ClinVar Miner

List of variants in gene LAMA3 reported as uncertain significance for Junctional epidermolysis bullosa gravis of Herlitz

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Total variants: 156
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HGVS dbSNP
NM_000227.5(LAMA3):c.*126A>G rs546219784
NM_000227.5(LAMA3):c.*352A>G rs886053681
NM_000227.5(LAMA3):c.*48T>A rs886053680
NM_000227.5(LAMA3):c.1021C>G (p.Gln341Glu) rs886053671
NM_000227.5(LAMA3):c.1097G>A (p.Arg366His) rs149809232
NM_000227.5(LAMA3):c.1170G>A (p.Ser390=) rs564308785
NM_000227.5(LAMA3):c.1186C>T (p.Arg396Trp) rs373250558
NM_000227.5(LAMA3):c.1375-12T>A rs764177904
NM_000227.5(LAMA3):c.1682G>C (p.Arg561Pro) rs148728856
NM_000227.5(LAMA3):c.1705_1707del (p.Ala569del) rs1555732875
NM_000227.5(LAMA3):c.1789-13G>T rs886053672
NM_000227.5(LAMA3):c.1863C>T (p.Ala621=) rs886053673
NM_000227.5(LAMA3):c.2294G>A (p.Arg765Gln) rs563440658
NM_000227.5(LAMA3):c.245_246insGGG (p.Gly82dup) rs1555721786
NM_000227.5(LAMA3):c.2509C>T (p.Arg837Trp) rs746635499
NM_000227.5(LAMA3):c.2632A>T (p.Met878Leu) rs1085308017
NM_000227.5(LAMA3):c.2638C>T (p.Arg880Trp) rs147463397
NM_000227.5(LAMA3):c.2678A>G (p.Asn893Ser) rs139823161
NM_000227.5(LAMA3):c.2692G>A (p.Ala898Thr) rs187899159
NM_000227.5(LAMA3):c.2763T>C (p.Asn921=) rs886053674
NM_000227.5(LAMA3):c.2766G>A (p.Leu922=) rs753332450
NM_000227.5(LAMA3):c.2896T>C (p.Tyr966His) rs377097479
NM_000227.5(LAMA3):c.2913A>G (p.Thr971=) rs145848988
NM_000227.5(LAMA3):c.304G>A (p.Ala102Thr) rs369226812
NM_000227.5(LAMA3):c.3268G>A (p.Val1090Ile) rs886053675
NM_000227.5(LAMA3):c.3377G>A (p.Arg1126Gln) rs201106669
NM_000227.5(LAMA3):c.3451T>G (p.Cys1151Gly) rs886053676
NM_000227.5(LAMA3):c.3500G>A (p.Gly1167Glu) rs886053677
NM_000227.5(LAMA3):c.3829C>T (p.Arg1277Cys) rs199991488
NM_000227.5(LAMA3):c.3830G>A (p.Arg1277His) rs759770267
NM_000227.5(LAMA3):c.3837C>T (p.Gly1279=) rs138908985
NM_000227.5(LAMA3):c.3881+4G>A rs200417639
NM_000227.5(LAMA3):c.3946G>A (p.Gly1316Arg) rs112986465
NM_000227.5(LAMA3):c.396-13G>C rs145241852
NM_000227.5(LAMA3):c.4024C>T (p.Arg1342Cys) rs61752346
NM_000227.5(LAMA3):c.4200-14G>A rs372927257
NM_000227.5(LAMA3):c.4201T>G (p.Ser1401Ala) rs886053678
NM_000227.5(LAMA3):c.4338G>A (p.Leu1446=) rs370470226
NM_000227.5(LAMA3):c.4382C>T (p.Thr1461Met) rs117056996
NM_000227.5(LAMA3):c.4466_4468CCA[1] (p.Thr1490del) rs1555752733
NM_000227.5(LAMA3):c.4685-11T>C rs776372744
NM_000227.5(LAMA3):c.4762C>T (p.His1588Tyr) rs776515886
NM_000227.5(LAMA3):c.477-4G>A rs370409067
NM_000227.5(LAMA3):c.4770_4772dup (p.Ser1591_Gln1592insArg) rs750402445
NM_000227.5(LAMA3):c.4911C>T (p.Val1637=) rs886053679
NM_000227.5(LAMA3):c.5021del (p.Gly1674fs) rs1555756067
NM_000227.5(LAMA3):c.5110G>C (p.Val1704Leu) rs377024118
NM_000227.5(LAMA3):c.513C>T (p.Phe171=) rs138524783
NM_000227.5(LAMA3):c.5153del (p.Leu1718fs) rs1555756775
NM_000227.5(LAMA3):c.5173T>A (p.Ter1725Lys) rs1555756804
NM_000227.5(LAMA3):c.583+10A>G rs746263741
NM_000227.5(LAMA3):c.773_774insTAGGCACATGGAGACCCAGGC (p.Arg252_Ala258dup) rs1555728685
NM_000227.5(LAMA3):c.786+13C>T rs766241071
NM_000227.5(LAMA3):c.794T>C (p.Leu265Ser) rs139348197
NM_000227.5(LAMA3):c.946C>T (p.Arg316Trp) rs775241363
NM_198129.3(LAMA3):c.1941+1del rs1555700047
NM_198129.3(LAMA3):c.2147+1G>A rs1555700517
NM_198129.3(LAMA3):c.2204_2210del (p.Asp735fs) rs1555701549
NM_198129.3(LAMA3):c.2305-2A>G rs1555702265
NM_198129.3(LAMA3):c.2428+1G>A rs375558120
NM_198129.3(LAMA3):c.2571+2dup rs1203300407
NM_198129.3(LAMA3):c.2868C>A (p.Tyr956Ter) rs755080322
NM_198129.3(LAMA3):c.3138_3139TG[1] (p.Val1047fs) rs1555708032
NM_198129.3(LAMA3):c.3336+1G>A rs1555708549
NM_198129.3(LAMA3):c.3381C>A (p.Tyr1127Ter) rs767385840
NM_198129.3(LAMA3):c.3719+3_3719+6del rs1436285030
NM_198129.3(LAMA3):c.3936C>A (p.Cys1312Ter) rs374897016
NM_198129.3(LAMA3):c.394del (p.Leu132fs) rs887748208
NM_198129.3(LAMA3):c.4201G>T (p.Glu1401Ter) rs752265207
NM_198129.3(LAMA3):c.4501del (p.Ser1501fs) rs1555716726
NM_198129.3(LAMA3):c.4519C>T (p.Gln1507Ter) rs534665666
NM_198129.3(LAMA3):c.4538_4560del (p.Ile1513fs) rs1555716754
NM_198129.3(LAMA3):c.4558G>T (p.Ala1520Ser) rs763626668
NM_198129.3(LAMA3):c.4750C>T (p.Arg1584Ter) rs552326056
NM_198129.3(LAMA3):c.4810_4812GAG[1] (p.Glu1605del) rs1555719776
NM_198129.3(LAMA3):c.4974del (p.Ala1659fs) rs767394785
NM_198129.3(LAMA3):c.4998+1413C>T rs145044428
NM_198129.3(LAMA3):c.5169T>C (p.Tyr1723=) rs140561492
NM_198129.3(LAMA3):c.5493C>T (p.Asn1831=) rs199982757
NM_198129.3(LAMA3):c.5522G>A (p.Arg1841His) rs144475991
NM_198129.3(LAMA3):c.584T>G (p.Leu195Ter) rs1555683785
NM_198129.3(LAMA3):c.7482-5A>C rs780657629
NM_198129.3(LAMA3):c.7545C>T (p.Pro2515=) rs145460785
NM_198129.3(LAMA3):c.7727A>G (p.Asn2576Ser) rs781529313
NM_198129.3(LAMA3):c.8193G>C (p.Thr2731=) rs762861196
NM_198129.3(LAMA3):c.8241C>T (p.Val2747=) rs371174542
NM_198129.3(LAMA3):c.8282C>T (p.Ser2761Leu) rs144549206
NM_198129.3(LAMA3):c.8283G>A (p.Ser2761=) rs146634036
NM_198129.3(LAMA3):c.856-2A>G rs757101344
NM_198129.3(LAMA3):c.8829G>A (p.Arg2943=) rs141472847
NM_198129.3(LAMA3):c.9241C>T (p.Arg3081Cys) rs35762515
NM_198129.4(LAMA3):c.*375G>C
NM_198129.4(LAMA3):c.1054G>T (p.Glu352Ter) rs1344062987
NM_198129.4(LAMA3):c.1064-1G>A rs780441868
NM_198129.4(LAMA3):c.1064-2A>G rs756617534
NM_198129.4(LAMA3):c.1283G>C (p.Cys428Ser) rs180795245
NM_198129.4(LAMA3):c.1555C>T (p.Arg519Ter) rs757972988
NM_198129.4(LAMA3):c.1611G>A (p.Trp537Ter) rs1555698689
NM_198129.4(LAMA3):c.1741+2T>C rs1555698735
NM_198129.4(LAMA3):c.1742-1G>A rs778808869
NM_198129.4(LAMA3):c.18del (p.Pro7fs) rs1555670401
NM_198129.4(LAMA3):c.1942-2A>C rs1555700119
NM_198129.4(LAMA3):c.2572-2A>G rs1555703785
NM_198129.4(LAMA3):c.2823+1G>A rs1555704210
NM_198129.4(LAMA3):c.2886T>G (p.Tyr962Ter) rs550140177
NM_198129.4(LAMA3):c.3093+1G>A rs1392528129
NM_198129.4(LAMA3):c.3093+1G>C rs1392528129
NM_198129.4(LAMA3):c.3175C>T (p.Arg1059Ter) rs868258726
NM_198129.4(LAMA3):c.3376C>T (p.Arg1126Ter) rs540179310
NM_198129.4(LAMA3):c.3463+1G>A rs1555709710
NM_198129.4(LAMA3):c.3972del (p.Gln1325fs) rs747355586
NM_198129.4(LAMA3):c.4128del (p.Gln1377fs) rs1555712024
NM_198129.4(LAMA3):c.4174del (p.Cys1392fs) rs1555715208
NM_198129.4(LAMA3):c.4422+1G>A rs1016415773
NM_198129.4(LAMA3):c.4768-2A>G rs1555719747
NM_198129.4(LAMA3):c.4855C>T (p.Gln1619Ter) rs1555719813
NM_198129.4(LAMA3):c.4909_4925del (p.Glu1637fs) rs1598965457
NM_198129.4(LAMA3):c.4996C>T (p.Gln1666Ter) rs1317347725
NM_198129.4(LAMA3):c.4998+1402C>T
NM_198129.4(LAMA3):c.4998+1454A>G
NM_198129.4(LAMA3):c.566-1G>A rs776632604
NM_198129.4(LAMA3):c.5830G>A (p.Val1944Met)
NM_198129.4(LAMA3):c.5865T>G (p.Asp1955Glu)
NM_198129.4(LAMA3):c.5942G>A (p.Arg1981Gln)
NM_198129.4(LAMA3):c.6158A>T (p.Asn2053Ile)
NM_198129.4(LAMA3):c.6286A>G (p.Ile2096Val)
NM_198129.4(LAMA3):c.6290C>T (p.Ala2097Val)
NM_198129.4(LAMA3):c.6507G>A (p.Val2169=)
NM_198129.4(LAMA3):c.6574G>A (p.Ala2192Thr)
NM_198129.4(LAMA3):c.7016-7C>T
NM_198129.4(LAMA3):c.7080G>A (p.Leu2360=)
NM_198129.4(LAMA3):c.7181A>G (p.Asn2394Ser)
NM_198129.4(LAMA3):c.7238A>G (p.Tyr2413Cys)
NM_198129.4(LAMA3):c.7267C>G (p.Pro2423Ala)
NM_198129.4(LAMA3):c.734del (p.Phe245fs) rs1555684238
NM_198129.4(LAMA3):c.7546G>A (p.Gly2516Arg)
NM_198129.4(LAMA3):c.7739C>A (p.Thr2580Lys)
NM_198129.4(LAMA3):c.7779-8G>C
NM_198129.4(LAMA3):c.7845A>G (p.Pro2615=)
NM_198129.4(LAMA3):c.7916A>G (p.Glu2639Gly)
NM_198129.4(LAMA3):c.7964T>C (p.Met2655Thr)
NM_198129.4(LAMA3):c.8075G>A (p.Arg2692His)
NM_198129.4(LAMA3):c.8107A>G (p.Ile2703Val)
NM_198129.4(LAMA3):c.8138C>T (p.Thr2713Ile)
NM_198129.4(LAMA3):c.8613T>C (p.Asn2871=)
NM_198129.4(LAMA3):c.8622G>T (p.Arg2874Ser)
NM_198129.4(LAMA3):c.9011A>G (p.Glu3004Gly)
NM_198129.4(LAMA3):c.916G>T (p.Glu306Ter) rs771405735
NM_198129.4(LAMA3):c.938del (p.Pro313fs) rs1555684952
NM_198129.4(LAMA3):c.9400G>C (p.Asp3134His)
NM_198129.4(LAMA3):c.9419C>T (p.Thr3140Ile)
NM_198129.4(LAMA3):c.9475A>G (p.Ile3159Val)
NM_198129.4(LAMA3):c.9647C>T (p.Thr3216Met)
NM_198129.4(LAMA3):c.9695C>A (p.Pro3232Gln)
NM_198129.4(LAMA3):c.9735A>T (p.Ala3245=)
NM_198129.4(LAMA3):c.9944T>C (p.Val3315Ala)

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