ClinVar Miner

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

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Total variants: 184
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HGVS dbSNP gnomAD frequency
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.5562+1G>A rs376014152 0.00005
NM_000426.4(LAMA2):c.149C>T (p.Ala50Val) rs191899712 0.00004
NM_000426.4(LAMA2):c.830C>T (p.Ser277Leu) rs398123388 0.00004
NM_000426.4(LAMA2):c.2451-2A>G rs993196576 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.640-1G>A rs1296761337 0.00003
NM_000426.4(LAMA2):c.939_940del (p.Cys314fs) rs1209130981 0.00003
NM_000426.4(LAMA2):c.283+1G>A rs200288072 0.00002
NM_000426.4(LAMA2):c.4176+1G>A rs1404492484 0.00002
NM_000426.4(LAMA2):c.4876C>T (p.Gln1626Ter) rs369776766 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.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.2451-1del rs767784355 0.00001
NM_000426.4(LAMA2):c.2749+1G>C rs759555791 0.00001
NM_000426.4(LAMA2):c.2836C>T (p.Gln946Ter) rs375638381 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.329G>A (p.Trp110Ter) rs1441933780 0.00001
NM_000426.4(LAMA2):c.3556-13T>A rs775278003 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.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.6599G>A (p.Arg2200His) rs779326725 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.7283C>G (p.Ser2428Ter) rs776104105 0.00001
NM_000426.4(LAMA2):c.7572+1G>A rs1554305006 0.00001
NM_000426.4(LAMA2):c.9295A>T (p.Lys3099Ter) rs749797580 0.00001
NM_000426.3(LAMA2):c.6993_7155del163 (p.Ser2331Argfs) rs1554301637
NM_000426.3(LAMA2):c.[7691T>C];[9253C>T]
NM_000426.4(LAMA2):c.1027+1G>T rs1064797327
NM_000426.4(LAMA2):c.106C>T (p.Gln36Ter) rs1360796756
NM_000426.4(LAMA2):c.112+1G>T
NM_000426.4(LAMA2):c.1121_1129delinsTACTT (p.Gly374fs)
NM_000426.4(LAMA2):c.113-2A>C
NM_000426.4(LAMA2):c.1188dup (p.Phe397fs)
NM_000426.4(LAMA2):c.1207-1G>A
NM_000426.4(LAMA2):c.1233C>A (p.Cys411Ter)
NM_000426.4(LAMA2):c.1306+2T>G rs1326401124
NM_000426.4(LAMA2):c.1307-1G>A rs1554234051
NM_000426.4(LAMA2):c.1467+2T>C rs1554234163
NM_000426.4(LAMA2):c.1638_1641del (p.Asp547fs)
NM_000426.4(LAMA2):c.1657C>T (p.Arg553Ter) rs1303773212
NM_000426.4(LAMA2):c.1682_1688del (p.Leu561fs)
NM_000426.4(LAMA2):c.16_49del (p.Gly6fs)
NM_000426.4(LAMA2):c.1727_1767del (p.Gln576fs) rs1583219849
NM_000426.4(LAMA2):c.1749C>G (p.Tyr583Ter)
NM_000426.4(LAMA2):c.1782_1782+1delinsT
NM_000426.4(LAMA2):c.183del (p.Gly62fs)
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.1973_1991delinsTAA (p.Glu658fs)
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.2096+1G>A rs1554256965
NM_000426.4(LAMA2):c.2164G>A (p.Glu722Lys)
NM_000426.4(LAMA2):c.2323-1G>A rs1278823424
NM_000426.4(LAMA2):c.2323-2A>T
NM_000426.4(LAMA2):c.2383G>T (p.Glu795Ter)
NM_000426.4(LAMA2):c.2461A>C (p.Thr821Pro) rs186538779
NM_000426.4(LAMA2):c.2514del (p.Tyr839fs)
NM_000426.4(LAMA2):c.2537+1G>C
NM_000426.4(LAMA2):c.2556del (p.Phe852fs) rs750731624
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.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.2811_2812del (p.Cys937_Glu938delinsTer)
NM_000426.4(LAMA2):c.283+2T>A
NM_000426.4(LAMA2):c.283C>T (p.Gln95Ter) rs1018100729
NM_000426.4(LAMA2):c.2856+1G>C
NM_000426.4(LAMA2):c.2937_2938del (p.Cys979_Glu980delinsTer)
NM_000426.4(LAMA2):c.2962C>T (p.Gln988Ter) rs398123371
NM_000426.4(LAMA2):c.3033C>A (p.Cys1011Ter)
NM_000426.4(LAMA2):c.3089_3126dup (p.Lys1043fs) rs2114460969
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.3283C>T (p.Arg1095Ter) rs376088608
NM_000426.4(LAMA2):c.3294del (p.His1097_Trp1098insTer) rs764839142
NM_000426.4(LAMA2):c.32T>C (p.Leu11Pro) rs730880252
NM_000426.4(LAMA2):c.3412-2A>C rs1562449164
NM_000426.4(LAMA2):c.3556-1G>C rs2114501078
NM_000426.4(LAMA2):c.3623_3645del (p.Lys1208fs) rs727503992
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.3982del (p.Asp1328fs)
NM_000426.4(LAMA2):c.4097_4112del (p.Arg1366fs)
NM_000426.4(LAMA2):c.4198C>T (p.Arg1400Ter) rs775112258
NM_000426.4(LAMA2):c.4255_4258dup (p.Cys1420fs) rs2114532990
NM_000426.4(LAMA2):c.4285dup (p.Cys1429fs)
NM_000426.4(LAMA2):c.4319_4323del (p.Gln1440fs)
NM_000426.4(LAMA2):c.437C>A (p.Ser146Tyr) rs143680577
NM_000426.4(LAMA2):c.4436+1G>C rs376430565
NM_000426.4(LAMA2):c.4524-2A>T rs1554278541
NM_000426.4(LAMA2):c.4630G>T (p.Gly1544Ter) rs374207670
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.4861-2A>G rs2114627220
NM_000426.4(LAMA2):c.4878del (p.Gln1626fs)
NM_000426.4(LAMA2):c.498G>A (p.Trp166Ter) rs553221833
NM_000426.4(LAMA2):c.4996C>T (p.Gln1666Ter) rs2114654019
NM_000426.4(LAMA2):c.5050G>T (p.Glu1684Ter) rs201632009
NM_000426.4(LAMA2):c.5085dup (p.Ala1696fs) rs1351661862
NM_000426.4(LAMA2):c.5259del (p.Lys1753_Val1754insTer) rs1211739649
NM_000426.4(LAMA2):c.5325dup (p.Leu1776fs) rs768458445
NM_000426.4(LAMA2):c.5342del (p.Asn1781fs)
NM_000426.4(LAMA2):c.5445+1G>A rs1779423047
NM_000426.4(LAMA2):c.5563-1G>A
NM_000426.4(LAMA2):c.5563-2A>G rs786204779
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.61C>T (p.Gln21Ter) rs886061039
NM_000426.4(LAMA2):c.6429+1G>C rs1262029350
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.6714_6722del (p.Arg2239_Gly2241del) rs2114794775
NM_000426.4(LAMA2):c.6919_6920del (p.Tyr2307fs) rs757404275
NM_000426.4(LAMA2):c.6948G>A (p.Trp2316Ter)
NM_000426.4(LAMA2):c.7003del (p.Glu2335fs)
NM_000426.4(LAMA2):c.728T>C (p.Leu243Pro) rs1562273395
NM_000426.4(LAMA2):c.7301-1G>A
NM_000426.4(LAMA2):c.7374del (p.Phe2458fs)
NM_000426.4(LAMA2):c.7444A>T (p.Lys2482Ter) rs1554303937
NM_000426.4(LAMA2):c.7630del (p.Ile2544fs) rs1784335277
NM_000426.4(LAMA2):c.7692_7693insA (p.Leu2565fs)
NM_000426.4(LAMA2):c.7749+1G>C
NM_000426.4(LAMA2):c.7750-2A>G rs778539477
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.7899-1G>C
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.819+1G>A rs1554226186
NM_000426.4(LAMA2):c.820-1G>A rs1370654793
NM_000426.4(LAMA2):c.828C>G (p.Tyr276Ter) rs1028599119
NM_000426.4(LAMA2):c.8540G>A (p.Trp2847Ter)
NM_000426.4(LAMA2):c.8548-2A>G rs369224209
NM_000426.4(LAMA2):c.8556_8558del (p.Ile2852del) rs398123389
NM_000426.4(LAMA2):c.861C>A (p.Cys287Ter)
NM_000426.4(LAMA2):c.8625dup (p.Ala2876fs)
NM_000426.4(LAMA2):c.872del (p.Gly291fs) rs1222620175
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.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.9095dup (p.Ile3033fs) rs1554320205
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.9227_9243dup (p.Ile3082delinsLeuAlaTer)
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.951_952insCT (p.Cys318fs) rs1554227092
NM_000426.4(LAMA2):c.987del (p.Trp330fs)

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