM_000426.4(LAMA2):c.8714_8715insGTGACG (p.Ser2905delinsArgTer) rs2114910650
NM_000426.4(LAMA2):c.908dup (p.Asn303fs) rs2114964219
NM_000426.4(LAMA2):c.9253C>T (p.Arg3085Ter) rs121913571
NM_000426.4:c.(6992+1_6993-1)_(7300+1_7301-1)del

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