ClinVar Miner

List of variants in gene LAMA2 reported as pathogenic for not provided

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Gene type:
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Total variants: 120
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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.5260del (p.Lys1753_Val1754insTer) rs794727594 0.00006
NM_000426.4(LAMA2):c.7732C>T (p.Arg2578Ter) rs121913572 0.00004
NM_000426.4(LAMA2):c.2451-2A>G rs993196576 0.00003
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.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.2322+1G>C rs945091158 0.00001
NM_000426.4(LAMA2):c.2749+1G>C rs759555791 0.00001
NM_000426.4(LAMA2):c.2901C>A (p.Cys967Ter) rs121913577 0.00001
NM_000426.4(LAMA2):c.2T>C (p.Met1Thr) rs374403765 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.363C>A (p.Tyr121Ter) rs535635043 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.4523+1G>A rs398123375 0.00001
NM_000426.4(LAMA2):c.4860G>A (p.Lys1620=) rs1256865383 0.00001
NM_000426.4(LAMA2):c.5234+1G>A rs781376927 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.6955C>T (p.Arg2319Ter) rs398123383 0.00001
NM_000426.4(LAMA2):c.7071G>A (p.Trp2357Ter) rs1276312596 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.8244+1G>A rs749522728 0.00001
GRCh37/hg19 6q22.33(chr6:129236792-129488075)x1
GRCh37/hg19 6q22.33(chr6:129612759-129622017)x3
NM_000426.4(LAMA2):c.1032_1042del (p.Cys344fs) rs886044344
NM_000426.4(LAMA2):c.112+1G>C rs398123367
NM_000426.4(LAMA2):c.1263del (p.Ser421_Leu422insTer) rs1779702214
NM_000426.4(LAMA2):c.1279_1280del (p.Val427fs) rs1554230429
NM_000426.4(LAMA2):c.1610_1611del (p.Ile537fs) rs886043374
NM_000426.4(LAMA2):c.1762del (p.Ala588fs) rs786205654
NM_000426.4(LAMA2):c.1781_1782del (p.Lys594fs) rs1554238384
NM_000426.4(LAMA2):c.184G>T (p.Gly62Ter) rs398123368
NM_000426.4(LAMA2):c.1855_1856insATGTTCAC (p.Arg619fs) rs797044643
NM_000426.4(LAMA2):c.1893_1897del (p.Asp631fs) rs746844753
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.2350dup (p.Tyr784fs) rs1554260284
NM_000426.4(LAMA2):c.2352T>G (p.Tyr784Ter) rs886044330
NM_000426.4(LAMA2):c.2383G>T (p.Glu795Ter)
NM_000426.4(LAMA2):c.2556del (p.Phe852fs) rs750731624
NM_000426.4(LAMA2):c.2595C>A (p.Cys865Ter) rs1789391655
NM_000426.4(LAMA2):c.2750-1G>C rs9492297
NM_000426.4(LAMA2):c.283C>T (p.Gln95Ter) rs1018100729
NM_000426.4(LAMA2):c.2918_2936del (p.Gly973fs)
NM_000426.4(LAMA2):c.2962C>T (p.Gln988Ter) rs398123371
NM_000426.4(LAMA2):c.3237C>A (p.Cys1079Ter) rs1554268940
NM_000426.4(LAMA2):c.3294del (p.His1097_Trp1098insTer) rs764839142
NM_000426.4(LAMA2):c.354_355dup (p.Ile119fs) rs2114795567
NM_000426.4(LAMA2):c.3593_3605del (p.Val1198fs) rs2114501230
NM_000426.4(LAMA2):c.3623_3645del (p.Lys1208fs) rs727503992
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.3829C>T (p.Arg1277Ter) rs1554269891
NM_000426.4(LAMA2):c.3924+2T>C rs1554269966
NM_000426.4(LAMA2):c.3932G>A (p.Trp1311Ter) rs2114502893
NM_000426.4(LAMA2):c.3979_3985dup (p.Phe1329Ter) rs886042847
NM_000426.4(LAMA2):c.4002T>G (p.Tyr1334Ter) rs1562451730
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>A (p.Ser146Tyr) rs143680577
NM_000426.4(LAMA2):c.442dup (p.Arg148fs) rs1775302275
NM_000426.4(LAMA2):c.444dup (p.Pro149fs) rs759516529
NM_000426.4(LAMA2):c.4510C>T (p.Gln1504Ter)
NM_000426.4(LAMA2):c.4708G>T (p.Glu1570Ter) rs1218997631
NM_000426.4(LAMA2):c.498G>A (p.Trp166Ter) rs553221833
NM_000426.4(LAMA2):c.5050G>T (p.Glu1684Ter) rs201632009
NM_000426.4(LAMA2):c.5195dup (p.Asn1732fs) rs747567057
NM_000426.4(LAMA2):c.524_534dup (p.Leu179delinsSerAlaTer) rs797044728
NM_000426.4(LAMA2):c.5325dup (p.Leu1776fs) rs768458445
NM_000426.4(LAMA2):c.5374G>T (p.Glu1792Ter) rs746201268
NM_000426.4(LAMA2):c.5605G>T (p.Glu1869Ter) rs746762473
NM_000426.4(LAMA2):c.5866-1G>A rs1064797040
NM_000426.4(LAMA2):c.6011del (p.Asn2004fs) rs398123379
NM_000426.4(LAMA2):c.6038del (p.Leu2012_Leu2013insTer) rs398123380
NM_000426.4(LAMA2):c.61_62del (p.Gln21fs) rs1554312687
NM_000426.4(LAMA2):c.6310C>T (p.Gln2104Ter) rs2114774712
NM_000426.4(LAMA2):c.6323_6335del (p.Arg2108fs) rs2114774731
NM_000426.4(LAMA2):c.639+2T>A rs1775316198
NM_000426.4(LAMA2):c.6488del (p.Lys2163fs) rs886039482
NM_000426.4(LAMA2):c.6617del (p.Phe2206fs) rs867012156
NM_000426.4(LAMA2):c.7024C>T (p.Gln2342Ter) rs1583813573
NM_000426.4(LAMA2):c.7147C>T (p.Arg2383Ter) rs121913576
NM_000426.4(LAMA2):c.7155+1G>A rs886043692
NM_000426.4(LAMA2):c.7279_7280del (p.Leu2427fs) rs398123385
NM_000426.4(LAMA2):c.7439+1G>A rs886043630
NM_000426.4(LAMA2):c.7490_7493dup (p.Asp2498fs) rs1480934961
NM_000426.4(LAMA2):c.7536del (p.Asp2513fs) rs398123387
NM_000426.4(LAMA2):c.7630del (p.Ile2544fs) rs1784335277
NM_000426.4(LAMA2):c.7810C>T (p.Arg2604Ter) rs766920075
NM_000426.4(LAMA2):c.7825dup (p.Ile2609fs) rs2114849006
NM_000426.4(LAMA2):c.7888C>T (p.Arg2630Ter) rs727502851
NM_000426.4(LAMA2):c.7991del (p.Gly2664fs) rs886039541
NM_000426.4(LAMA2):c.8155G>T (p.Glu2719Ter) rs1289855948
NM_000426.4(LAMA2):c.817A>T (p.Arg273Ter) rs886043648
NM_000426.4(LAMA2):c.8244+3_8244+6del rs746678525
NM_000426.4(LAMA2):c.8553_8557del (p.Lys2851fs) rs2114900265
NM_000426.4(LAMA2):c.8669dup (p.Leu2890fs) rs1554316216
NM_000426.4(LAMA2):c.8689C>T (p.Arg2897Ter) rs750328754
NM_000426.4(LAMA2):c.8805del (p.Phe2935fs) rs767797497
NM_000426.4(LAMA2):c.910-1G>T rs2114967780
NM_000426.4(LAMA2):c.9101_9104dup (p.His3035fs) rs398123390
NM_000426.4(LAMA2):c.9212-1G>A rs398123391
NM_000426.4(LAMA2):c.951_952insCT (p.Cys318fs) rs1554227092

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