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: 66
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HGVS dbSNP
NM_000227.4(LAMA3):c.-109641G>A rs780441868
NM_000227.4(LAMA3):c.-109642A>G rs756617534
NM_000227.4(LAMA3):c.-114543G>T rs1344062987
NM_000227.4(LAMA3):c.-119243del rs1555684952
NM_000227.4(LAMA3):c.-119264G>T rs771405735
NM_000227.4(LAMA3):c.-122080del rs1555684238
NM_000227.4(LAMA3):c.-123618G>A rs776632604
NM_000227.4(LAMA3):c.-1386C>T rs1317347725
NM_000227.4(LAMA3):c.-14215G>A rs1016415773
NM_000227.4(LAMA3):c.-1473_-1457del rs1555719849
NM_000227.4(LAMA3):c.-15164del rs1555715208
NM_000227.4(LAMA3):c.-1527C>T rs1555719813
NM_000227.4(LAMA3):c.-1616A>G rs1555719747
NM_000227.4(LAMA3):c.-183344del rs1555670401
NM_000227.4(LAMA3):c.-25387del rs1555712024
NM_000227.4(LAMA3):c.-25544del rs747355586
NM_000227.4(LAMA3):c.-30523G>A rs1555709710
NM_000227.4(LAMA3):c.-30611C>T rs540179310
NM_000227.4(LAMA3):c.-34183C>T rs868258726
NM_000227.4(LAMA3):c.-35955G>A rs1392528129
NM_000227.4(LAMA3):c.-35955G>C rs1392528129
NM_000227.4(LAMA3):c.-39155T>G rs550140177
NM_000227.4(LAMA3):c.-45577G>A rs1555704210
NM_000227.4(LAMA3):c.-46345A>G rs1555703785
NM_000227.4(LAMA3):c.-57579A>C rs1555700119
NM_000227.4(LAMA3):c.-59989G>A rs778808869
NM_000227.4(LAMA3):c.-62540T>C rs1555698735
NM_000227.4(LAMA3):c.-62672G>A rs1555698689
NM_000227.4(LAMA3):c.-88936C>T rs757972988
NM_000227.4(LAMA3):c.1705_1707del (p.Ala569del) rs1555732875
NM_000227.4(LAMA3):c.1789-13G>T rs886053672
NM_000227.4(LAMA3):c.245_246insGGG (p.Gly82_His83insGly) rs1555721786
NM_000227.4(LAMA3):c.2632A>T (p.Met878Leu) rs1085308017
NM_000227.4(LAMA3):c.4024C>T (p.Arg1342Cys) rs61752346
NM_000227.4(LAMA3):c.4414C>T (p.Arg1472Cys) rs35762515
NM_000227.4(LAMA3):c.4469_4471del (p.Thr1490del) rs1555752733
NM_000227.4(LAMA3):c.4685-11T>C rs776372744
NM_000227.4(LAMA3):c.4770_4772dup (p.Gly1590_Ser1591insArg) rs750402445
NM_000227.4(LAMA3):c.5021del (p.Gly1674Valfs) rs1555756067
NM_000227.4(LAMA3):c.5153del (p.Leu1718Argfs) rs1555756775
NM_000227.4(LAMA3):c.5173T>A (p.Ter1725Lys) rs1555756804
NM_000227.4(LAMA3):c.773_774ins21 (p.?) rs1555728685
NM_198129.2(LAMA3):c.1283G>C (p.Cys428Ser)
NM_198129.2(LAMA3):c.1941+1del rs1555700047
NM_198129.2(LAMA3):c.2147+1G>A rs1555700517
NM_198129.2(LAMA3):c.2204_2210del (p.Asp735Alafs) rs1555701549
NM_198129.2(LAMA3):c.2305-2A>G rs1555702265
NM_198129.2(LAMA3):c.2428+1G>A rs375558120
NM_198129.2(LAMA3):c.2571+2dup rs1203300407
NM_198129.2(LAMA3):c.2868C>A (p.Tyr956Ter) rs755080322
NM_198129.2(LAMA3):c.3140_3141del (p.Val1047Glufs) rs1555708032
NM_198129.2(LAMA3):c.3336+1G>A rs1555708549
NM_198129.2(LAMA3):c.3381C>A (p.Tyr1127Ter) rs767385840
NM_198129.2(LAMA3):c.3719+3_3719+6del rs1436285030
NM_198129.2(LAMA3):c.3936C>A (p.Cys1312Ter) rs374897016
NM_198129.2(LAMA3):c.394del (p.Leu132Cysfs) rs887748208
NM_198129.2(LAMA3):c.4201G>T (p.Glu1401Ter) rs752265207
NM_198129.2(LAMA3):c.4501del (p.Ser1501Valfs) rs1555716726
NM_198129.2(LAMA3):c.4519C>T (p.Gln1507Ter) rs534665666
NM_198129.2(LAMA3):c.4538_4560del (p.Ile1513Thrfs) rs1555716754
NM_198129.2(LAMA3):c.4558G>T (p.Ala1520Ser)
NM_198129.2(LAMA3):c.4750C>T (p.Arg1584Ter) rs552326056
NM_198129.2(LAMA3):c.4813_4815del (p.Glu1605del) rs1555719776
NM_198129.2(LAMA3):c.4974del (p.Ala1659Profs) rs767394785
NM_198129.2(LAMA3):c.584T>G (p.Leu195Ter) rs1555683785
NM_198129.2(LAMA3):c.856-2A>G rs757101344

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