List of variants reported as pathogenic for generalized junctional epidermolysis bullosa non-Herlitz type

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Total variants: 48

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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.958_1034dup (p.Asn345fs)	rs1553277702	0.00028
NM_000228.3(LAMB3):c.124C>T (p.Arg42Ter)	rs80356680	0.00006
NM_000228.3(LAMB3):c.1978C>T (p.Arg660Ter)	rs146794392	0.00006
NM_000228.3(LAMB3):c.1705C>T (p.Arg569Ter)	rs201551805	0.00005
NM_000228.3(LAMB3):c.1365_1366del (p.Asn456fs)	rs769967565	0.00004
NM_000228.3(LAMB3):c.2914C>T (p.Arg972Ter)	rs747916314	0.00003
NM_000228.3(LAMB3):c.565-2A>G	rs370148688	0.00003
NM_000228.3(LAMB3):c.1132+5G>A	rs770302956	0.00002
NM_000228.3(LAMB3):c.463dup (p.Ser155fs)	rs776537364	0.00002
NM_000228.3(LAMB3):c.977del (p.His326fs)	rs753711190	0.00002
NM_000228.3(LAMB3):c.285G>A (p.Trp95Ter)	rs1558163550	0.00001
NM_000228.3(LAMB3):c.628+42G>A	rs587776812	0.00001
NM_000228.3(LAMB3):c.628G>A (p.Glu210Lys)	rs121912482	0.00001
NM_000494.4(COL17A1):c.25C>T (p.Arg9Ter)	rs775196743	0.00001
NM_198129.4(LAMA3):c.7654C>T (p.Arg2552Ter)	rs1181742615	0.00001
NM_198129.4(LAMA3):c.8941C>T (p.Gln2981Ter)	rs772038362	0.00001
NM_000228.3(LAMB3):c.1017T>G (p.Tyr339Ter)	rs774174881
NM_000228.3(LAMB3):c.1117C>T (p.Gln373Ter)	rs1057517096
NM_000228.3(LAMB3):c.1133-22G>A	rs767847211
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.1628dup (p.Cys546fs)
NM_000228.3(LAMB3):c.2116del (p.Lys705_Ile706insTer)
NM_000228.3(LAMB3):c.225_226del (p.His75fs)	rs886045870
NM_000228.3(LAMB3):c.241C>T (p.Arg81Ter)	rs1064793896
NM_000228.3(LAMB3):c.2842del (p.Val948fs)	rs772421306
NM_000228.3(LAMB3):c.3190_3191delinsTA (p.Ala1064Ter)
NM_000228.3(LAMB3):c.31dup (p.Leu11fs)	rs777672897
NM_000228.3(LAMB3):c.3228+1G>A	rs778026407
NM_000228.3(LAMB3):c.3247C>T (p.Gln1083Ter)	rs2102403618
NM_000228.3(LAMB3):c.565-3T>C	rs587776813
NM_000228.3(LAMB3):c.596G>C (p.Gly199Ala)	rs121912486
NM_000228.3(LAMB3):c.619A>C (p.Lys207Gln)	rs121912487
NM_000228.3(LAMB3):c.629-1G>A	rs587776814
NM_000228.3(LAMB3):c.76dup (p.Cys26fs)	rs1553281335
NM_000228.3(LAMB3):c.823-1G>A	rs778372285
NM_000228.3(LAMB3):c.904del (p.Trp302fs)	rs786205094
NM_000494.4(COL17A1):c.214C>T (p.Arg72Ter)	rs760094345
NM_000494.4(COL17A1):c.2407G>T (p.Gly803Ter)	rs752317971
NM_000494.4(COL17A1):c.3922del (p.Ser1308fs)	rs1064793760
NM_000494.4(COL17A1):c.4041T>G (p.Tyr1347Ter)	rs945600680
NM_000494.4(COL17A1):c.505C>T (p.Arg169Ter)	rs1564684815
NM_000494.4(COL17A1):c.779del (p.Pro260fs)	rs1589572214
NM_005562.3(LAMC2):c.1043del (p.Ile348fs)	rs2102228301
NM_005562.3(LAMC2):c.1650C>A (p.Cys550Ter)	rs200783718
NM_005562.3(LAMC2):c.3385C>T (p.Arg1129Ter)	rs201307156
NM_005562.3(LAMC2):c.3451C>T (p.Gln1151Ter)	rs2102258267

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