ClinVar Miner

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

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Total variants: 81
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HGVS dbSNP
NM_000426.3(LAMA2):c.1027+1G>T rs1064797327
NM_000426.3(LAMA2):c.106C>T (p.Gln36Ter) rs1360796756
NM_000426.3(LAMA2):c.112+1G>A rs398123367
NM_000426.3(LAMA2):c.1306+2T>G rs1326401124
NM_000426.3(LAMA2):c.1307-1G>A rs1554234051
NM_000426.3(LAMA2):c.1467+2T>C rs1554234163
NM_000426.3(LAMA2):c.149C>T (p.Ala50Val)
NM_000426.3(LAMA2):c.2096+1G>A rs1554256965
NM_000426.3(LAMA2):c.2322+1G>C rs945091158
NM_000426.3(LAMA2):c.2323-1G>A rs1278823424
NM_000426.3(LAMA2):c.2451-1delG rs767784355
NM_000426.3(LAMA2):c.2451-2A>G rs993196576
NM_000426.3(LAMA2):c.2461A>C (p.Thr821Pro) rs186538779
NM_000426.3(LAMA2):c.2556del (p.Phe852fs) rs750731624
NM_000426.3(LAMA2):c.2749+1G>A rs759555791
NM_000426.3(LAMA2):c.2749+1G>C rs759555791
NM_000426.3(LAMA2):c.283+1G>A rs200288072
NM_000426.3(LAMA2):c.283C>T (p.Gln95Ter) rs1018100729
NM_000426.3(LAMA2):c.2962C>T (p.Gln988Ter) rs398123371
NM_000426.3(LAMA2):c.2T>C (p.Met1Thr) rs374403765
NM_000426.3(LAMA2):c.3283C>T (p.Arg1095Ter) rs376088608
NM_000426.3(LAMA2):c.3294del (p.His1097_Trp1098insTer) rs764839142
NM_000426.3(LAMA2):c.329G>A (p.Trp110Ter) rs1441933780
NM_000426.3(LAMA2):c.32T>C (p.Leu11Pro) rs730880252
NM_000426.3(LAMA2):c.3412-2A>C rs1562449164
NM_000426.3(LAMA2):c.3623_3645del (p.Lys1208fs) rs727503992
NM_000426.3(LAMA2):c.3718C>T (p.Gln1240Ter) rs121913569
NM_000426.3(LAMA2):c.3736-2A>G rs372715292
NM_000426.3(LAMA2):c.3736-2A>T rs372715292
NM_000426.3(LAMA2):c.396+1G>T rs770617208
NM_000426.3(LAMA2):c.4176+1G>A rs1404492484
NM_000426.3(LAMA2):c.4198C>T (p.Arg1400Ter) rs775112258
NM_000426.3(LAMA2):c.4348C>T (p.Arg1450Ter) rs200923373
NM_000426.3(LAMA2):c.4436+1G>C rs376430565
NM_000426.3(LAMA2):c.4524-2A>T rs1554278541
NM_000426.3(LAMA2):c.4692_4695dup (p.Arg1566fs) rs774051471
NM_000426.3(LAMA2):c.4717+1G>C rs1131691660
NM_000426.3(LAMA2):c.4717+1G>T rs1131691660
NM_000426.3(LAMA2):c.498G>A (p.Trp166Ter) rs553221833
NM_000426.3(LAMA2):c.5050G>T (p.Glu1684Ter) rs201632009
NM_000426.3(LAMA2):c.5259del (p.Lys1753_Val1754insTer) rs1211739649
NM_000426.3(LAMA2):c.5260del (p.Lys1753_Val1754insTer) rs794727594
NM_000426.3(LAMA2):c.5325dup (p.Leu1776fs) rs768458445
NM_000426.3(LAMA2):c.5562+1G>A rs376014152
NM_000426.3(LAMA2):c.5562+5G>C rs771046502
NM_000426.3(LAMA2):c.5563-2A>G rs786204779
NM_000426.3(LAMA2):c.5706_5712del (p.Asp1902fs) rs398123377
NM_000426.3(LAMA2):c.5865+2T>G rs1554290316
NM_000426.3(LAMA2):c.5866-1G>A rs1064797040
NM_000426.3(LAMA2):c.5866-2A>G rs1554295204
NM_000426.3(LAMA2):c.5914C>T (p.Gln1972Ter) rs398123378
NM_000426.3(LAMA2):c.61C>T (p.Gln21Ter) rs886061039
NM_000426.3(LAMA2):c.640-1G>A rs1296761337
NM_000426.3(LAMA2):c.6429+1G>C rs1262029350
NM_000426.3(LAMA2):c.6429+1G>T rs1262029350
NM_000426.3(LAMA2):c.6573+1G>A rs757435241
NM_000426.3(LAMA2):c.6573+1G>T rs757435241
NM_000426.3(LAMA2):c.6919_6920del (p.Tyr2307fs) rs757404275
NM_000426.3(LAMA2):c.6955C>T (p.Arg2319Ter) rs398123383
NM_000426.3(LAMA2):c.6993-2A>C rs200669208
NM_000426.3(LAMA2):c.6993_7155del163 (p.Ser2331Argfs) rs1554301637
NM_000426.3(LAMA2):c.7074C>A (p.Tyr2358Ter) rs762806915
NM_000426.3(LAMA2):c.715C>T (p.Arg239Cys) rs145465528
NM_000426.3(LAMA2):c.7444A>T (p.Lys2482Ter) rs1554303937
NM_000426.3(LAMA2):c.7572+1G>A rs1554305006
NM_000426.3(LAMA2):c.7658del (p.Ser2553fs) rs1293303410
NM_000426.3(LAMA2):c.7881T>G (p.His2627Gln) rs202247792
NM_000426.3(LAMA2):c.7888C>T (p.Arg2630Ter) rs727502851
NM_000426.3(LAMA2):c.8075+1G>A rs1055407857
NM_000426.3(LAMA2):c.8076-1G>A rs1554310169
NM_000426.3(LAMA2):c.8169_8173del (p.Ala2723_Pro2724insTer) rs1554310242
NM_000426.3(LAMA2):c.817A>T (p.Arg273Ter) rs886043648
NM_000426.3(LAMA2):c.819+1G>A rs1554226186
NM_000426.3(LAMA2):c.8548-2A>G rs369224209
NM_000426.3(LAMA2):c.8858-1G>A rs1554319117
NM_000426.3(LAMA2):c.9095dup (p.Ile3033fs) rs1554320205
NM_000426.3(LAMA2):c.9211+1G>A rs1554320318
NM_000426.3(LAMA2):c.9212-2A>G rs1554321125
NM_000426.3(LAMA2):c.9295A>T (p.Lys3099Ter) rs749797580
NM_000426.3(LAMA2):c.951_952insCT (p.Cys318fs) rs1554227092
NM_000426.3(LAMA2):c.[7691T>C];[9253C>T]

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