ClinVar Miner

List of variants in gene LAMB3 reported as pathogenic for Junctional epidermolysis bullosa gravis of Herlitz

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Total variants: 14
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HGVS dbSNP
NM_000228.2(LAMB3):c.1117C>T (p.Gln373Ter) rs1057517096
NM_000228.2(LAMB3):c.124C>T (p.Arg42Ter) rs80356680
NM_000228.2(LAMB3):c.1587_1588delAG (p.Gly530Metfs) rs769151482
NM_000228.2(LAMB3):c.1830G>A (p.Trp610Ter) rs121912484
NM_000228.2(LAMB3):c.1903C>T (p.Arg635Ter) rs80356682
NM_000228.2(LAMB3):c.1978C>T (p.Arg660Ter) rs146794392
NM_000228.2(LAMB3):c.2806C>T (p.Gln936Ter) rs121912485
NM_000228.2(LAMB3):c.496C>T (p.Gln166Ter) rs121912483
NM_000228.2(LAMB3):c.565-2A>G rs370148688
NM_000228.2(LAMB3):c.727C>T (p.Gln243Ter) rs80356681
NM_000228.2(LAMB3):c.957_958ins77 (p.?)
NM_000228.3(LAMB3):c.29dup (p.Leu11Profs)
NM_000228.3(LAMB3):c.958_1034dup (p.Asn345Lysfs) rs1553277702
NM_001127641.1(LAMB3):c.1343_1344del (p.Ser448Argfs) rs1553277267

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