ClinVar Miner

List of variants in gene LAMA3 reported as likely pathogenic for Junctional epidermolysis bullosa gravis of Herlitz

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Total variants: 70
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HGVS dbSNP
NM_000227.4(LAMA3):c.1009+2T>C rs1057516584
NM_000227.4(LAMA3):c.108del (p.Leu38Phefs) rs1231716161
NM_000227.4(LAMA3):c.1153_1154del (p.Ala385Terfs) rs1057516688
NM_000227.4(LAMA3):c.1439C>G (p.Ser480Ter) rs1555732032
NM_000227.4(LAMA3):c.1491+2T>C rs1057516280
NM_000227.4(LAMA3):c.1550_1553del (p.Val517Glufs) rs1555732431
NM_000227.4(LAMA3):c.1645G>T (p.Glu549Ter) rs1555732528
NM_000227.4(LAMA3):c.1678del (p.Val560Cysfs) rs1057516476
NM_000227.4(LAMA3):c.1740del (p.Glu581Argfs) rs1555732939
NM_000227.4(LAMA3):c.1881_1884delGCTAinsCCT (p.Lys627Asnfs) rs1057517196
NM_000227.4(LAMA3):c.1892-2A>G rs1555734356
NM_000227.4(LAMA3):c.1A>T (p.Met1Leu) rs747547191
NM_000227.4(LAMA3):c.2009-2A>G rs1555734513
NM_000227.4(LAMA3):c.2227A>T (p.Lys743Ter) rs765104557
NM_000227.4(LAMA3):c.222del (p.Cys75Valfs) rs752030611
NM_000227.4(LAMA3):c.2248C>T (p.Gln750Ter) rs1555735252
NM_000227.4(LAMA3):c.2331+1G>A rs1057516279
NM_000227.4(LAMA3):c.2338del (p.Val780Serfs) rs1555736532
NM_000227.4(LAMA3):c.2392del (p.Leu798Trpfs) rs1555736608
NM_000227.4(LAMA3):c.2516_2519del (p.Tyr839Serfs) rs1555737473
NM_000227.4(LAMA3):c.2525del (p.Met842Argfs) rs1555737509
NM_000227.4(LAMA3):c.2634_2654+17del rs1555737629
NM_000227.4(LAMA3):c.2662C>T (p.Gln888Ter) rs1555737779
NM_000227.4(LAMA3):c.285+1G>A rs1057517023
NM_000227.4(LAMA3):c.285+1G>T rs1057517023
NM_000227.4(LAMA3):c.285+2T>G rs1555721815
NM_000227.4(LAMA3):c.2850del (p.Gly951Valfs) rs1057516605
NM_000227.4(LAMA3):c.286-2A>G rs1057516475
NM_000227.4(LAMA3):c.2993del (p.Gly998Alafs) rs1356353167
NM_000227.4(LAMA3):c.2T>C (p.Met1Thr) rs1555720521
NM_000227.4(LAMA3):c.3001C>T (p.Arg1001Ter) rs768415785
NM_000227.4(LAMA3):c.3177_3178del (p.Gly1060Serfs) rs1303193834
NM_000227.4(LAMA3):c.3216+2T>C rs1555740717
NM_000227.4(LAMA3):c.3217-1G>T rs141789403
NM_000227.4(LAMA3):c.3254G>A (p.Trp1085Ter) rs1555740945
NM_000227.4(LAMA3):c.325del (p.Cys109Alafs) rs1057517235
NM_000227.4(LAMA3):c.3275del (p.Asn1092Thrfs) rs1555740963
NM_000227.4(LAMA3):c.3350+2T>G rs786204732
NM_000227.4(LAMA3):c.3376C>T (p.Arg1126Ter) rs774133746
NM_000227.4(LAMA3):c.3465G>A (p.Trp1155Ter) rs1555743454
NM_000227.4(LAMA3):c.3468+2T>C rs1555743457
NM_000227.4(LAMA3):c.3609G>A (p.Trp1203Ter) rs1057516764
NM_000227.4(LAMA3):c.370dup (p.Ala124Glyfs) rs1555724066
NM_000227.4(LAMA3):c.3749+1G>A rs1555744805
NM_000227.4(LAMA3):c.3749+2T>G rs1555744812
NM_000227.4(LAMA3):c.378del (p.Cys127Valfs) rs1057517367
NM_000227.4(LAMA3):c.3799_3800insC (p.Lys1267Thrfs) rs1555745207
NM_000227.4(LAMA3):c.3837_3846dup (p.Phe1283Argfs) rs1555745263
NM_000227.4(LAMA3):c.3881+1G>T rs754558574
NM_000227.4(LAMA3):c.3881+2T>G rs1555745317
NM_000227.4(LAMA3):c.394A>G (p.Ser132Gly) rs1555724108
NM_000227.4(LAMA3):c.3959T>G (p.Leu1320Ter) rs1401574168
NM_000227.4(LAMA3):c.4000del (p.Arg1334Glyfs) rs1555746079
NM_000227.4(LAMA3):c.4064dup (p.Arg1356Lysfs) rs34754160
NM_000227.4(LAMA3):c.4144dup (p.Asp1382Glyfs) rs1057517211
NM_000227.4(LAMA3):c.4287T>G (p.Tyr1429Ter) rs1555751423
NM_000227.4(LAMA3):c.42G>A (p.Trp14Ter) rs900100444
NM_000227.4(LAMA3):c.4349del (p.Ser1450Thrfs) rs1555751482
NM_000227.4(LAMA3):c.4375del (p.Trp1459Glyfs) rs1555751529
NM_000227.4(LAMA3):c.4525-1G>C rs1057517272
NM_000227.4(LAMA3):c.4573del (p.Asp1525Ilefs) rs1555754450
NM_000227.4(LAMA3):c.4685-1G>T rs1555754655
NM_000227.4(LAMA3):c.4748del (p.Thr1583Metfs) rs1057517440
NM_000227.4(LAMA3):c.4909+1G>C rs1234435123
NM_000227.4(LAMA3):c.584-2_584-1delAGinsGA rs1555728297
NM_000227.4(LAMA3):c.634+1G>A rs1555728319
NM_000227.4(LAMA3):c.767_770del (p.Thr256Argfs) rs1555728701
NM_000227.4(LAMA3):c.861dup (p.Asp288Terfs) rs1057517314
NM_000227.4(LAMA3):c.91C>T (p.Gln31Ter) rs1057516512
NM_000227.4(LAMA3):c.955C>T (p.Gln319Ter) rs1555730209

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