ClinVar Miner

List of variants reported as pathogenic for Junctional epidermolysis bullosa

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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter) rs80356682 0.00049
NM_000228.3(LAMB3):c.727C>T (p.Gln243Ter) rs80356681 0.00005
NM_000228.3(LAMB3):c.2914C>T (p.Arg972Ter) rs747916314 0.00003
NM_000228.3(LAMB3):c.1063T>C (p.Cys355Arg) rs532875477 0.00002
NM_005562.3(LAMC2):c.733C>T (p.Arg245Ter) rs118203901 0.00002
NM_000228.3(LAMB3):c.430C>T (p.Arg144Ter) rs759518184 0.00001
NM_000228.3(LAMB3):c.628G>A (p.Glu210Lys) rs121912482 0.00001
NM_000494.4(COL17A1):c.2596G>A (p.Gly866Arg) rs768705886 0.00001
NM_000494.4(COL17A1):c.3676C>T (p.Arg1226Ter) rs121912769 0.00001
NM_005562.3(LAMC2):c.1045C>T (p.Arg349Ter) rs772306395 0.00001
NM_198129.4(LAMA3):c.7204C>T (p.Arg2402Ter) rs777713989 0.00001
NM_000210.4(ITGA6):c.1286C>A (p.Ser429Ter) rs1686177024
NM_000228.3(LAMB3):c.1336G>T (p.Glu446Ter) rs749069550
NM_000228.3(LAMB3):c.1439_1443del (p.Pro480fs) rs786205095
NM_000228.3(LAMB3):c.1587_1588del (p.Gly530fs) rs769151482
NM_000228.3(LAMB3):c.1634del (p.Gly545fs) rs1666434871
NM_000228.3(LAMB3):c.2047del (p.Glu683fs) rs1666320034
NM_000228.3(LAMB3):c.241C>T (p.Arg81Ter) rs1064793896
NM_000228.3(LAMB3):c.3119G>A (p.Trp1040Ter) rs1057516759
NM_000228.3(LAMB3):c.3228+1G>A rs778026407
NM_000228.3(LAMB3):c.323T>C (p.Leu108Pro) rs1464871076
NM_000228.3(LAMB3):c.429G>A (p.Trp143Ter) rs369555024
NM_000494.4(COL17A1):c.1571_1572dup (p.Gln525fs) rs2086520075
NM_000494.4(COL17A1):c.2228-3_2235delinsTTG rs1554848576
NM_000494.4(COL17A1):c.2576dup (p.Gly860fs) rs2086359795
NM_000494.4(COL17A1):c.3766+1G>A rs2086256572
NM_000494.4(COL17A1):c.3827dup (p.Gly1277fs) rs751058779
NM_000494.4(COL17A1):c.3828_3829insC (p.Gly1277fs) rs2086249404
NM_000494.4(COL17A1):c.4156+1G>A rs373469159
NM_005562.3(LAMC2):c.1782_1783del (p.Lys594fs) rs1553266871
NM_005562.3(LAMC2):c.2015-2A>G rs1659834817
NM_005562.3(LAMC2):c.2074C>T (p.Gln692Ter) rs1659836821
NM_005562.3(LAMC2):c.2489dup (p.Leu830fs) rs774734592
NM_005562.3(LAMC2):c.3343_3344del (p.Val1115fs) rs1660171997
NM_005562.3(LAMC2):c.379G>T (p.Gly127Trp) rs779546941
NM_005562.3(LAMC2):c.404+3_404+6del rs1659229440
NM_198129.4(LAMA3):c.5546del (p.Gly1849fs) rs760487161
NM_198129.4(LAMA3):c.6232_6233del (p.Gln2077_Ser2078insTer) rs1158945258
NM_198129.4(LAMA3):c.6319-1G>T rs2081155250
NM_198129.4(LAMA3):c.6348_6352delinsCTGGCAAGA (p.Glu2117fs) rs2081156116
NM_198129.4(LAMA3):c.8755A>T (p.Lys2919Ter) rs2145417826
NM_198129.4(LAMA3):c.9856G>T (p.Ala3286Ser) rs2082978607

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